2025-05-09 19:36:48, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_012476 1163 bp mRNA linear PRI 17-APR-2013 DEFINITION Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA. ACCESSION NM_012476 VERSION NM_012476.2 GI:205277331 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 1163) AUTHORS Lopes,M.C., Hysi,P.G., Verhoeven,V.J., Macgregor,S., Hewitt,A.W., Montgomery,G.W., Cumberland,P., Vingerling,J.R., Young,T.L., van Duijn,C.M., Oostra,B., Uitterlinden,A.G., Rahi,J.S., Mackey,D.A., Klaver,C.C., Andrew,T. and Hammond,C.J. TITLE Identification of a candidate gene for astigmatism JOURNAL Invest. Ophthalmol. Vis. Sci. 54 (2), 1260-1267 (2013) PUBMED 23322567 REMARK GeneRIF: A susceptibility locus was identified with lead single nucleotide polymorphism rs3771395 on chromosome 2p13.3 (meta-analysis, P = 1.97 x 10(-7)) in the VAX2 gene for astigmatism. Publication Status: Online-Only REFERENCE 2 (bases 1 to 1163) AUTHORS Oshikawa,M., Tsutsui,C., Ikegami,T., Fuchida,Y., Matsubara,M., Toyama,S., Usami,R., Ohtoko,K. and Kato,S. TITLE Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method JOURNAL Invest. Ophthalmol. Vis. Sci. 52 (9), 6662-6670 (2011) PUBMED 21697133 REMARK Publication Status: Online-Only REFERENCE 3 (bases 1 to 1163) AUTHORS Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. CONSRTM DREAM investigators TITLE Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study JOURNAL Diabetes Care 33 (10), 2250-2253 (2010) PUBMED 20628086 REMARK GeneRIF: Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) REFERENCE 4 (bases 1 to 1163) AUTHORS Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C., Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R., Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A., Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C., Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S., Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N., Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D. CONSRTM ASCOT investigators; NORDIL investigators; BRIGHT Consortium TITLE Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip JOURNAL Am. J. Hum. Genet. 85 (5), 628-642 (2009) PUBMED 19913121 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 5 (bases 1 to 1163) AUTHORS Holland,P.W., Booth,H.A. and Bruford,E.A. TITLE Classification and nomenclature of all human homeobox genes JOURNAL BMC Biol. 5, 47 (2007) PUBMED 17963489 REMARK Publication Status: Online-Only REFERENCE 6 (bases 1 to 1163) AUTHORS Beaty,T.H., Hetmanski,J.B., Fallin,M.D., Park,J.W., Sull,J.W., McIntosh,I., Liang,K.Y., Vanderkolk,C.A., Redett,R.J., Boyadjiev,S.A., Jabs,E.W., Chong,S.S., Cheah,F.S., Wu-Chou,Y.H., Chen,P.K., Chiu,Y.F., Yeow,V., Ng,I.S., Cheng,J., Huang,S., Ye,X., Wang,H., Ingersoll,R. and Scott,A.F. TITLE Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations JOURNAL Hum. Genet. 120 (4), 501-518 (2006) PUBMED 16953426 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 7 (bases 1 to 1163) AUTHORS Barbieri,A.M., Lupo,G., Bulfone,A., Andreazzoli,M., Mariani,M., Fougerousse,F., Consalez,G.G., Borsani,G., Beckmann,J.S., Barsacchi,G., Ballabio,A. and Banfi,S. TITLE A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (19), 10729-10734 (1999) PUBMED 10485894 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from Y17791.1. This sequence is a reference standard in the RefSeqGene project. On Sep 19, 2008 this sequence version replaced gi:7110734. Summary: This gene encodes a homeobox protein and is almost exclusively expressed in the ventral portion of the retina during development. In mouse studies, this gene was found to be required for the correct formation of the optic fissure and other aspects of retinal development. [provided by RefSeq, Sep 2008]. ##Evidence-Data-START## Transcript exon combination :: Y17791.1, AB593145.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support ERS025087, ERS025088 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-965 Y17791.1 1-965 966-1163 Y17791.1 967-1164 FEATURES Location/Qualifiers source 1..1163 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="2" /map="2p13" gene 1..1163 /gene="VAX2" /gene_synonym="DRES93" /note="ventral anterior homeobox 2" /db_xref="GeneID:25806" /db_xref="HGNC:12661" /db_xref="HPRD:05051" /db_xref="MIM:604295" exon 1..279 /gene="VAX2" /gene_synonym="DRES93" /inference="alignment:Splign:1.39.8" variation 5 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:2234494" variation 28..34 /gene="VAX2" /gene_synonym="DRES93" /replace="" /replace="tcagcat" /db_xref="dbSNP:151056092" CDS 33..905 /gene="VAX2" /gene_synonym="DRES93" /codon_start=1 /product="ventral anterior homeobox 2" /protein_id="NP_036608.1" /db_xref="GI:7110735" /db_xref="CCDS:CCDS1911.1" /db_xref="GeneID:25806" /db_xref="HGNC:12661" /db_xref="HPRD:05051" /db_xref="MIM:604295" /translation="
