VAX2_HUMAN
ID VAX2_HUMAN Reviewed; 290 AA.
AC Q9UIW0; Q53Y33;
DT 10-MAY-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-MAY-2000, sequence version 1.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=Ventral anterior homeobox 2;
GN Name=VAX2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], POSSIBLE FUNCTION IN EYE DEVELOPMENT, AND
RP DEVELOPMENTAL STAGE.
RC TISSUE=Teratocarcinoma;
RX PubMed=10485894; DOI=10.1073/pnas.96.19.10729;
RA Barbieri A.M., Lupo G., Bulfone A., Andreazzoli M., Mariani M.,
RA Fougerousse F., Consalez G.G., Borsani G., Beckmann J.S., Barsacchi G.,
RA Ballabio A., Banfi S.;
RT "A homeobox gene, vax2, controls the patterning of the eye dorsoventral
RT axis.";
RL Proc. Natl. Acad. Sci. U.S.A. 96:10729-10734(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP VARIANTS GLY-24 AND ARG-254.
RX PubMed=22095910; DOI=10.1002/humu.21658;
RA Slavotinek A.M., Chao R., Vacik T., Yahyavi M., Abouzeid H., Bardakjian T.,
RA Schneider A., Shaw G., Sherr E.H., Lemke G., Youssef M., Schorderet D.F.;
RT "VAX1 mutation associated with microphthalmia, corpus callosum agenesis,
RT and orofacial clefting: The first description of a VAX1 phenotype in
RT humans.";
RL Hum. Mutat. 33:364-368(2012).
CC -!- FUNCTION: Transcription factor that may function in dorsoventral
CC specification of the forebrain. Regulates the expression of Wnt
CC signaling antagonists including the expression of a truncated TCF7L2
CC isoform that cannot bind CTNNB1 and acts therefore as a potent
CC dominant-negative Wnt antagonist. Plays a crucial role in eye
CC development and, in particular, in the specification of the ventral
CC optic vesicle (By similarity). May be a regulator of axial polarization
CC in the retina. {ECO:0000250}.
CC -!- INTERACTION:
CC Q9UIW0; Q99471: PFDN5; NbExp=3; IntAct=EBI-12090999, EBI-357275;
CC Q9UIW0; P78424: POU6F2; NbExp=3; IntAct=EBI-12090999, EBI-12029004;
CC Q9UIW0; Q6NVU6: UFSP1; NbExp=3; IntAct=EBI-12090999, EBI-12068150;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- DEVELOPMENTAL STAGE: Expressed in the ventral part of the optic
CC vesicles at 7 week dpc. {ECO:0000269|PubMed:10485894}.
CC -!- SIMILARITY: Belongs to the EMX homeobox family. {ECO:0000305}.
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DR EMBL; Y17791; CAB56166.1; -; mRNA.
DR EMBL; BT007035; AAP35683.1; -; mRNA.
DR EMBL; CH471053; EAW99792.1; -; Genomic_DNA.
DR EMBL; BC006336; AAH06336.1; -; mRNA.
DR CCDS; CCDS1911.1; -.
DR RefSeq; NP_036608.1; NM_012476.2.
DR AlphaFoldDB; Q9UIW0; -.
DR SMR; Q9UIW0; -.
DR BioGRID; 117338; 8.
DR IntAct; Q9UIW0; 6.
DR STRING; 9606.ENSP00000234392; -.
DR iPTMnet; Q9UIW0; -.
DR PhosphoSitePlus; Q9UIW0; -.
DR BioMuta; VAX2; -.
DR DMDM; 20532295; -.
DR MassIVE; Q9UIW0; -.
DR PaxDb; Q9UIW0; -.
DR PeptideAtlas; Q9UIW0; -.
DR PRIDE; Q9UIW0; -.
DR ProteomicsDB; 84572; -.
DR Antibodypedia; 31160; 122 antibodies from 24 providers.
DR DNASU; 25806; -.
DR Ensembl; ENST00000234392.3; ENSP00000234392.2; ENSG00000116035.4.
DR GeneID; 25806; -.
DR KEGG; hsa:25806; -.
DR MANE-Select; ENST00000234392.3; ENSP00000234392.2; NM_012476.3; NP_036608.1.
DR UCSC; uc002shh.4; human.
DR CTD; 25806; -.
DR DisGeNET; 25806; -.
DR GeneCards; VAX2; -.
DR HGNC; HGNC:12661; VAX2.
DR HPA; ENSG00000116035; Group enriched (brain, retina).
DR MIM; 604295; gene.
DR neXtProt; NX_Q9UIW0; -.
DR OpenTargets; ENSG00000116035; -.
