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2024-04-16 18:36:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_003242 4629 bp mRNA linear PRI 11-JUN-2013
DEFINITION Homo sapiens transforming growth factor, beta receptor II
(70/80kDa) (TGFBR2), transcript variant 2, mRNA.
ACCESSION NM_003242
VERSION NM_003242.5 GI:133908633
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 4629)
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 4629)
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 4629)
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 4629)
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 4629)
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 4629)
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 4629)
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 4629)
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 4629)
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 4629)
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 BC040499.1, M85079.1 and
AC096921.2.
This sequence is a reference standard in the RefSeqGene project.
On Mar 21, 2007 this sequence version replaced gi:67782323.
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 (2) lacks an alternate in-frame
exon in the coding region compared to variant 1. The resulting
protein (isoform B) is shorter than 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 :: BC040499.1, M85079.1 [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
1-1384 BC040499.1 2-1385
1385-1697 M85079.1 1338-1650
1698-2127 BC040499.1 1699-2128
2128-4629 AC096921.2 166262-168763
FEATURES Location/Qualifiers
source 1..4629
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="3"
/map="3p22"
gene 1..4629
/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="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..2086
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/EC_number="2.7.11.30"
/note="isoform B precursor is encoded by transcript
variant 2; 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 B precursor"
/protein_id="NP_003233.4"
/db_xref="GI:67782324"
/db_xref="CCDS:CCDS2648.1"
/db_xref="GeneID:7048"
/db_xref="HGNC:11773"
/db_xref="MIM:190182"
/translation="
MGRGLLRGLWPLHIVLWTRIASTIPPHVQKSVNNDMIVTDNNGAVKFPQLCKFCDVRFSTCDNQKSCMSNCSITSICEKPQEVCVAVWRKNDENITLETVCHDPKLPYHDFILEDAASPKCIMKEKKKPGETFFMCSCSSDECNDNIIFSEEYNTSNPDLLLVIFQVTGISLLPPLGVAISVIIIFYCYRVNRQQKLSSTWETGKTRKLMEFSEHCAIILEDDRSDISSTCANNINHNTELLPIELDTLVGKGRFAEVYKAKLKQNTSEQFETVAVKIFPYEEYASWKTEKDIFSDINLKHENILQFLTAEERKTELGKQYWLITAFHAKGNLQEYLTRHVISWEDLRKLGSSLARGIAHLHSDHTPCGRPKMPIVHRDLKSSNILVKNDLTCCLCDFGLSLRLDPTLSVDDLANSGQVGTARYMAPEVLESRMNLENVESFKQTDVYSMALVLWEMTSRCNAVGEVKDYEPPFGSKVREHPCVESMKDNVLRDRGRPEIPSFWLNHQGIQMVCETLTECWDHDPEARLTAQCVAERFSELEHLDRLSGRSCSEEKIPEDGSLNTTK
"
sig_peptide 383..448
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
mat_peptide 449..2083
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/product="TGF-beta receptor type-2 isoform B"
misc_feature 524..835
/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 881..943
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (P37173.2);
transmembrane region"
misc_feature 1019..1021
/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 1055..1057
/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 1064..1066
/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 1067..1069
/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 1112..1984
/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 1130..1753
/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(1130..1144,1154..1156,1205..1207,1211..1213,
1295..1297,1355..1366,1376..1378,1382..1384,1517..1519,
1523..1525,1529..1534,1538..1540,1571..1573,1580..1582,
1640..1651)
/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(1130..1144,1154..1156,1205..1207,1211..1213,
1295..1297,1355..1366,1376..1378,1517..1519,1523..1525,
1529..1534,1538..1540,1571..1573)
/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(1142..1144,1376..1378,1382..1384,1517..1519,
1523..1525,1529..1531,1580..1582,1640..1651)
/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 1157..1159
/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 1388..1390
/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(1568..1588,1640..1651)
/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 1607..1609
/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 1628..1630
/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 1652..1654
/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 2024..2026
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/experiment="experimental evidence, no additional details
recorded"
/note="Phosphoserine; propagated from UniProtKB/Swiss-Prot
(P37173.2); phosphorylation site"
misc_feature 2024..2026
/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 2033..2035
/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 2039..2041
/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..954
/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..645
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 488
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17025864"
variation 498
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:146277116"
variation 548
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200924849"
variation 604
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112864356"
exon 646..836
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 673
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374201843"
variation 684
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:144137785"
variation 688
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:370201557"
variation 692
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922665"
variation 765
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="a"
