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2024-04-27 01:47:44, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001024847 4704 bp mRNA linear PRI 11-JUN-2013
DEFINITION Homo sapiens transforming growth factor, beta receptor II
(70/80kDa) (TGFBR2), transcript variant 1, mRNA.
ACCESSION NM_001024847
VERSION NM_001024847.2 GI:133908632
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 4704)
AUTHORS Sylvan,J., Greenberg,R.K., Mastracci,T.M., Eagleton,M.J. and
Moran,R.
TITLE Treatment of a patient with vertebral and subclavian aneurysms in
the setting of a TGFBR2 mutation
JOURNAL J. Vasc. Surg. 57 (4), 1116-1119 (2013)
PUBMED 23312833
REMARK GeneRIF: Case Report: treatment of aneurysms of the subclavian and
vertebral arteries in Ehlers-Danlos syndrome with TGFBR2 mutation.
REFERENCE 2 (bases 1 to 4704)
AUTHORS Liu,C., Billadeau,D.D., Abdelhakim,H., Leof,E., Kaibuchi,K.,
Bernabeu,C., Bloom,G.S., Yang,L., Boardman,L., Shah,V.H. and
Kang,N.
TITLE IQGAP1 suppresses TbetaRII-mediated myofibroblastic activation and
metastatic growth in liver
JOURNAL J. Clin. Invest. 123 (3), 1138-1156 (2013)
PUBMED 23454766
REMARK GeneRIF: IQGAP1 in the tumor microenvironment suppresses TGFBR2 and
TGF-beta dependent myofibroblastic differentiation to constrain
tumor growth.
REFERENCE 3 (bases 1 to 4704)
AUTHORS Zuo,W., Huang,F., Chiang,Y.J., Li,M., Du,J., Ding,Y., Zhang,T.,
Lee,H.W., Jeong,L.S., Chen,Y., Deng,H., Feng,X.H., Luo,S., Gao,C.
and Chen,Y.G.
TITLE c-Cbl-mediated neddylation antagonizes ubiquitination and
degradation of the TGF-beta type II receptor
JOURNAL Mol. Cell 49 (3), 499-510 (2013)
PUBMED 23290524
REMARK GeneRIF: c-Cbl conjugates neural precursor cell-expressed,
developmentally downregulated 8 (NEDD8), a ubiquitin-like protein,
to TbetaRII at Lys556 and Lys567.
REFERENCE 4 (bases 1 to 4704)
AUTHORS Huang,S., Holzel,M., Knijnenburg,T., Schlicker,A., Roepman,P.,
McDermott,U., Garnett,M., Grernrum,W., Sun,C., Prahallad,A.,
Groenendijk,F.H., Mittempergher,L., Nijkamp,W., Neefjes,J.,
Salazar,R., Ten Dijke,P., Uramoto,H., Tanaka,F.,
Beijersbergen,R.L., Wessels,L.F. and Bernards,R.
TITLE MED12 controls the response to multiple cancer drugs through
regulation of TGF-beta receptor signaling
JOURNAL Cell 151 (5), 937-950 (2012)
PUBMED 23178117
REMARK GeneRIF: MED12 is in part cytoplasmic where it negatively regulates
TGF-betaR2 through physical interaction. MED12 suppression
therefore results in activation of TGF-betaR signaling, which is
both necessary and sufficient for drug resistance.
REFERENCE 5 (bases 1 to 4704)
AUTHORS Paiva,C.E., Serrano,S.V., Paiva,B.S., Scapulatempo-Neto,C.,
Soares,F.A., Rogatto,S.R. and Marques,M.E.
TITLE Absence of TGF-betaRII predicts bone and lung metastasis and is
associated with poor prognosis in stage III breast tumors
JOURNAL Cancer Biomark 11 (5), 209-217 (2012)
PUBMED 23220853
REMARK GeneRIF: an association between TGF-betaRII-negative tumor and
higher risk of metastasis to lungs and bones was verified.
REFERENCE 6 (bases 1 to 4704)
AUTHORS Wrana,J.L., Attisano,L., Carcamo,J., Zentella,A., Doody,J.,
Laiho,M., Wang,X.F. and Massague,J.
