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Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_007252 Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $TBD TBD

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RefSeq Version NM_007252.3, 260436856
Length 2324 bp
Structure linear
Update Date 24-MAR-2013
Organism Homo sapiens (human)
Definition Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.
Product POU domain, class 6, transcription factor 2 isoform 1
Comment

Summary: This gene encodes a member of the POU protein family characterized by the presence of a bipartite DNA binding domain, consisting of a POU-specific domain and a homeodomain, separated by a variable polylinker. The DNA binding domain may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner. The POU family members are transcriptional regulators, many of which are known to control cell type-specific differentiation pathways. This gene is a tumor suppressor involved in Wilms tumor (WT) predisposition. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Oct 2009].


Transcript Variant: This variant (1) is the longer transcript and encodes the longer isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_009183.3
CDS 144..2219
Misc Feature(1)123..125
Misc Feature(2)123..125
Misc Feature(3)1572..1901
Misc Feature(4)1572..1901
Misc Feature(5)1965..2138
Misc Feature(6)order(1965..1979,1983..1985,2034..2036,2052..2054,
Misc Feature(7)order(1971..1973,1980..1982,2100..2102,2109..2114,
Exon (1)1..50
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (2)51..161
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (3)162..333
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (4)334..425
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (5)426..654
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (6)655..1028
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (7)1029..1169
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (8)1170..1376
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (9)1377..1545
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (10)1546..1714
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Exon (11)1715..2324
Gene:POU6F2
Gene Synonym:RPF-1; WT5; WTSL
Translation MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPS KLFGARGNPALSDPGTPDQHQASQTHPPFPVGPQPLLTAQQLASAVAGVMPGGPPALNQP ILIPFNMAGQLGGQQGLVLTLPTANLTNIQGLVAAAAAGGIMTLPLQNLQATSSLNSQLQ QLQLQLQQQQQQQQQQPPPSTNQHPQPAPQAPSQSQQQPLQPTPPQQPPPASQQPPAPTS QLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLVNNP LASQAAAAAAAMSSIASSQAFGNALSSLQGVTGQLVTNAQGQIIGTIPLMPNPGPSSQAA SGTQGLQVQPITPQLLTNAQGQIIATVIGNQILPVINTQGITLSPIKPGQQLHQPSQTSV GQAASQGNLLHLAHSQASMSQSPVRQASSSSSSSSSSSALSVGQLVSNPQTAAGEVDGVN LEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRHTILRSHFFLPQEAQE NTIASSLTAKLNPGLLYPARFEKLDITPKSAQKIKPVLERWMAEAEARHRAGMQNLTEFI GSEPSKKRKRRTSFTPQALEILNAHFEKNTHPSGQEMTEIAEKLNYDREVVRVWFCNKRQ ALKNTIKRLKQHEPATAVPLEPLTDSLEENS
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Position Chain Variation Link
38+dbSNP:
38+a, tdbSNP:191832829
131+a, gdbSNP:199780108
168+dbSNP:
168+a, gdbSNP:144817326
217+a, tdbSNP:199673767
221+c, tdbSNP:145866494
259+a, tdbSNP:148998895
308+c, tdbSNP:192309744
333+a, gdbSNP:199858565
365+dbSNP:
365+a, cdbSNP:199994299
