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2024-04-25 15:45:51, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_014209 1490 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens ets variant 2 (ETV2), mRNA.
ACCESSION NM_014209 XM_290831
VERSION NM_014209.2 GI:153791177
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 1490)
AUTHORS Sumanas,S., Gomez,G., Zhao,Y., Park,C., Choi,K. and Lin,S.
TITLE Interplay among Etsrp/ER71, Scl, and Alk8 signaling controls
endothelial and myeloid cell formation
JOURNAL Blood 111 (9), 4500-4510 (2008)
PUBMED 18270322
REMARK GeneRIF: identify human Etv2/ER71 and mouse ER71 proteins as
functional orthologs of Etsrp
REFERENCE 2 (bases 1 to 1490)
AUTHORS Grimwood,J., Gordon,L.A., Olsen,A., Terry,A., Schmutz,J.,
Lamerdin,J., Hellsten,U., Goodstein,D., Couronne,O.,
Tran-Gyamfi,M., Aerts,A., Altherr,M., Ashworth,L., Bajorek,E.,
Black,S., Branscomb,E., Caenepeel,S., Carrano,A., Caoile,C.,
Chan,Y.M., Christensen,M., Cleland,C.A., Copeland,A., Dalin,E.,
Dehal,P., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
Fotopulos,D., Garcia,C., Georgescu,A.M., Glavina,T., Gomez,M.,
Gonzales,E., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Ho,I.,
Huang,W., Israni,S., Jett,J., Kadner,K., Kimball,H., Kobayashi,A.,
Larionov,V., Leem,S.H., Lopez,F., Lou,Y., Lowry,S., Malfatti,S.,
Martinez,D., McCready,P., Medina,C., Morgan,J., Nelson,K.,
Nolan,M., Ovcharenko,I., Pitluck,S., Pollard,M., Popkie,A.P.,
Predki,P., Quan,G., Ramirez,L., Rash,S., Retterer,J., Rodriguez,A.,
Rogers,S., Salamov,A., Salazar,A., She,X., Smith,D., Slezak,T.,
Solovyev,V., Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N.,
Wagner,M., Wheeler,J., Wu,K., Xie,G., Yang,J., Dubchak,I.,
Furey,T.S., DeJong,P., Dickson,M., Gordon,D., Eichler,E.E.,
Pennacchio,L.A., Richardson,P., Stubbs,L., Rokhsar,D.S.,
Myers,R.M., Rubin,E.M. and Lucas,S.M.
TITLE The DNA sequence and biology of human chromosome 19
JOURNAL Nature 428 (6982), 529-535 (2004)
PUBMED 15057824
REFERENCE 3 (bases 1 to 1490)
AUTHORS De Haro,L. and Janknecht,R.
TITLE Functional analysis of the transcription factor ER71 and its
activation of the matrix metalloproteinase-1 promoter
JOURNAL Nucleic Acids Res. 30 (13), 2972-2979 (2002)
PUBMED 12087183
REFERENCE 4 (bases 1 to 1490)
AUTHORS Brown,T.A. and McKnight,S.L.
TITLE Specificities of protein-protein and protein-DNA interaction of
GABP alpha and two newly defined ets-related proteins
JOURNAL Genes Dev. 6 (12B), 2502-2512 (1992)
PUBMED 1340465
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DB046527.1, AK097439.1, AC002115.1 and AA885210.1.
On Jul 25, 2007 this sequence version replaced gi:59933285.