TITLE TGF beta signals through a heteromeric protein kinase receptor
complex
JOURNAL Cell 71 (6), 1003-1014 (1992)
PUBMED 1333888
REFERENCE 7 (bases 1 to 4704)
AUTHORS Cheifetz,S., Bellon,T., Cales,C., Vera,S., Bernabeu,C., Massague,J.
and Letarte,M.
TITLE Endoglin is a component of the transforming growth factor-beta
receptor system in human endothelial cells
JOURNAL J. Biol. Chem. 267 (27), 19027-19030 (1992)
PUBMED 1326540
REFERENCE 8 (bases 1 to 4704)
AUTHORS .
TITLE Expression cloning of the TGF-beta type II receptor, a functional
transmembrane serine/threonine kinase
JOURNAL Cell 70 (6), 1069 (1992)
PUBMED 1525823
REMARK Correction to:[Cell. 1992 Feb 21;68(4):775-85. PMID: 1310899]
REFERENCE 9 (bases 1 to 4704)
AUTHORS Massague,J.
TITLE Receptors for the TGF-beta family
JOURNAL Cell 69 (7), 1067-1070 (1992)
PUBMED 1319842
REMARK Review article
REFERENCE 10 (bases 1 to 4704)
AUTHORS Lin,H.Y., Wang,X.F., Ng-Eaton,E., Weinberg,R.A. and Lodish,H.F.
TITLE Expression cloning of the TGF-beta type II receptor, a functional
transmembrane serine/threonine kinase
JOURNAL Cell 68 (4), 775-785 (1992)
PUBMED 1310899
REMARK Erratum:[Cell. 1992 Sep 18;70(6):1069. PMID: 1525823]
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DB493906.1, D28131.1,
AC096921.2 and BC040499.1.
On Mar 21, 2007 this sequence version replaced gi:67782325.
Summary: This gene encodes a member of the Ser/Thr protein kinase
family and the TGFB receptor subfamily. The encoded protein is a
transmembrane protein that has a protein kinase domain, forms a
heterodimeric complex with another receptor protein, and binds
TGF-beta. This receptor/ligand complex phosphorylates proteins,
which then enter the nucleus and regulate the transcription of a
subset of genes related to cell proliferation. Mutations in this
gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic
Aneurysm Syndrome, and the development of various types of tumors.
Alternatively spliced transcript variants encoding different
isoforms have been characterized. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (1) represents the longer
transcript and encodes the longer isoform (A).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AK300383.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025081, ERS025082 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-442 DB493906.1 1-442
443-1292 D28131.1 1-850
1293-1711 AC096921.2 146640-147058
1712-2202 BC040499.1 1638-2128
2203-4704 AC096921.2 166262-168763
FEATURES Location/Qualifiers
source 1..4704
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p22"
gene 1..4704
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="transforming growth factor, beta receptor II
(70/80kDa)"
/db_xref="GeneID:7048"
/db_xref="HGNC:11773"
/db_xref="HPRD:01823"
/db_xref="MIM:190182"
exon 1..476
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 81
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:138010137"
variation 238
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:374663229"
variation 255
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2306856"
variation 264
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371046249"
variation 276
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:111606278"
variation 319
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:17025709"
misc_feature 362..364
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="upstream in-frame stop codon"
CDS 383..2161
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/EC_number="2.7.11.30"
/note="isoform A precursor is encoded by transcript
variant 1; TGF-beta type II receptor; TGF-beta receptor
type-2; transforming growth factor beta receptor type IIC;
TGF-beta receptor type IIB; tbetaR-II"
/codon_start=1
/product="TGF-beta receptor type-2 isoform A precursor"
/protein_id="NP_001020018.1"
/db_xref="GI:67782326"
/db_xref="CCDS:CCDS33727.1"
/db_xref="GeneID:7048"
/db_xref="HGNC:11773"
/db_xref="HPRD:01823"
/db_xref="MIM:190182"
/translation="
MGRGLLRGLWPLHIVLWTRIASTIPPHVQKSDVEMEAQKDEIICPSCNRTAHPLRHINNDMIVTDNNGAVKFPQLCKFCDVRFSTCDNQKSCMSNCSITSICEKPQEVCVAVWRKNDENITLETVCHDPKLPYHDFILEDAASPKCIMKEKKKPGETFFMCSCSSDECNDNIIFSEEYNTSNPDLLLVIFQVTGISLLPPLGVAISVIIIFYCYRVNRQQKLSSTWETGKTRKLMEFSEHCAIILEDDRSDISSTCANNINHNTELLPIELDTLVGKGRFAEVYKAKLKQNTSEQFETVAVKIFPYEEYASWKTEKDIFSDINLKHENILQFLTAEERKTELGKQYWLITAFHAKGNLQEYLTRHVISWEDLRKLGSSLARGIAHLHSDHTPCGRPKMPIVHRDLKSSNILVKNDLTCCLCDFGLSLRLDPTLSVDDLANSGQVGTARYMAPEVLESRMNLENVESFKQTDVYSMALVLWEMTSRCNAVGEVKDYEPPFGSKVREHPCVESMKDNVLRDRGRPEIPSFWLNHQGIQMVCETLTECWDHDPEARLTAQCVAERFSELEHLDRLSGRSCSEEKIPEDGSLNTTK
"
sig_peptide 383..448
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
mat_peptide 449..2158
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/product="TGF-beta receptor type-2 isoform A"
misc_feature 599..910