/db_xref="dbSNP:79375991"
variation 776
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:146497045"
variation 785
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377455599"
exon 837..1636
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 926
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:376358046"
variation 937
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201685723"
variation 938
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:368346624"
variation 949
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:371221124"
variation 952
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:143775631"
variation 953
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:56105708"
variation 959
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:61762550"
variation 1002
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:371209879"
variation 1021
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200332401"
variation 1031
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:149141477"
variation 1053
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112465572"
variation 1060
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147111149"
variation 1061
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:202056618"
variation 1071
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:150116445"
variation 1072
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:201560560"
variation 1090
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141554621"
variation 1154
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:184297150"
variation 1185
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139078984"
variation 1209
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:200679764"
variation 1233
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:374708133"
variation 1297
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146030104"
variation 1305
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:28934568"
variation 1308
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:202168735"
variation 1319
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:55751315"
variation 1320
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200361387"
variation 1326
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:34833812"
variation 1329
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:3209742"
variation 1366
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922666"
variation 1367
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:148665451"
variation 1368
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376752333"
variation 1381
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2229102"
variation 1385
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:17854016"
variation 1388
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:104893812"
variation 1424
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:144701411"
variation 1425
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369450067"
variation 1444
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113194608"
variation 1445
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:104893813"
variation 1448
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:199660234"
variation 1451
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:104893814"
variation 1452
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:370995723"
variation 1460
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:189119533"
variation 1474
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149195553"
variation 1483
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375165766"
variation 1501
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:35719192"
variation 1533
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193922660"
variation 1534
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:193922661"
variation 1535
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:137908708"
variation 1536
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111319732"
variation 1541
/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 1545
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193922662"
variation 1549
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228048"
variation 1567
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:193922663"
variation 1588
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:187049329"
variation 1590
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:143095746"
variation 1621
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:369151798"
exon 1637..1778
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 1648
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2228047"
variation 1655
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893817"
variation 1662
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893818"
variation 1698
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050833"
variation 1728
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893807"
variation 1760
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893811"
variation 1761
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893816"
variation 1771
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201484143"
variation 1775
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:144766594"
exon 1779..1906
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 1834
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:185502982"
variation 1840
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:139881155"
variation 1852
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141113059"
variation 1865
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893819"
variation 1872
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:200958264"