MGDGGAERDRGPARRAESGGGGGRCGDRSGAGDLRADGGGHSPTEVAGTSASSPAGSRESGADSDGQPGPGEADHCRRILVRDAKGTIREIVLPKGLDLDRPKRTRTSFTAEQLYRLEMEFQRCQYVVGRERTELARQLNLSETQVKVWFQNRRTKQKKDQSRDLEKRASSSASEAFATSNILRLLEQGRLLSVPRAPSLLALTPSLPGLPASHRGTSLGDPRNSSPRLNPLSSASASPPLPPPLPAVCFSSAPLLDLPAGYELGSSAFEPYSWLERKVGSASSCKKANT
" misc_feature 339..515 /gene="VAX2" /gene_synonym="DRES93" /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(339..353,357..359,408..410,426..428,465..467, 471..476,483..488,492..500,504..509) /gene="VAX2" /gene_synonym="DRES93" /note="DNA binding site [nucleotide binding]" /db_xref="CDD:28970" misc_feature order(345..347,354..356,474..476,483..488,495..497) /gene="VAX2" /gene_synonym="DRES93" /note="specific DNA base contacts [nucleotide binding]; other site" /db_xref="CDD:28970" variation 75 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:2234495" variation 87 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:61275549" variation 102 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:2234496" variation 168 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:200413581" variation 172 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:61753452" exon 280..467 /gene="VAX2" /gene_synonym="DRES93" /inference="alignment:Splign:1.39.8" variation 297 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:139950648" variation 311 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:200929150" variation 326 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:183938302" variation 333 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:145801795" variation 343 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:199781570" variation 378 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:145436494" variation 396..397 /gene="VAX2" /gene_synonym="DRES93" /replace="" /replace="c" /db_xref="dbSNP:35311617" variation 400 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:142434739" variation 421 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:148304948" variation 423 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:200582274" variation 426 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:150176075" variation 435 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:141797280" variation 441 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:137915944" variation 442 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:145930788" variation 447 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:56075602" variation 459 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:375241285" exon 468..1147 /gene="VAX2" /gene_synonym="DRES93" /inference="alignment:Splign:1.39.8" variation 490 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:145503713" variation 512 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:201302985" variation 526 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:145701453" variation 529 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="t" /db_xref="dbSNP:368226464" variation 530 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:200905563" variation 534 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:202064044" variation 554 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:372067757" variation 572 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:375536449" variation 581 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:199640308" variation 582 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:201863357" variation 637 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:369829011" variation 641 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:372003294" variation 647 /gene="VAX2" /gene_synonym="DRES93" /replace="g" /replace="t" /db_xref="dbSNP:200923058" variation 652 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:375782827" variation 654 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:143185254" variation 661 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:2234498" variation 682 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:372789757" variation 689 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:142431637" variation 715 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:2234499" variation 724 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:376990356" variation 743 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:144443163" variation 746 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:144120968" variation 750 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:368886091" variation 751 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:140956448" variation 757 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:183405602" variation 770 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="t" /db_xref="dbSNP:139309761" variation 774 