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="Transforming growth factor beta receptor 2
ectodomain; Region: ecTbetaR2; pfam08917"
/db_xref="CDD:149854"
misc_feature 1094..1096
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01823"
misc_feature 1130..1132
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1139..1141
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1142..1144
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1187..2059
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="Protein kinase domain; Region: Pkinase; pfam00069"
/db_xref="CDD:200973"
misc_feature 1205..1828
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="Catalytic domain of Protein Kinases; Region: PKc;
cd00180"
/db_xref="CDD:173623"
misc_feature order(1205..1219,1229..1231,1280..1282,1286..1288,
1370..1372,1430..1441,1451..1453,1457..1459,1592..1594,
1598..1600,1604..1609,1613..1615,1646..1648,1655..1657,
1715..1726)
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="active site"
/db_xref="CDD:173623"
misc_feature order(1205..1219,1229..1231,1280..1282,1286..1288,
1370..1372,1430..1441,1451..1453,1592..1594,1598..1600,
1604..1609,1613..1615,1646..1648)
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="ATP binding site [chemical binding]; other site"
/db_xref="CDD:173623"
misc_feature order(1217..1219,1451..1453,1457..1459,1592..1594,
1598..1600,1604..1606,1655..1657,1715..1726)
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="substrate binding site [chemical binding]; other
site"
/db_xref="CDD:173623"
misc_feature 1232..1234
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 1463..1465
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature order(1643..1663,1715..1726)
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/note="activation loop (A-loop); other site"
/db_xref="CDD:173623"
misc_feature 1682..1684
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01823"
misc_feature 1703..1705
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
/db_xref="HPRD:01823"
misc_feature 1727..1729
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2099..2101
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2108..2110
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
misc_feature 2114..2116
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="phosphorylation site"
STS 429..1029
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="Tgfbr2"
/db_xref="UniSTS:265759"
variation 436
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:139456857"
exon 477..551
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 493
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149757320"
variation 500
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:61732532"
variation 504
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146823197"
variation 511
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143701368"
variation 515
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:113474008"
variation 518
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:200111443"
variation 525
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="a"
/db_xref="dbSNP:58744714"
variation 537
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139308302"
variation 548
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:138262219"
exon 552..720
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 563
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17025864"
variation 573
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:146277116"
variation 623
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200924849"
variation 679
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112864356"
exon 721..911
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 748
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374201843"
variation 759
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144137785"
variation 763
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370201557"
variation 767
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922665"
variation 840
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="a"
/db_xref="dbSNP:79375991"
variation 851
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146497045"
variation 860
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377455599"
exon 912..1711
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 1001
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376358046"
variation 1012
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201685723"
variation 1013
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:368346624"
variation 1024
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371221124"
variation 1027
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143775631"
variation 1028
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:56105708"
variation 1034
