2025-05-09 20:30:49, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_182894 2995 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens visual system homeobox 2 (VSX2), mRNA. ACCESSION NM_182894 XM_290610 VERSION NM_182894.2 GI:156071534 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 2995) AUTHORS Reis,L.M., Khan,A., Kariminejad,A., Ebadi,F., Tyler,R.C. and Semina,E.V. TITLE VSX2 mutations in autosomal recessive microphthalmia JOURNAL Mol. Vis. 17, 2527-2532 (2011) PUBMED 21976963 REMARK GeneRIF: Mutations in VSX2 represent an important cause of autosomal recessive microphthalmia in consanguineous pedigrees. REFERENCE 2 (bases 1 to 2995) AUTHORS Gonzalez-Rodriguez,J., Pelcastre,E.L., Tovilla-Canales,J.L., Garcia-Ortiz,J.E., Amato-Almanza,M., Villanueva-Mendoza,C., Espinosa-Mattar,Z. and Zenteno,J.C. TITLE Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases JOURNAL Br J Ophthalmol 94 (8), 1100-1104 (2010) PUBMED 20494911 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 3 (bases 1 to 2995) AUTHORS Iseri,S.U., Wyatt,A.W., Nurnberg,G., Kluck,C., Nurnberg,P., Holder,G.E., Blair,E., Salt,A. and Ragge,N.K. TITLE Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy JOURNAL Hum. Genet. 128 (1), 51-60 (2010) PUBMED 20414678 REMARK GeneRIF: study identified 3 recessive VSX2 mutations associated with isolated congenital anophthalmia or severe microphthalmia; also identified a novel inner retinal dystrophy in 2 carrier parents suggesting a semidominant effect for this particular VSX2 mutation REFERENCE 4 (bases 1 to 2995) AUTHORS Nagel,S., Venturini,L., Marquez,V.E., Meyer,C., Kaufmann,M., Scherr,M., MacLeod,R.A. and Drexler,H.G. TITLE Polycomb repressor complex 2 regulates HOXA9 and HOXA10, activating ID2 in NK/T-cell lines JOURNAL Mol. Cancer 9, 151 (2010) PUBMED 20565746 REMARK GeneRIF: major differentiation factors of the NK-cell lineage, including HOXA9, HOXA10 and ID2, were (de)regulated via PRC2 which therefore contributes to T-cell leukemogenesis. Publication Status: Online-Only REFERENCE 5 (bases 1 to 2995) AUTHORS Zhang,X., Li,S., Xiao,X., Jia,X., Wang,P., Shen,H., Guo,X. and Zhang,Q. TITLE Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma JOURNAL Mol. Vis. 15, 2911-2918 (2009) PUBMED 20057906 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 6 (bases 1 to 2995) AUTHORS Dorval,K.M., Bobechko,B.P., Ahmad,K.F. and Bremner,R. TITLE Transcriptional activity of the paired-like homeodomain proteins CHX10 and VSX1 JOURNAL J. Biol. Chem. 280 (11), 10100-10108 (2005) PUBMED 15647262 REMARK GeneRIF: CHX10 and VSX1 may control retinal bipolar cell specification or differentiation by repressing genes required for the development of other cell types REFERENCE 7 (bases 1 to 2995) AUTHORS Bar-Yosef,U., Abuelaish,I., Harel,T., Hendler,N., Ofir,R. and Birk,O.S. TITLE CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds JOURNAL Hum. Genet. 115 (4), 302-309 (2004) PUBMED 15257456 REFERENCE 8 (bases 1 to 2995) AUTHORS Mikkola,I., Bruun,J.A., Holm,T. and Johansen,T. TITLE Superactivation of Pax6-mediated transactivation from paired domain-binding sites by dna-independent recruitment of different homeodomain proteins JOURNAL J. Biol. Chem. 276 (6), 4109-4118 (2001) PUBMED 11069920 REFERENCE 9 (bases 1 to 2995) AUTHORS Ferda Percin,E., Ploder,L.A., Yu,J.J., Arici,K., Horsford,D.J., Rutherford,A., Bapat,B., Cox,D.W., Duncan,A.M., Kalnins,V.I., Kocak-Altintas,A., Sowden,J.C., Traboulsi,E., Sarfarazi,M. and McInnes,R.R. TITLE Human microphthalmia associated with mutations in the retinal homeobox gene CHX10 JOURNAL Nat. Genet. 25 (4), 397-401 (2000) PUBMED 10932181 REFERENCE 10 (bases 1 to 2995) AUTHORS McAlpine,P.J. and Shows,T.B. TITLE Nomenclature for human homeobox genes JOURNAL Genomics 7 (3), 460 (1990) PUBMED 1973146 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AC006349.3 and AC005519.4. This sequence is a reference standard in the RefSeqGene project. On Aug 16, 2007 this sequence version replaced gi:34365782. Summary: This gene encodes a homeobox protein originally described as a retina-specific transcription factor. Mutations in this gene are associated with microphthalmia, cataracts and iris abnormalities. [provided by RefSeq, Oct 2009]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. 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 :: AY336059.1, BC128153.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025095 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-460 AC006349.3 12896-13355 c 461-545 AC006349.3 11561-11645 c 546-669 AC006349.3 7539-7662 c 670-850 AC005519.4 134920-135100 c 851-2995 AC005519.4 131964-134108 c FEATURES Location/Qualifiers source 1..2995 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q24.3" gene 1..2995 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /note="visual system homeobox 2" /db_xref="GeneID:338917" /db_xref="HGNC:1975" /db_xref="HPRD:08852" /db_xref="MIM:142993" exon 1..460 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /inference="alignment:Splign:1.39.8" variation 34 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="g" /db_xref="dbSNP:373352297" variation 45 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="g" /db_xref="dbSNP:115662253" misc_feature 52..54 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /note="upstream in-frame stop codon" STS 63..1210 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /db_xref="UniSTS:483569" CDS 91..1176 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /note="homeobox protein CHX10; ceh-10 homeodomain-containing homolog; ceh-10 homeo domain containing homolog" /codon_start=1 /product="visual system homeobox 2" /protein_id="NP_878314.1" /db_xref="GI:34365783" /db_xref="CCDS:CCDS9827.1" /db_xref="GeneID:338917" /db_xref="HGNC:1975" /db_xref="HPRD:08852" /db_xref="MIM:142993" /translation="