variation 1906
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:121918715"
exon 1907..4629
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/inference="alignment:Splign:1.39.8"
variation 1922
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:193922664"
variation 1928
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:370708687"
variation 1929
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:149847376"
variation 1930
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140662877"
variation 1958
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:121918714"
variation 1964
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893810"
variation 1965
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:104893815"
variation 1967
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:201601508"
variation 1984
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140818646"
variation 1991
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:104893809"
variation 2002
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:369806947"
variation 2008
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375226321"
variation 2039
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:112215250"
variation 2054
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:200642740"
variation 2062
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376815143"
variation 2074
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:201476040"
variation 2106
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:374127951"
variation 2118
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:369578953"
variation 2161
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376307349"
variation 2191
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149112005"
variation 2235
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:143024112"
variation 2299
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="gt"
/db_xref="dbSNP:17032212"
variation 2301..2302
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="gt"
/db_xref="dbSNP:201873824"
variation 2336
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:113220101"
variation 2351
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:17026326"
variation 2394..2395
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="tt"
/db_xref="dbSNP:199931498"
variation 2397..2398
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="ta"
/db_xref="dbSNP:35934901"
variation 2414..2415
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="at"
/db_xref="dbSNP:4016180"
variation 2416
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:304840"
variation 2529
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:188599299"
variation 2651
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:193049270"
variation 2685
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:79755385"
variation 2828
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17026328"
variation 2833
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:11466531"
variation 2921
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:17026332"
variation 2934
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:17026336"
variation 2944
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:142745018"
variation 2967
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111802426"
variation 3074
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:138036906"
variation 3093
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:141927808"
variation 3236
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185269441"
variation 3275
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="a"
/db_xref="dbSNP:34773126"
variation 3314
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:373324838"
STS 3363..3515
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="RH47188"
/db_xref="UniSTS:66157"
STS 3363..3462
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="SHGC-32684"
/db_xref="UniSTS:66156"
variation 3403
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:376278596"
variation 3440
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11466532"
variation 3502
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="g"
/db_xref="dbSNP:150669594"
variation 3593
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:139938413"
variation 3607
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466533"
variation 3648
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:190586104"
variation 3654
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:182312262"
variation 3768
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17026341"
variation 3775
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1050836"
variation 3795
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:149862574"
variation 3832
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:185309141"
variation 3873
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372437429"
variation 3895
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:6550008"
variation 3901
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:146296952"
variation 3919
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803446"
variation 3966
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:11466534"
variation 3972
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="g"
/replace="t"
/db_xref="dbSNP:11466535"
variation 3984
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="g"
/db_xref="dbSNP:17026348"
variation 4073
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:188109487"
variation 4151
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="c"
/replace="t"
/db_xref="dbSNP:11466536"
variation 4171
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace="a"
/replace="t"
/db_xref="dbSNP:11466537"
variation 4325..4326