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762550"
variation 1077
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371209879"
variation 1096
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200332401"
variation 1106
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:149141477"
variation 1128
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112465572"
variation 1135
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147111149"
variation 1136
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:202056618"
variation 1146
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150116445"
variation 1147
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201560560"
variation 1165
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141554621"
variation 1229
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:184297150"
variation 1260
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139078984"
variation 1284
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200679764"
variation 1308
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374708133"
variation 1372
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146030104"
variation 1380
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:28934568"
variation 1383
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202168735"
variation 1394
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:55751315"
variation 1395
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200361387"
variation 1401
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34833812"
variation 1404
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:3209742"
variation 1441
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922666"
variation 1442
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148665451"
variation 1443
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376752333"
variation 1456
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2229102"
variation 1460
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:17854016"
variation 1463
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:104893812"
variation 1499
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144701411"
variation 1500
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369450067"
variation 1519
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113194608"
variation 1520
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:104893813"
variation 1523
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199660234"
variation 1526
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:104893814"
variation 1527
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370995723"
variation 1535
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:189119533"
variation 1549
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149195553"
variation 1558
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375165766"
variation 1576
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35719192"
variation 1608
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193922660"
variation 1609
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:193922661"
variation 1610
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:137908708"
variation 1611
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111319732"
variation 1616
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:35766612"
variation 1620
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193922662"
variation 1624
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228048"
variation 1642
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:193922663"
variation 1663
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:187049329"
variation 1665
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143095746"
variation 1696
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:369151798"
exon 1712..1853
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 1723
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2228047"
variation 1730
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893817"
variation 1737
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893818"
variation 1773
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050833"
variation 1803
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893807"
variation 1835
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893811"
variation 1836
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893816"
variation 1846
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201484143"
variation 1850
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:144766594"
exon 1854..1981
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 1909
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:185502982"
variation 1915
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139881155"