##Evidence-Data-START##
Transcript exon combination :: BC140746.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-275 DB046527.1 1-275
276-412 AK097439.1 264-400
413-577 DB046527.1 413-577
578-706 AK097439.1 650-778
707-707 AC002115.1 65355-65355
708-1452 AK097439.1 780-1524
1453-1490 AA885210.1 1-38 c
FEATURES Location/Qualifiers
source 1..1490
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="19"
/map="19q13.12"
gene 1..1490
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/note="ets variant 2"
/db_xref="GeneID:2116"
/db_xref="HGNC:3491"
/db_xref="MIM:609358"
exon 1..412
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/inference="alignment:Splign:1.39.8"
variation 115
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="c"
/db_xref="dbSNP:114346731"
variation 126
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:187202985"
variation 241
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:191624815"
variation 276
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:58470815"
misc_feature 365..367
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/note="upstream in-frame stop codon"
STS 395..1487
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/db_xref="UniSTS:484646"
exon 413..509
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/inference="alignment:Splign:1.39.8"
CDS 440..1468
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/note="ets variant gene 2; ets-related protein 71"
/codon_start=1
/product="ETS translocation variant 2"
/protein_id="NP_055024.2"
/db_xref="GI:153791178"
/db_xref="CCDS:CCDS32995.2"
/db_xref="GeneID:2116"
/db_xref="HGNC:3491"
/db_xref="MIM:609358"
/translation="
MDLWNWDEASPQEVPPGNKLAGLEGAKLGFCFPDLALQGDTPTATAETCWKGTSSSLASFPQLDWGSALLHPEVPWGAEPDSQALPWSGDWTDMACTAWDSWSGASQTLGPAPLGPGPIPAAGSEGAAGQNCVPVAGEATSWSRAQAAGSNTSWDCSVGPDGDTYWGSGLGGEPRTDCTISWGGPAGPDCTTSWNPGLHAGGTTSLKRYQSSALTVCSEPSPQSDRASLARCPKTNHRGPIQLWQFLLELLHDGARSSCIRWTGNSREFQLCDPKEVARLWGERKRKPGMNYEKLSRGLRYYYRRDIVRKSGGRKYTYRFGGRVPSLAYPDCAGGGRGAETQ
"
misc_feature 1157..1408
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/note="Ets-domain; Region: Ets; pfam00178"
/db_xref="CDD:143944"
variation 492
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="c"
/db_xref="dbSNP:146305038"
exon 510..593
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/inference="alignment:Splign:1.39.8"
variation 521
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="g"
/replace="t"
/db_xref="dbSNP:2285418"
variation 533
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="g"
/replace="t"
/db_xref="dbSNP:143267721"
variation 546
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:147522433"
variation 570
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:190349714"
exon 594..674
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/inference="alignment:Splign:1.39.8"
variation 594
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:371951040"
variation 640
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:147910161"
variation 641
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:376189173"
exon 675..1154
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/inference="alignment:Splign:1.39.8"
variation 707
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:2285419"
variation 713
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:199508358"
variation 723
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:368436234"
variation 728
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:377211244"
variation 802
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:369147603"
variation 820
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="c"
/db_xref="dbSNP:55634102"
variation 844
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:180942338"
variation 880
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:369210600"
variation 881
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:369166558"
variation 919
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:371063485"
variation 953
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="g"
/replace="t"
/db_xref="dbSNP:201715622"
variation 1024
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:148630931"
variation 1048
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:116092459"
variation 1063
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:370329566"
variation 1112
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="g"
/replace="t"
/db_xref="dbSNP:146653402"
variation 1115
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:139416188"
STS 1148..1318
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/standard_name="RH98938"
/db_xref="UniSTS:87739"
variation 1151
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:144143132"
exon 1155..1267