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="t"
/db_xref="dbSNP:34914516"
variation 4326..4327
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/replace=""
/replace="a"
/db_xref="dbSNP:71093922"
variation 4335..4336
/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 4393..4514
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="A006H18"
/db_xref="UniSTS:16484"
STS 4393..4514
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
/standard_name="G32353"
/db_xref="UniSTS:116944"
variation 4402
/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 4550..4555
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
variation 4569
/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 4571..4576
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
polyA_site 4582
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
polyA_site 4596
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
polyA_site 4629
/gene="TGFBR2"
/gene_synonym="AAT3; FAA3; LDS1B; LDS2B; MFS2; RIIC;
TAAD2; TGFbeta-RII; TGFR-2"
ORIGIN
ggagagggagaaggctctcgggcggagagaggtcctgcccagctgttggcgaggagtttcctgtttcccccgcagcgctgagttgaagttgagtgagtcactcgcgcgcacggagcgacgacacccccgcgcgtgcacccgctcgggacaggagccggactcctgtgcagcttccctcggccgccgggggcctccccgcgcctcgccggcctccaggccccctcctggctggcgagcgggcgccacatctggcccgcacatctgcgctgccggcccggcgcggggtccggagagggcgcggcgcggaggcgcagccaggggtccgggaaggcgccgtccgctgcgctgggggctcggtctatgacgagcagcggggtctgccatgggtcgggggctgctcaggggcctgtggccgctgcacatcgtcctgtggacgcgtatcgccagcacgatcccaccgcacgttcagaagtcggttaataacgacatgatagtcactgacaacaacggtgcagtcaagtttccacaactgtgtaaattttgtgatgtgagattttccacctgtgacaaccagaaatcctgcatgagcaactgcagcatcacctccatctgtgagaagccacaggaagtctgtgtggctgtatggagaaagaatgacgagaacataacactagagacagtttgccatgaccccaagctcccctaccatgactttattctggaagatgctgcttctccaaagtgcattatgaaggaaaaaaaaaagcctggtgagactttcttcatgtgttcctgtagctctgatgagtgcaatgacaacatcatcttctcagaagaatataacaccagcaatcctgacttgttgctagtcatatttcaagtgacaggcatcagcctcctgccaccactgggagttgccatatctgtcatcatcatcttctactgctaccgcgttaaccggcagcagaagctgagttcaacctgggaaaccggcaagacgcggaagctcatggagttcagcgagcactgtgccatcatcctggaagatgaccgctctgacatcagctccacgtgtgccaacaacatcaaccacaacacagagctgctgcccattgagctggacaccctggtggggaaaggtcgctttgctgaggtctataaggccaagctgaagcagaacacttcagagcagtttgagacagtggcagtcaagatctttccctatgaggagtatgcctcttggaagacagagaaggacatcttctcagacatcaatctgaagcatgagaacatactccagttcctgacggctgaggagcggaagacggagttggggaaacaatactggctgatcaccgccttccacgccaagggcaacctacaggagtacctgacgcggcatgtcatcagctgggaggacctgcgcaagctgggcagctccctcgcccgggggattgctcacctccacagtgatcacactccatgtgggaggcccaagatgcccatcgtgcacagggacctcaagagctccaatatcctcgtgaagaacgacctaacctgctgcctgtgtgactttgggctttccctgcgtctggaccctactctgtctgtggatgacctggctaacagtgggcaggtgggaactgcaagatacatggctccagaagtcctagaatccaggatgaatttggagaatgttgagtccttcaagcagaccgatgtctactccatggctctggtgctctgggaaatgacatctcgctgtaatgcagtgggagaagtaaaagattatgagcctccatttggttccaaggtgcgggagcacccctgtgtcgaaagcatgaaggacaacgtgttgagagatcgagggcgaccagaaattcccagcttctggctcaaccaccagggcatccagatggtgtgtgagacgttgactgagtgctgggaccacgacccagaggcccgtctcacagcccagtgtgtggcagaacgcttcagtgagctggagcatctggacaggctctcggggaggagctgctcggaggagaagattcctgaagacggctccctaaacactaccaaatagctcttctggggcaggctgggccatgtccaaagaggctgcccctctcaccaaagaacagaggcagcaggaagctgcccctgaactgatgcttcctggaaaaccaagggggtcactcccctccctgtaagctgtggggataagcagaaacaacagcagcagggagtgggtgacatagagcattctatgcctttgacattgtcataggataagctgtgttagcacttcctcaggaaatgagattgatttttacaatagccaataacatttgcactttattaatgcctgtatataaatatgaatagctatgttttatatatatatatatatatctatatatgtctatagctctatatatatagccataccttgaaaagagacaaggaaaaacatcaaatattcccaggaaattggttttattggagaactccagaaccaagcagagaaggaagggacccatgacagcattagcatttgacaatcacacatgcagtggttctctgactgtaaaacagtgaactttgcatgaggaaagaggctccatgtctcacagccagctatgaccacattgcacttgcttttgcaaaataatcattccctgcctagcacttctcttctggccatggaactaagtacagtggcactgtttgaggaccagtgttcccggggttcctgtgtgcccttatttctcctggacttttcatttaagctccaagccccaaatctggggggctagtttagaaactctccctcaacctagtttagaaactctaccccatctttaataccttgaatgttttgaaccccactttttaccttcatgggttgcagaaaaatcagaacagatgtccccatccatgcgattgccccaccatctactaatgaaaaattgttctttttttcatctttcccctgcacttatgttactattctctgctcccagccttcatccttttctaaaaaggagcaaattctcactctaggctttatcgtgtttactttttcattacacttgacttgattttctagttttctatacaaacaccaatgggttccatctttctgggctcctgattgctcaagcacagtttggcctgatgaagaggatttcaactacacaatactatcattgtcaggactatgacctcaggcactctaaacatatgttttgtttggtcagcacagcgtttcaaaaagtgaagccactttataaatatttggagattttgcaggaaaatctggatccccaggtaaggatagcagatggttttcagttatctccagtccacgttcacaaaatgtgaaggtgtggagacacttacaaagctgcctcacttctcactgtaaacattagctctttccactgcctacctggaccccagtctaggaattaaatctgcacctaaccaaggtcccttgtaagaaatgtccattcaagcagtcattctctgggtatataatatgattttgactaccttatctggtgttaagatttgaagttggccttttattggactaaaggggaactcctttaagggtctcagttagcccaagtttcttttgcttatatgttaatagttttaccctctgcattggagagaggagtgctttactccaagaagctttcctcatggttaccgttctctccatcatgccagccttctcaacctttgcagaaattactagagaggatttgaatgtgggacacaaaggtcccatttgcagttagaaaatttgtgtccacaaggacaagaacaaagtatgagctttaaaactccataggaaacttgttaatcaacaaagaagtgttaatgctgcaagtaatctcttttttaaaactttttgaagctacttattttcagccaaataggaatattagagagggactggtagtgagaatatcagctctgtttggatggtggaaggtctcattttattgagatttttaagatacatgcaaaggtttggaaatagaacctctaggcaccctcctcagtgtgggtgggctgagagttaaagacagtgtggctgcagtagcatagaggcgcctagaaattccacttgcaccgtagggcatgctgataccatcccaatagctgttgcccattgacctctagtggtgagtttctagaatactggtccattcatgagatattcaagattcaagagtattctcacttctgggttatcagcataaactggaatgtagtgtcagaggatactgtggcttgttttgtttatgtttttttttcttattcaagaaaaaagaccaaggaataacattctgtagttcctaaaaatactgacttttttcactactatacataaagggaaagttttattcttttatggaacacttcagctgtactcatgtattaaaataggaatgtgaatgctatatactctttttatatcaaaagtctcaagcacttatttttattctatgcattgtttgtcttttacataaataaaatgtttattagattgaataaagcaaaatactcaggtgagcatcctgcctcctgttcccattcctagtagctaaa
//
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_003233 -> EC 2.7.11.30
by
@meso_cacase at
DBCLS
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