variation 1927
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141113059"
variation 1940
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893819"
variation 1947
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200958264"
variation 1981
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:121918715"
exon 1982..4704
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 1997
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922664"
variation 2003
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:370708687"
variation 2004
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149847376"
variation 2005
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140662877"
variation 2033
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:121918714"
variation 2039
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893810"
variation 2040
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893815"
variation 2042
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201601508"
variation 2059
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140818646"
variation 2066
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893809"
variation 2077
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:369806947"
variation 2083
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375226321"
variation 2114
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:112215250"
variation 2129
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200642740"
variation 2137
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376815143"
variation 2149
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201476040"
variation 2181
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374127951"
variation 2193
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369578953"
variation 2236
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376307349"
variation 2266
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149112005"
variation 2310
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:143024112"
variation 2374
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="gt"
/db_xref="dbSNP:17032212"
variation 2376..2377
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="gt"
/db_xref="dbSNP:201873824"
variation 2411
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:113220101"
variation 2426
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:17026326"
variation 2469..2470
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="tt"
/db_xref="dbSNP:199931498"
variation 2472..2473
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="ta"
/db_xref="dbSNP:35934901"
variation 2489..2490
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="at"
/db_xref="dbSNP:4016180"
variation 2491
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:304840"
variation 2604
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:188599299"
variation 2726
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193049270"
variation 2760
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:79755385"
variation 2903
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17026328"
variation 2908
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11466531"
variation 2996
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:17026332"
variation 3009
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17026336"
variation 3019
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142745018"
variation 3042
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111802426"
variation 3149
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138036906"
variation 3168
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141927808"
variation 3311
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185269441"
variation 3350
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="a"
/db_xref="dbSNP:34773126"
variation 3389
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373324838"
STS 3438..3590
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="RH47188"
/db_xref="UniSTS:66157"
STS 3438..3537
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="SHGC-32684"
/db_xref="UniSTS:66156"
variation 3478
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376278596"
variation 3515
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11466532"
variation 3577
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:150669594"
variation 3668
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139938413"
variation 3682
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466533"
variation 3723
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:190586104"
variation 3729
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:182312262"
variation 3843
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17026341"
variation 3850