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/inference="alignment:Splign:1.39.8"
variation 1172
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:146495054"
variation 1173..1174
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace=""
/replace="g"
/db_xref="dbSNP:372508925"
variation 1196
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="g"
/db_xref="dbSNP:371833362"
variation 1228
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:140816113"
exon 1268..1487
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/inference="alignment:Splign:1.39.8"
variation 1312
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="t"
/db_xref="dbSNP:199804295"
variation 1330
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:371497382"
variation 1342
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:377271798"
variation 1359
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="g"
/replace="t"
/db_xref="dbSNP:369756635"
variation 1377
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:150132711"
variation 1378
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:145255223"
variation 1394
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="g"
/db_xref="dbSNP:149153832"
variation 1396
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:372471429"
variation 1406
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:149099214"
variation 1410
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="c"
/replace="t"
/db_xref="dbSNP:139031529"
variation 1416
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="g"
/replace="t"
/db_xref="dbSNP:375674337"
variation 1417
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="c"
/db_xref="dbSNP:141901628"
variation 1427
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="a"
/replace="c"
/db_xref="dbSNP:369767060"
variation 1477
/gene="ETV2"
/gene_synonym="ER71; ETSRP71"
/replace="g"
/replace="t"
/db_xref="dbSNP:372947965"
ORIGIN
gcagataagcccagcttagcccagctgaccccagaccctctcccctcactccccccatgtcgcaggatcgagaccctgaggcagacagcccgttcaccaagccccccgccccgcccccatcaccccgtaaacttctcccagcctccgccctgccctcacccagcccgctgttccccaagcctcgctccaagcccacgccacccctgcagcagggcagccccagaggccagcacctatccccgaggctggggtcgaggctcggccccgcccctgcctctgcaacttgagcctggctgcgacccctgctctgacgtctcggaaaattcccccttgcccaggcccttgggggagggggtgcatggtatgaaatggggctgagacccccggctgggggcagaggaacccgccagagaacattcagaaggccttcatcgcatccatggacctgtggaactgggatgaggcatccccacaggaagtgcctccagggaacaagctggcagggcttgaaggagccaaattaggcttctgtttccctgatctggcactccaaggggacacgccgacagcgacagcagagacatgctggaaaggtacaagctcatccctggcaagcttcccacagctggactggggctccgcgttactgcacccagaagttccatggggggcggagcccgactctcaggctcttccgtggtccggggactggacagacatggcgtgcacagcctgggactcttggagcggcgcctcgcagaccctgggccccgcccctctcggcccgggccccatccccgccgccggctccgaaggcgccgcgggccagaactgcgtccccgtggcgggagaggccacctcgtggtcgcgcgcccaggccgccgggagcaacaccagctgggactgttctgtggggcccgacggcgatacctactggggcagtggcctgggcggggagccgcgcacggactgtaccatttcgtggggcgggcccgcgggcccggactgtaccacctcctggaacccggggctgcatgcgggtggcaccacctctttgaagcggtaccagagctcagctctcaccgtttgctccgaaccgagcccgcagtcggaccgtgccagtttggctcgatgccccaaaactaaccaccgaggtcccattcagctgtggcagttcctcctggagctgctccacgacggggcgcgtagcagctgcatccgttggactggcaacagccgcgagttccagctgtgcgaccccaaagaggtggctcggctgtggggcgagcgcaagagaaagccgggcatgaattacgagaagctgagccggggccttcgctactactatcgccgcgacatcgtgcgcaagagcggggggcgaaagtacacgtaccgcttcgggggccgcgtgcccagcctagcctatccggactgtgcgggaggcggacggggagcagagacacaataaaaattcccggtcaaacctcaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2116 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA
GeneID:2116 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA
GeneID:2116 -> Biological process: GO:0001824 [blastocyst development] evidence: IEA
GeneID:2116 -> Biological process: GO:0001890 [placenta development] evidence: IEA
GeneID:2116 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:2116 -> Biological process: GO:0007219 [Notch signaling pathway] evidence: IEA
GeneID:2116 -> Biological process: GO:0016055 [Wnt receptor signaling pathway] evidence: IEA
GeneID:2116 -> Biological process: GO:0030218 [erythrocyte differentiation] evidence: IEA
GeneID:2116 -> Biological process: GO:0045603 [positive regulation of endothelial cell differentiation] evidence: IEA
GeneID:2116 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA
GeneID:2116 -> Biological process: GO:0048514 [blood vessel morphogenesis] evidence: IEA
GeneID:2116 -> Biological process: GO:0060803 [BMP signaling pathway involved in mesodermal cell fate specification] evidence: IEA
GeneID:2116 -> Biological process: GO:2000382 [positive regulation of mesoderm development] evidence: IEA
GeneID:2116 -> Cellular component: GO:0005634 [nucleus] evidence: IEA
by
@meso_cacase at
DBCLS
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