DR PharmGKB; PA37284; -.
DR VEuPathDB; HostDB:ENSG00000116035; -.
DR eggNOG; KOG0843; Eukaryota.
DR GeneTree; ENSGT00940000161043; -.
DR HOGENOM; CLU_071850_1_0_1; -.
DR InParanoid; Q9UIW0; -.
DR OMA; SAFEPYN; -.
DR OrthoDB; 1094882at2759; -.
DR PhylomeDB; Q9UIW0; -.
DR TreeFam; TF319504; -.
DR PathwayCommons; Q9UIW0; -.
DR SignaLink; Q9UIW0; -.
DR BioGRID-ORCS; 25806; 13 hits in 1096 CRISPR screens.
DR ChiTaRS; VAX2; human.
DR GenomeRNAi; 25806; -.
DR Pharos; Q9UIW0; Tbio.
DR PRO; PR:Q9UIW0; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9UIW0; protein.
DR Bgee; ENSG00000116035; Expressed in cerebellar hemisphere and 89 other tissues.
DR ExpressionAtlas; Q9UIW0; baseline and differential.
DR Genevisible; Q9UIW0; HS.
DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR GO; GO:0005737; C:cytoplasm; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0031490; F:chromatin DNA binding; IEA:Ensembl.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; NAS:ProtInc.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IEA:Ensembl.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0001162; F:RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0007409; P:axonogenesis; IEA:Ensembl.
DR GO; GO:0007417; P:central nervous system development; IBA:GO_Central.
DR GO; GO:0009950; P:dorsal/ventral axis specification; IEA:Ensembl.
DR GO; GO:0007398; P:ectoderm development; TAS:ProtInc.
DR GO; GO:0048048; P:embryonic eye morphogenesis; IEA:Ensembl.
DR GO; GO:0030900; P:forebrain development; ISS:UniProtKB.
DR GO; GO:0030182; P:neuron differentiation; IBA:GO_Central.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
DR GO; GO:0007601; P:visual perception; TAS:ProtInc.
DR GO; GO:0016055; P:Wnt signaling pathway; IEA:UniProtKB-KW.
DR CDD; cd00086; homeodomain; 1.
DR InterPro; IPR009057; Homeobox-like_sf.
DR InterPro; IPR017970; Homeobox_CS.
DR InterPro; IPR001356; Homeobox_dom.
DR InterPro; IPR020479; Homeobox_metazoa.
DR InterPro; IPR000047; HTH_motif.
DR InterPro; IPR033021; Vax2.
DR PANTHER; PTHR24339:SF34; PTHR24339:SF34; 1.
DR Pfam; PF00046; Homeodomain; 1.
DR PRINTS; PR00024; HOMEOBOX.
DR PRINTS; PR00031; HTHREPRESSR.
DR SMART; SM00389; HOX; 1.
DR SUPFAM; SSF46689; SSF46689; 1.
DR PROSITE; PS00027; HOMEOBOX_1; 1.
DR PROSITE; PS50071; HOMEOBOX_2; 1.
PE 1: Evidence at protein level;
KW Developmental protein; DNA-binding; Homeobox; Nucleus; Reference proteome;
KW Transcription; Transcription regulation; Wnt signaling pathway.
FT CHAIN 1..290
FT /note="Ventral anterior homeobox 2"
FT /id="PRO_0000049351"
FT DNA_BIND 102..161
FT /note="Homeobox"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108"
FT REGION 1..75
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 205..240
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1..15
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 45..60
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 218..235
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 24
FT /note="R -> G (in dbSNP:rs2234496)"
FT /evidence="ECO:0000269|PubMed:22095910"
FT /id="VAR_067308"
FT VARIANT 254
FT /note="P -> R (in dbSNP:rs2234500)"
FT /evidence="ECO:0000269|PubMed:22095910"
FT /id="VAR_020152"
SQ SEQUENCE 290 AA; 30874 MW; 917164EE66E66051 CRC64;
MGDGGAERDR GPARRAESGG GGGRCGDRSG AGDLRADGGG HSPTEVAGTS ASSPAGSRES
GADSDGQPGP GEADHCRRIL VRDAKGTIRE IVLPKGLDLD RPKRTRTSFT AEQLYRLEME
FQRCQYVVGR ERTELARQLN LSETQVKVWF QNRRTKQKKD QSRDLEKRAS SSASEAFATS
NILRLLEQGR LLSVPRAPSL LALTPSLPGL PASHRGTSLG DPRNSSPRLN PLSSASASPP
LPPPLPAVCF SSAPLLDLPA GYELGSSAFE PYSWLERKVG SASSCKKANT