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1050836"
variation 3870
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149862574"
variation 3907
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185309141"
variation 3948
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372437429"
variation 3970
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:6550008"
variation 3976
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146296952"
variation 3994
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803446"
variation 4041
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466534"
variation 4047
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:11466535"
variation 4059
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17026348"
variation 4148
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:188109487"
variation 4226
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11466536"
variation 4246
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:11466537"
variation 4400..4401
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="t"
/db_xref="dbSNP:34914516"
variation 4401..4402
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="a"
/db_xref="dbSNP:71093922"
variation 4410..4411
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="t"
/replace="tt"
/db_xref="dbSNP:66815336"
STS 4468..4589
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="A006H18"
/db_xref="UniSTS:16484"
STS 4468..4589
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="G32353"
/db_xref="UniSTS:116944"
variation 4477
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11556633"
polyA_signal 4625..4630
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
variation 4644
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:79535432"
polyA_signal 4646..4651
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
polyA_site 4657
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
polyA_site 4671
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
polyA_site 4704
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
ORIGIN
ggagagggagaaggctctcgggcggagagaggtcctgcccagctgttggcgaggagtttcctgtttcccccgcagcgctgagttgaagttgagtgagtcactcgcgcgcacggagcgacgacacccccgcgcgtgcacccgctcgggacaggagccggactcctgtgcagcttccctcggccgccgggggcctccccgcgcctcgccggcctccaggccccctcctggctggcgagcgggcgccacatctggcccgcacatctgcgctgccggcccggcgcggggtccggagagggcgcggcgcggaggcgcagccaggggtccgggaaggcgccgtccgctgcgctgggggctcggtctatgacgagcagcggggtctgccatgggtcgggggctgctcaggggcctgtggccgctgcacatcgtcctgtggacgcgtatcgccagcacgatcccaccgcacgttcagaagtcggatgtggaaatggaggcccagaaagatgaaatcatctgccccagctgtaataggactgcccatccactgagacatattaataacgacatgatagtcactgacaacaacggtgcagtcaagtttccacaactgtgtaaattttgtgatgtgagattttccacctgtgacaaccagaaatcctgcatgagcaactgcagcatcacctccatctgtgagaagccacaggaagtctgtgtggctgtatggagaaagaatgacgagaacataacactagagacagtttgccatgaccccaagctcccctaccatgactttattctggaagatgctgcttctccaaagtgcattatgaaggaaaaaaaaaagcctggtgagactttcttcatgtgttcctgtagctctgatgagtgcaatgacaacatcatcttctcagaagaatataacaccagcaatcctgacttgttgctagtcatatttcaagtgacaggcatcagcctcctgccaccactgggagttgccatatctgtcatcatcatcttctactgctaccgcgttaaccggcagcagaagctgagttcaacctgggaaaccggcaagacgcggaagctcatggagttcagcgagcactgtgccatcatcctggaagatgaccgctctgacatcagctccacgtgtgccaacaacatcaaccacaacacagagctgctgcccattgagctggacaccctggtggggaaaggtcgctttgctgaggtctataaggccaagctgaagcagaacacttcagagcagtttgagacagtggcagtcaagatctttccctatgaggagtatgcctcttggaagacagagaaggacatcttctcagacatcaatctgaagcatgagaacatactccagttcctgacggctgaggagcggaagacggagttggggaaacaatactggctgatcaccgccttccacgccaagggcaacctacaggagtacctgacgcggcatgtcatcagctgggaggacctgcgcaagctgggcagctccctcgcccgggggattgctcacctccacagtgatcacactccatgtgggaggcccaagatgcccatcgtgcacagggacctcaagagctccaatatcctcgtgaagaacgacctaacctgctgcctgtgtgactttgggctttccctgcgtctggaccctactctgtctgtggatgacctggctaacagtgggcaggtgggaactgcaagatacatggctccagaagtcctagaatccaggatgaatttggagaatgttgagtccttcaagcagaccgatgtctactccatggctctggtgctctgggaaatgacatctcgctgtaatgcagtgggagaagtaaaagattatgagcctccatttggttccaaggtgcgggagcacccctgtgtcgaaagcatgaaggacaacgtgttgagagatcgagggcgaccagaaattcccagcttctggctcaaccaccagggcatccagatggtgtgtgagacgttgactgagtgctgggaccacgacccagaggcccgtctcacagcccagtgtgtggcagaacgcttcagtgagctggagcatctggacaggctctcggggaggagctgctcggaggagaagattcctgaagacggctccctaaacactaccaaatagctcttctggggcaggctgggccatgtccaaagaggctgcccctctcaccaaagaacagaggcagcaggaagctgcccctgaactgatgcttcctggaaaaccaagggggtcactcccctccctgtaagctgtggggataagcagaaacaacagcagcagggagtgggtgacatagagcattctatgcctttgacattgtcataggataagctgtgttagcacttcctcaggaaatgagattgatttttacaatagccaataacatttgcactttattaatgcctgtatataaatatgaatagctatgttttatatatatatatatatatctatatatgtctatagctctatatatatagccataccttgaaaagagacaaggaaaaacatcaaatattcccaggaaattggttttattggagaactccagaaccaagcagagaaggaagggacccatgacagcattagcatttgacaatcacacatgcagtggttctctgactgtaaaacagtgaactttgcatgaggaaagaggctccatgtctcacagccagctatgaccacattgcacttgcttttgcaaaataatcattccctgcctagcacttctcttctggccatggaactaagtacagtggcactgtttgaggaccagtgttcccggggttcctgtgtgcccttatttctcctggacttttcatttaagctccaagccccaaatctggggggctagtttagaaactctccctcaacctagtttagaaactctaccccatctttaataccttgaatgttttgaaccccactttttaccttcatgggttgcagaaaaatcagaacagatgtccccatccatgcgattgccccaccatctactaatgaaaaattgttctttttttcatctttcccctgcacttatgttactattctctgctcccagccttcatccttttctaaaaaggagcaaattctcactctaggctttatcgtgtttactttttcattacacttgacttgattttctagttttctatacaaacaccaatgggttccatctttctgggctcctgattgctcaagcacagtttggcctgatgaagaggatttcaactacacaatactatcattgtcaggactatgacctcaggcactctaaacatatgttttgtttggtcagcacagcgtttcaaaaagtgaagccactttataaatatttggagattttgcaggaaaatctggatccccaggtaaggatagcagatggttttcagttatctccagtccacgttcacaaaatgtgaaggtgtggagacacttacaaagctgcctcacttctcactgtaaacattagctctttccactgcctacctggaccccagtctaggaattaaatctgcacctaaccaaggtcccttgtaagaaatgtccattcaagcagtcattctctgggtatataatatgattttgactaccttatctggtgttaagatttgaagttggccttttattggactaaaggggaactcctttaagggtctcagttagcccaagtttcttttgcttatatgttaatagttttaccctctgcattggagagaggagtgctttactccaagaagctttcctcatggttaccgttctctccatcatgccagccttctcaacctttgcagaaattactagagaggatttgaatgtgggacacaaaggtcccatttgcagttagaaaatttgtgtccacaaggacaagaacaaagtatgagctttaaaactccataggaaacttgttaatcaacaaagaagtgttaatgctgcaagtaatctcttttttaaaactttttgaagctacttattttcagccaaataggaatattagagagggactggtagtgagaatatcagctctgtttggatggtggaaggtctcattttattgagatttttaagatacatgcaaaggtttggaaatagaacctctaggcaccctcctcagtgtgggtgggctgagagttaaagacagtgtggctgcagtagcatagaggcgcctagaaattccacttgcaccgtagggcatgctgataccatcccaatagctgttgcccattgacctctagtggtgagtttctagaatactggtccattcatgagatattcaagattcaagagtattctcacttctgggttatcagcataaactggaatgtagtgtcagaggatactgtggcttgttttgtttatgtttttttttcttattcaagaaaaaagaccaaggaataacattctgtagttcctaaaaatactgacttttttcactactatacataaagggaaagttttattcttttatggaacacttcagctgtactcatgtattaaaataggaatgtgaatgctatatactctttttatatcaaaagtctcaagcacttatttttattctatgcattgtttgtcttttacataaataaaatgtttattagattgaataaagcaaaatactcaggtgagcatcctgcctcctgttcccattcctagtagctaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:7048 -> Molecular function: GO:0004675 [transmembrane receptor protein serine/threonine kinase activity] evidence: IDA
GeneID:7048 -> Molecular function: GO:0004702 [receptor signaling protein serine/threonine kinase activity] evidence: IEA
GeneID:7048 -> Molecular function: GO:0005024 [transforming growth factor beta-activated receptor activity] evidence: IC
GeneID:7048 -> Molecular function: GO:0005024 [transforming growth factor beta-activated receptor activity] evidence: IDA
GeneID:7048 -> Molecular function: GO:0005024 [transforming growth factor beta-activated receptor activity] evidence: IMP
GeneID:7048 -> Molecular function: GO:0005026 [transforming growth factor beta receptor activity, type II] evidence: IEA
GeneID:7048 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:7048 -> Molecular function: GO:0005524 [ATP binding] evidence: IEA
GeneID:7048 -> Molecular function: GO:0005539 [glycosaminoglycan binding] evidence: IDA
GeneID:7048 -> Molecular function: GO:0031435 [mitogen-activated protein kinase kinase kinase binding] evidence: IEA
GeneID:7048 -> Molecular function: GO:0034713 [type I transforming growth factor beta receptor binding] evidence: IDA
GeneID:7048 -> Molecular function: GO:0034713 [type I transforming growth factor beta receptor binding] evidence: IPI
GeneID:7048 -> Molecular function: GO:0034714 [type III transforming growth factor beta receptor binding] evidence: IDA
GeneID:7048 -> Molecular function: GO:0046332 [SMAD binding] evidence: IDA
GeneID:7048 -> Molecular function: GO:0046872 [metal ion binding] evidence: IEA
GeneID:7048 -> Molecular function: GO:0050431 [transforming growth factor beta binding] evidence: IDA
GeneID:7048 -> Molecular function: GO:0050431 [transforming growth factor beta binding] evidence: IPI
GeneID:7048 -> Biological process: GO:0001568 [blood vessel development] evidence: TAS
GeneID:7048 -> Biological process: GO:0001569 [patterning of blood vessels] evidence: ISS
GeneID:7048 -> Biological process: GO:0001570 [vasculogenesis] evidence: ISS
GeneID:7048 -> Biological process: GO:0001701 [in utero embryonic development] evidence: IEA
GeneID:7048 -> Biological process: GO:0002053 [positive regulation of mesenchymal cell proliferation] evidence: ISS
GeneID:7048 -> Biological process: GO:0002088 [lens development in camera-type eye] evidence: IEA
GeneID:7048 -> Biological process: GO:0002651 [positive regulation of tolerance induction to self antigen] evidence: ISS
GeneID:7048 -> Biological process: GO:0002663 [positive regulation of B cell tolerance induction] evidence: ISS
GeneID:7048 -> Biological process: GO:0002666 [positive regulation of T cell tolerance induction] evidence: ISS
GeneID:7048 -> Biological process: GO:0006468 [protein phosphorylation] evidence: IDA
GeneID:7048 -> Biological process: GO:0006898 [receptor-mediated endocytosis] evidence: IEA