404+c, gdbSNP:143669624
406+a, cdbSNP:201880507
411+c, tdbSNP:148094915
419+g, tdbSNP:141204834
458+dbSNP:
458+c, tdbSNP:145078077
460+c, tdbSNP:138865854
491+c, tdbSNP:142566948
507+a, cdbSNP:150551730
509+c, tdbSNP:138654387
575+a, gdbSNP:143731302
585+a, cdbSNP:144588808
587+c, tdbSNP:139491714
588+a, tdbSNP:143406388
671+dbSNP:
671+c, tdbSNP:147178262
699+c, tdbSNP:140348812
706+a, tdbSNP:201163431
707+c, gdbSNP:201782254
716+g, tdbSNP:121918261
723+a, cdbSNP:183758448
739+a, gdbSNP:2074936
748+a, gdbSNP:151293651
845+g, tdbSNP:80127606
877+c, tdbSNP:150071017
878+g, tdbSNP:145403612
887+c, tdbSNP:141266211
899..900+, cdbSNP:35091229
947+a, gdbSNP:200308619
961+c, tdbSNP:144939808
962+a, gdbSNP:202064223
982+c, tdbSNP:146819544
1003+c, tdbSNP:140579551
1010+a, gdbSNP:143142682
1012+c, tdbSNP:201672868
1064+dbSNP:
1064+a, gdbSNP:148254024
1079+a, gdbSNP:141249466
1133+a, gdbSNP:150386704
1153+c, gdbSNP:200602029
1175+dbSNP:
1175+a, gdbSNP:2302124
1202+c, tdbSNP:2302123
1211+a, gdbSNP:147128853
1233+c, tdbSNP:140425700
1277+c, tdbSNP:149279532
1283+a, gdbSNP:144488464
1292+a, cdbSNP:148571075
1325+c, tdbSNP:201471567
1340+c, tdbSNP:2302122
1348+c, gdbSNP:146637189
1368+a, gdbSNP:140161191
1370+c, gdbSNP:143607091
1376+a, gdbSNP:191138577
1403+dbSNP:
1403+a, gdbSNP:146778737
1426+a, cdbSNP:75367520
1471+c, tdbSNP:202234462
1483+c, gdbSNP:140486504
1505+c, tdbSNP:150437987
1596+dbSNP:
1596+c, gdbSNP:145241880
1641+a, cdbSNP:4992268
1663+a, gdbSNP:200235640
1702+c, tdbSNP:199649027
1764+dbSNP:
1764+a, gdbSNP:201323897
1779+a, tdbSNP:148888580
1811+a, gdbSNP:143525120
1869+c, tdbSNP:201812532
1905+c, tdbSNP:138208739
1931+c, gdbSNP:200692209
1934+c, tdbSNP:143694290
1935+a, gdbSNP:146116211
1975+g, tdbSNP:200415799
2028+a, cdbSNP:145961110
2058+a, gdbSNP:7804851
2086+a, gdbSNP:201519589
2145+c, tdbSNP:150758284
2164+a, cdbSNP:137959267
2169+a, cdbSNP:149617494
2171+g, tdbSNP:146111946
2207+a, gdbSNP:140193353
2261+g, tdbSNP:138603140
2283..2285+, acadbSNP:201268962
Gene SymbolPOU6F2
Gene SynonymRPF-1; WT5; WTSL
Chromosome7
Locus Map7p14.1
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001166018 Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 2, mRNA. On-demand TBD TBD
NM_007252 Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. On-demand TBD TBD
Title A genome-wide scan for common alleles affecting risk for autism .
Author Anney,R., Klei,L., Pinto,D., Regan,R., Conroy,J., Magalhaes,T.R., Correia,C., Abrahams,B.S., Sykes,N., Pagnamenta,A.T., Almeida,J., Bacchelli,E., Bailey,A.J., Baird,G., Battaglia,A., Berney,T., Bolshakova,N., Bolte,S., Bolton,P.F., Bourgeron,T., Brennan,S., Brian,J., Carson,A.R., Casallo,G., Casey,J., Chu,S.H., Cochrane,L., Corsello,C., Crawford,E.L., Crossett,A., Dawson,G., de Jonge,M., Delorme,R., Drmic,I., Duketis,E., Duque,F., Estes,A., Farrar,P., Fernandez,B.A., Folstein,S.E., Fombonne,E., Freitag,C.M., Gilbert,J., Gillberg,C., Glessner,J.T., Goldberg,J., Green,J., Guter,S.J., Hakonarson,H., Heron,E.A., Hill,M., Holt,R., Howe,J.L., Hughes,G., Hus,V., Igliozzi,R., Kim,C., Klauck,S.M., Kolevzon,A., Korvatska,O., Kustanovich,V., Lajonchere,C.M., Lamb,J.A., Laskawiec,M., Leboyer,M., Le