MTGKAGEALSKPKSETVAKSTSGGAPARCTGFGIQEILGLNKEPPSSHPRAALDGLAPGHLLAARSVLSPAGVGGMGLLGPGGLPGFYTQPTFLEVLSDPQSVHLQPLGRASGPLDTSQTASSDSEDVSSSDRKMSKSALNQTKKRKKRRHRTIFTSYQLEELEKAFNEAHYPDVYAREMLAMKTELPEDRIQVWFQNRRAKWRKREKCWGRSSVMAEYGLYGAMVRHSIPLPESILKSAKDGIMDSCAPWLLGMHKKSLEAAAESGRKPEGERQALPKLDKMEQDERGPDAQAAISQEELRENSIAVLRAKAQEHSTKVLGTVSGPDSLARSTEKPEEEEAMDEDRPAERLSPPQLEDMA
" misc_feature 547..711 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /note="Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner; Region: homeodomain; cd00086" /db_xref="CDD:28970" misc_feature order(547..549,553..555,604..606,622..624,661..663, 667..672,679..684,688..696,700..705) /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(550..552,670..672,679..684,691..693) /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" misc_feature 985..1041 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /note="OAR domain; Region: OAR; pfam03826" /db_xref="CDD:146451" misc_feature 1000..1041 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /experiment="experimental evidence, no additional details recorded" /note="propagated from UniProtKB/Swiss-Prot (P58304.1); Region: OAR" variation 252 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:61747367" variation 261 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="g" /db_xref="dbSNP:201395979" variation 312 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:200824722" variation 334 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:375294678" variation 357 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="g" /replace="t" /db_xref="dbSNP:369629867" variation 359 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="t" /db_xref="dbSNP:190729581" variation 389 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:35214083" variation 398 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:375237762" exon 461..545 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /inference="alignment:Splign:1.39.8" variation 475 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:145866932" variation 486 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:112923895" exon 546..669 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /inference="alignment:Splign:1.39.8" variation 561 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:35435463" variation 573 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="g" /replace="t" /db_xref="dbSNP:143366810" variation 607 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:375663408" variation 612 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:78509400" variation 622 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:143480909" variation 629 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:147167593" variation 637 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:113142527" variation 654 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:201354547" variation 669 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:182972044" exon 670..850 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /inference="alignment:Splign:1.39.8" variation 686 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:377740442" variation 689 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /replace="g" /db_xref="dbSNP:121912543" variation 707 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:138619416" variation 725 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="g" /replace="t" /db_xref="dbSNP:368725719" variation 741 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:150792267" variation 744 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="g" /replace="t" /db_xref="dbSNP:139224826" variation 756 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:373242858" variation 763 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:200389260" variation 769 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:121912545" variation 789 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:141712104" variation 804 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:377107974" variation 840 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:192712847" exon 851..2995 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /inference="alignment:Splign:1.39.8" variation 867 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="g" /replace="t" /db_xref="dbSNP:371707151" variation 