GeneID:7048 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:7048 -> Biological process: GO:0006917 [induction of apoptosis] evidence: IDA
GeneID:7048 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: IC
GeneID:7048 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: IDA
GeneID:7048 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: IMP
GeneID:7048 -> Biological process: GO:0007179 [transforming growth factor beta receptor signaling pathway] evidence: TAS
GeneID:7048 -> Biological process: GO:0007182 [common-partner SMAD protein phosphorylation] evidence: IEA
GeneID:7048 -> Biological process: GO:0007224 [smoothened signaling pathway] evidence: IEA
GeneID:7048 -> Biological process: GO:0007369 [gastrulation] evidence: IEA
GeneID:7048 -> Biological process: GO:0007420 [brain development] evidence: ISS
GeneID:7048 -> Biological process: GO:0007507 [heart development] evidence: ISS
GeneID:7048 -> Biological process: GO:0007566 [embryo implantation] evidence: IEA
GeneID:7048 -> Biological process: GO:0007568 [aging] evidence: IEA
GeneID:7048 -> Biological process: GO:0007584 [response to nutrient] evidence: IEA
GeneID:7048 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: TAS
GeneID:7048 -> Biological process: GO:0009612 [response to mechanical stimulus] evidence: IEA
GeneID:7048 -> Biological process: GO:0009749 [response to glucose stimulus] evidence: IEA
GeneID:7048 -> Biological process: GO:0010634 [positive regulation of epithelial cell migration] evidence: IEA
GeneID:7048 -> Biological process: GO:0018105 [peptidyl-serine phosphorylation] evidence: IDA
GeneID:7048 -> Biological process: GO:0018107 [peptidyl-threonine phosphorylation] evidence: IDA
GeneID:7048 -> Biological process: GO:0030512 [negative regulation of transforming growth factor beta receptor signaling pathway] evidence: TAS
GeneID:7048 -> Biological process: GO:0031100 [organ regeneration] evidence: IEA
GeneID:7048 -> Biological process: GO:0032147 [activation of protein kinase activity] evidence: ISS
GeneID:7048 -> Biological process: GO:0035162 [embryonic hemopoiesis] evidence: ISS
GeneID:7048 -> Biological process: GO:0042060 [wound healing] evidence: IEA
GeneID:7048 -> Biological process: GO:0042127 [regulation of cell proliferation] evidence: ISS
GeneID:7048 -> Biological process: GO:0042493 [response to drug] evidence: IDA
GeneID:7048 -> Biological process: GO:0043011 [myeloid dendritic cell differentiation] evidence: ISS
GeneID:7048 -> Biological process: GO:0043415 [positive regulation of skeletal muscle tissue regeneration] evidence: IEA
GeneID:7048 -> Biological process: GO:0043627 [response to estrogen stimulus] evidence: IEA
GeneID:7048 -> Biological process: GO:0048565 [digestive tract development] evidence: IEA
GeneID:7048 -> Biological process: GO:0048661 [positive regulation of smooth muscle cell proliferation] evidence: IEA
GeneID:7048 -> Biological process: GO:0048701 [embryonic cranial skeleton morphogenesis] evidence: ISS
GeneID:7048 -> Biological process: GO:0051138 [positive regulation of NK T cell differentiation] evidence: ISS
GeneID:7048 -> Biological process: GO:0051216 [cartilage development] evidence: IEA
GeneID:7048 -> Biological process: GO:0060021 [palate development] evidence: ISS
GeneID:7048 -> Biological process: GO:0060044 [negative regulation of cardiac muscle cell proliferation] evidence: IEA
GeneID:7048 -> Biological process: GO:0060389 [pathway-restricted SMAD protein phosphorylation] evidence: IDA
GeneID:7048 -> Biological process: GO:0060434 [bronchus morphogenesis] evidence: IEA
GeneID:7048 -> Biological process: GO:0060440 [trachea formation] evidence: IEA
GeneID:7048 -> Biological process: GO:0060443 [mammary gland morphogenesis] evidence: IEA
GeneID:7048 -> Biological process: GO:0060463 [lung lobe morphogenesis] evidence: IEA
GeneID:7048 -> Biological process: GO:0070723 [response to cholesterol] evidence: IDA
GeneID:7048 -> Biological process: GO:2000379 [positive regulation of reactive oxygen species metabolic process] evidence: IMP
GeneID:7048 -> Cellular component: GO:0005829 [cytosol] evidence: IEA
GeneID:7048 -> Cellular component: GO:0005886 [plasma membrane] evidence: TAS
GeneID:7048 -> Cellular component: GO:0005901 [caveola] evidence: IDA
GeneID:7048 -> Cellular component: GO:0009897 [external side of plasma membrane] evidence: IDA
GeneID:7048 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA
GeneID:7048 -> Cellular component: GO:0043235 [receptor complex] evidence: IDA
GeneID:7048 -> Cellular component: GO:0070022 [transforming growth factor beta receptor homodimeric complex] evidence: IC
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001020018 -> EC 2.7.11.30
by
@meso_cacase at
DBCLS
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