Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.
| RefSeq Version | NM_007252.3, 260436856 |
| Length | 2324 bp |
| Structure | linear |
| Update Date | 13-MAR-2011 |
| 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. 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 | Exon (1) | 1..50 | Exon (2) | 1..50 | Exon (3) | 51..161 | Exon (4) | 162..333 | Exon (5) | 334..425 | Exon (6) | 426..654 | Exon (7) | 655..1028 | Exon (8) | 1029..1169 | Exon (9) | 1170..1376 | Exon (10) | 1377..1545 | Exon (11) | 1546..1714 | Exon (12) | 1715..2324 |
| Translation | MSALLQDPMIAGQVSKPLLSVRSEMNAELRGEDKAATSDSELNEPLLAPVESNDSEDTPS
KLFGARGNPALSDPGTPDQHQASQTHPPFPVGPQPLLTAQQLASAVAGVMPGGPPALNQP
ILIPFNMAGQLGGQQGLVLTLPTANLTNIQGLVAAAAAGGIMTLPLQNLQATSSLNSQLQ
QLQLQLQQQQQQQQQQPPPSTNQHPQPAPQAPSQSQQQPLQPTPPQQPPPASQQPPAPTS
QLQQAPQPQQHQPHSHSQNQNQPSPTQQSSSPPQKPSQSPGHGLPSPLTPPNPLQLVNNP
LASQAAAAAAAMSSIASSQAFGNALSSLQGVTGQLVTNAQGQIIGTIPLMPNPGPSSQAA
SGTQGLQVQPITPQLLTNAQGQIIATVIGNQILPVINTQGITLSPIKPGQQLHQPSQTSV
GQAASQGNLLHLAHSQASMSQSPVRQASSSSSSSSSSSALSVGQLVSNPQTAAGEVDGVN
LEEIREFAKAFKIRRLSLGLTQTQVGQALSATEGPAYSQSAICRHTILRSHFFLPQEAQE
NTIASSLTAKLNPGLLYPARFEKLDITPKSAQKIKPVLERWMAEAEARHRAGMQNLTEFI
GSEPSKKRKRRTSFTPQALEILNAHFEKNTHPSGQEMTEIAEKLNYDREVVRVWFCNKRQ
ALKNTIKRLKQHEPATAVPLEPLTDSLEENS
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| Position | Chain | Variation | Link |
| 716 | + | g, t | dbSNP:121918261 |
| complement(739) | - | g, a | dbSNP:2074936 |
| 845 | + | g, t | dbSNP:80127606 |
| 899..900 | + | , c | dbSNP:35091229 |
| complement(1175) | - | g, a | dbSNP:2302124 |
| complement(1202) | - | t, c | dbSNP:2302123 |
| complement(1340) | - | t, c | dbSNP:2302122 |
| 1426 | + | a, c | dbSNP:75367520 |
| 1641 | + | a, c | dbSNP:4992268 |
| 2058 | + | a, g | dbSNP:7804851 |
| Gene Symbol | POU6F2 |
| Gene Synonym | RPF-1; WT5; WTSL |
| Chromosome | 7 |
| Locus Map | 7p14.1 |
| All Transcripts | NM_007252 , NM_001166018 |
| 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 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (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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