888 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:189139917" variation 910 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="g" /db_xref="dbSNP:375155660" variation 911 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:369647679" variation 921 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:62006815" variation 924..925 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="c" /db_xref="dbSNP:60106203" variation 949 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:200256286" variation 952 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:76055170" variation 953 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:375426810" variation 956 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:199473712" variation 961 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:75395981" variation 963 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /replace="t" /db_xref="dbSNP:146821562" variation 996 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:369042868" variation 1006..1007 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="t" /db_xref="dbSNP:34895184" variation 1006 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:140496487" variation 1010 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:181704375" variation 1029 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="t" /db_xref="dbSNP:372651860" variation 1101..1102 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="gag" /db_xref="dbSNP:144220788" variation 1113 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:144219756" variation 1116 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:199528979" variation 1136 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:137872696" variation 1155 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:370443332" variation 1159..1165 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="ctggagg" /db_xref="dbSNP:201981942" variation 1184 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:373971416" variation 1187 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:140814896" variation 1201 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:374436224" variation 1215 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:117813701" variation 1230 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:144840915" variation 1246 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:138760799" variation 1332 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:141741225" variation 1426 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:144569223" variation 1437 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="g" /replace="t" /db_xref="dbSNP:115396145" variation 1467 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="t" /db_xref="dbSNP:148109679" variation 1494 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:184078751" variation 1592 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:189778670" variation 1631 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:73309254" variation 1651 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:180856135" variation 1755 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:12588074" variation 1846 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:45556237" variation 1850 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:185981255" variation 1908 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:150646795" variation 1958 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:140678898" variation 1995 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:74694887" variation 2031 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:45608043" variation 2064..2065 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="ct" /db_xref="dbSNP:201083658" variation 2065..2066 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="tc" /db_xref="dbSNP:34203376" variation 2138 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:367835329" variation 2161 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="g" /db_xref="dbSNP:192089790" variation 2205 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="t" /db_xref="dbSNP:45474800" variation 2250 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:34263984" variation 2337 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:147524933" variation 2388 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:117409214" variation 2428 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:28441537" variation 2477 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:111457561" variation 2478 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:8020424" variation 2487 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:114889622" variation 2553 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:150033933" variation 2687 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:145366747" variation 2713 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:149197006" variation 2721..2722 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="tt" /db_xref="dbSNP:10592020" variation 2741 