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:149973402" variation 788 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:140378557" variation 791 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:146481119" variation 793 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:2234500" variation 795 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:200750550" variation 818 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:372164857" variation 828 /gene="VAX2" /gene_synonym="DRES93" /replace="g" /replace="t" /db_xref="dbSNP:377703915" variation 832 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:141208791" variation 857 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:2234501" variation 861 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:200587085" variation 863 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:373583380" variation 876 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:147336899" STS 877..1021 /gene="VAX2" /gene_synonym="DRES93" /standard_name="PMC17951P1" /db_xref="UniSTS:271660" variation 910 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:368359306" variation 992 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="g" /db_xref="dbSNP:2270262" variation 1017 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:371015613" variation 1020 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:188835580" variation 1034 /gene="VAX2" /gene_synonym="DRES93" /replace="" /replace="a" /db_xref="dbSNP:139189301" variation 1069 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:55783951" variation 1081 /gene="VAX2" /gene_synonym="DRES93" /replace="c" /replace="t" /db_xref="dbSNP:144708042" variation 1103 /gene="VAX2" /gene_synonym="DRES93" /replace="g" /replace="t" /db_xref="dbSNP:139621053" polyA_signal 1117..1122 /gene="VAX2" /gene_synonym="DRES93" variation 1122 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="g" /db_xref="dbSNP:144446709" variation 1137 /gene="VAX2" /gene_synonym="DRES93" /replace="a" /replace="c" /db_xref="dbSNP:146118364" polyA_site 1143 /gene="VAX2" /gene_synonym="DRES93" polyA_site 1147 /gene="VAX2" /gene_synonym="DRES93" ORIGIN
ccgccgtagaggggttggcagtggcggtcagcatgggcgatgggggcgccgagcgcgaccggggccccgcgcgccgggcggagtctggtggcggcggtgggcgctgcggagaccgcagcggagcgggggacttgcgagctgatggcggtggccacagcccaacggaggtggccgggacctcagcctccagtcccgcaggctccagggagagtggagccgacagcgacgggcagcccgggcccggcgaggcagaccactgccgccgcatactggtgcgagatgccaaagggacaattcgggaaattgtcctgcctaagggcctggacctggaccggcccaagcggacacgtacatccttcactgccgagcagctgtaccgcctggagatggagttccagcgctgccagtatgtggtgggccgcgagcgcactgagctggcccgccagctgaacctctccgagacccaggtgaaggtctggttccagaaccgccgcaccaagcagaagaaagaccagagcagagacctggagaagcgggcgtcctcctcagcctccgaggcctttgccacctccaacattctgcggctgctggagcagggccggctgctctctgtgcccagggcccctagcctcctggcgctgacccctagcctgccaggcctacctgccagccacaggggcacctccttaggtgaccccaggaactcctccccacgcctcaacccgctgtcctcggcctcagcgtcccccccactgccgccccctctgccagctgtctgcttttcctcggccccgctcctggatctgcctgccggctacgaactgggttcctcggccttcgagccatacagctggctagaacggaaagtgggcagcgccagcagctgcaagaaagctaacacttaagactcccaccctgtgacactgagtcccgagcacagcaccttcccagtctcctgtgccccagcggacagcactgagcaggccccggagaggaggggctgcagccacacactcttccccacctgccccccagctcagagactcgtgaccaaatggccttggtcccgcagcttgtgtgcgtgagtgcagtgtgagtgtgtgtgtctctcactgaaataaaaggaaaacaatgacaagaagggaaaaaaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:25806 -> Molecular function: GO:0000976 [transcription regulatory region sequence-specific DNA binding] evidence: IEA GeneID:25806 -> Molecular function: GO:0003700 [sequence-specific DNA binding transcription factor activity] evidence: IEA GeneID:25806 -> Molecular function: GO:0031490 [chromatin DNA binding] evidence: IEA GeneID:25806 -> Biological process: GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] evidence: IEA GeneID:25806 -> Biological process: GO:0006351 [transcription, DNA-dependent] evidence: IEA GeneID:25806 -> Biological process: GO:0007398 [ectoderm development] evidence: TAS GeneID:25806 -> Biological process: GO:0007409 [axonogenesis] evidence: IEA GeneID:25806 -> Biological process: GO:0007601 [visual perception] evidence: TAS GeneID:25806 -> Biological process: GO:0009950 [dorsal/ventral axis specification] evidence: IEA GeneID:25806 -> Biological process: GO:0016055 [Wnt receptor signaling pathway] evidence: IEA GeneID:25806 -> Biological process: GO:0030900 [forebrain development] evidence: ISS GeneID:25806 -> Biological process: GO:0048048 [embryonic eye morphogenesis] evidence: IEA GeneID:25806 -> Biological process: GO:0060041 [retina development in camera-type eye] evidence: IEA GeneID:25806 -> Cellular component: GO:0005634 [nucleus] evidence: IEA GeneID:25806 -> Cellular component: GO:0005737 [cytoplasm] evidence: IEA
by
@meso_cacase at
DBCLS
This page is licensed under a Creative Commons Attribution 2.1 Japan License.