Couteur,A., Leventhal,B.L., Lionel,A.C., Liu,X.Q., Lord,C., Lotspeich,L., Lund,S.C., Maestrini,E., Mahoney,W., Mantoulan,C., Marshall,C.R., McConachie,H., McDougle,C.J., McGrath,J., McMahon,W.M., Melhem,N.M., Merikangas,A., Migita,O., Minshew,N.J., Mirza,G.K., Munson,J., Nelson,S.F., Noakes,C., Noor,A., Nygren,G., Oliveira,G., Papanikolaou,K., Parr,J.R., Parrini,B., Paton,T., Pickles,A., Piven,J., Posey,D.J., Poustka,A., Poustka,F., Prasad,A., Ragoussis,J., Renshaw,K., Rickaby,J., Roberts,W., Roeder,K., Roge,B., Rutter,M.L., Bierut,L.J., Rice,J.P., Salt,J., Sansom,K., Sato,D., Segurado,R., Senman,L., Shah,N., Sheffield,V.C., Soorya,L., Sousa,I., Stoppioni,V., Strawbridge,C., Tancredi,R., Tansey,K., Thiruvahindrapduram,B., Thompson,A.P., Thomson,S., Tryfon,A., Tsiantis,J., Van Engeland,H., Vincent,J.B., Volkmar,F., Wallace,S., Wang,K., Wang,Z., Wassink,T.H., Wing,K., Wittemeyer,K., Wood,S., Yaspan,B.L., Zurawiecki,D., Zwaigenbaum,L., Betancur,C., Buxbaum,J.D., Cantor,R.M., Cook,E.H., Coon,H., Cuccaro,M.L., Gallagher,L., Geschwind,D.H., Gill,M., Haines,J.L., Miller,J., Monaco,A.P., Nurnberger,J.I. Jr., Paterson,A.D., Pericak-Vance,M.A., Schellenberg,G.D., Scherer,S.W., Sutcliffe,J.S., Szatmari,P., Vicente,A.M., Vieland,V.J., Wijsman,E.M., Devlin,B., Ennis,S. and Hallmayer,J.
Journal Hum. Mol. Genet. 19 (20), 4072-4082 (2010)
Title Human variation in alcohol response is influenced by variation in neuronal signaling genes .
Author Joslyn,G., Ravindranathan,A., Brush,G., Schuckit,M. and White,R.L.
Journal Alcohol. Clin. Exp. Res. 34 (5), 800-812 (2010)
Title The murine Pou6f2 gene is temporally and spatially regulated during kidney embryogenesis and its human homolog is overexpressed in a subset of Wilms tumors .
Author Di Renzo,F., Doneda,L., Menegola,E., Sardella,M., De Vecchi,G., Collini,P., Spreafico,F., Fossati-Bellani,F., Giavini,E., Radice,P. and Perotti,D.
Journal J. Pediatr. Hematol. Oncol. 28 (12), 791-797 (2006)
Title Wilms tumor in monozygous twins: clinical, pathological, cytogenetic and molecular case report .
Author Perotti,D., Vecchi,G.D., Lualdi,E., Testi,M.A., Sozzi,G., Collini,P., Spreafico,F., Terenziani,M., Fossati-Bellani,F. and Radice,P.
Journal J. Pediatr. Hematol. Oncol. 27 (10), 521-525 (2005)
Title Germline mutations of the POU6F2 gene in Wilms tumors with loss of heterozygosity on chromosome 7p14 .
Author Perotti,D., De Vecchi,G., Testi,M.A., Lualdi,E., Modena,P., Mondini,P., Ravagnani,F., Collini,P., Di Renzo,F., Spreafico,F., Terenziani,M., Sozzi,G., Fossati-Bellani,F. and Radice,P.
Journal Hum. Mutat. 24 (5), 400-407 (2004)
Title Refinement within single yeast artificial chromosome clones of a minimal region commonly deleted on the short arm of chromosome 7 in Wilms tumours .
Author Perotti,D., Testi,M.A., Mondini,P., Pilotti,S., Green,E.D., Pession,A., Sozzi,G., Pierotti,M.A., Fossati-Bellani,F. and Radice,P.
Journal Genes Chromosomes Cancer 31 (1), 42-47 (2001)
Title The virtuoso of versatility: POU proteins that flex to fit .
Author Phillips,K. and Luisi,B.
Journal J. Mol. Biol. 302 (5), 1023-1039 (2000)
Title Retina-derived POU-domain factor-1: a complex POU-domain gene implicated in the development of retinal ganglion and amacrine cells .
Author Zhou,H., Yoshioka,T. and Nathans,J.
Journal J. Neurosci. 16 (7), 2261-2274 (1996)


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