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:142543750" variation 2761 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:6574170" variation 2771 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:112115147" variation 2782 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="g" /db_xref="dbSNP:146455625" variation 2789 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="g" /db_xref="dbSNP:181946575" variation 2809 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="" /replace="c" /db_xref="dbSNP:59105417" variation 2816 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="c" /replace="t" /db_xref="dbSNP:140752449" variation 2966 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:76257502" polyA_signal 2975..2980 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" variation 2979 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" /replace="a" /replace="c" /db_xref="dbSNP:11848458" polyA_site 2995 /gene="VSX2" /gene_synonym="CHX10; HOX10; MCOP2; MCOPCB3; RET1" ORIGIN
cctgggaccaacttcgcgaagcgggaagcccggcgggggggtggggggagctaaagacctgcggcctcagcccctccaaagaacagggagatgacggggaaagcaggggaagcgctgagcaagcccaaatccgagacagtggccaagagtacctcggggggcgccccggccaggtgcactgggttcggcatccaggagatcctgggcttgaacaaggagcccccgagctcccacccgcgggcagcgctcgacggcctggcccccgggcacttgctggcggcgcgctcagtgctcagccccgcgggggtgggcggcatggggcttctggggcccggggggctccctggcttctacacgcagcccaccttcctggaagtgctgtccgacccgcagagcgtccacttgcagccattgggcagagcatcggggccgctggacaccagccagacggccagctcggattctgaagatgtttcctccagcgatcgaaaaatgtccaaatctgctttaaaccagaccaagaaacggaagaagcggcgacacaggacaatctttacctcctaccagctagaggagctggagaaggcattcaacgaagcccactacccagacgtctatgcccgggagatgctggccatgaaaacggagctgccggaagacaggatacaggtctggttccagaaccgtcgagccaagtggaggaagcgggagaagtgctggggccggagcagtgtcatggcggagtatgggctctacggggccatggtgcggcactccatccccctgcccgagtccatcctcaagtcagccaaggatggcatcatggactcctgtgccccgtggctactggggatgcacaaaaagtcgctggaggcagcagccgagtcggggaggaagcccgagggggaacgccaggccctgcccaagctcgacaagatggagcaggacgagcggggccccgacgctcaggcggccatctcccaggaggaactgagggagaacagcattgcggtgctccgggccaaagctcaggagcacagcaccaaagtgctggggactgtgtctgggccggacagcctggcccggagtaccgagaagccagaggaggaggaggccatggatgaagacaggccggcggagaggctcagtccaccgcagctggaggacatggcttaggtcaaggcgcgctcagatgccggagccccaagactctgctctcctcgggccctgtggtgctgggagatgctctctgaggcaaggcccagacctggcctctgccatcctccctgttccccacaggtcctccatcacccctggtggctgcaggcaccgctgggttctgactctggaccatgctgagacatccctcatctagtcttgacctctccagcatcccagcctcagaagccttcttgctgcccacaacgtcccctcaagccccttctctcaatccctttgcaacgctcactggttttggccaccccttgctctctgttctcttgctttaaagagtcctccttcccagctctacattctgctctgcccatgcctaaagcccattgctgcaaatgcattgtgaattgcctgccatggctgtgacacagacggaggactggaactgcaactccagcgtcctcagcaccccactcctcagtaaaagtcttctcccaactcagcctgttccttcctgcagacctggctgggcctgggcttccacagtgtgaagacactgtgcaggcccaggcaggcccagcctctgccccacccatcagtggagtccagatggcaggctacagttgggaagtctcagcctgggcccctcagccacccttggtctcatgccccgccatggtcaccctcaggaacccaccctctccacacccagcctgtcccactggctcctcccagcacaggcacctatgtggcatgtggtgatgtacgctgcgtgccatgagtccatgtcctatgcctcacaaatgctgtggttcactgcactgttcaggagtccaaaccttctaccctgggtcctcgggcccctgagcctgtgtcctgaagaatctcgactctcgtgatatgctgcttgtgaccttgacttgccatgaaggcacctgcccccacagctccttgcaaactatgagttcacatgtgccctgccttgaacaacccaatctggctggtaaatgacatctacgaagccacaggcctggcctcaactgagaagccaagcctggagtaggcctggggctatgcatacgcattaagggcctgctggagaaaccttcactccagacagacagggggctaaggggctagggctgagcacctctcagagcaagcctttgacctgttcagaaggatgggaaaaaggctggaaggaaagcaaggcagaaggccaggagtaagcccaagctaagctgcaggcacacacgccttcatgccagtgcatgccaggaagcacgttcactagactaaaacacggtaaccatgatggaataaggagctggggcttctttctgctggctgatgggtggacctgtgtatggtgacctctccggcctggccttttccattcgcatgaacaatgggagcacatagccctgttgacctgcccgatccagattcccaggccaggctcccgaccccatccacctatccaccaccccacccacctttgcagggaatacctcgttagagaatggcctgagacagtgcgttgcaactttttaattccatatcaaaagttgatttcttcttcattccatttatggaacttccctccccctagtccggttcttcttgtctttgtccctgttggtttgaagtgttagactatagcccctggtgtgtaaataatgtacatagagtgagaagaaagaaacttgatattgaggtgtttgaaatatggaactgtaataacttctaggtattcgaaacctgtgatttctgtgccattttctgtaaagatacaagtaagaataaaattgacttaaaaata
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:338917 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:338917 -> Molecular function: GO:0043565 [sequence-specific DNA binding] evidence: IEA GeneID:338917 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:338917 -> Biological process: GO:0007601 [visual perception] evidence: IEA GeneID:338917 -> Biological process: GO:0008284 [positive regulation of cell proliferation] evidence: IEA GeneID:338917 -> Biological process: GO:0008285 [negative regulation of cell proliferation] evidence: IEA GeneID:338917 -> Biological process: GO:0045165 [cell fate commitment] evidence: IEA GeneID:338917 -> Biological process: GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:338917 -> Biological process: GO:0050896 [response to stimulus] evidence: IEA GeneID:338917 -> Biological process: GO:0060040 [retinal bipolar neuron differentiation] evidence: IEA GeneID:338917 -> Cellular component: GO:0005730 [nucleolus] evidence: IDA GeneID:338917 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
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