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Aliases for VAX2 Gene

Aliases for VAX2 Gene

  • Ventral Anterior Homeobox 2 2 3
  • DRES93 3

External Ids for VAX2 Gene

Summaries for VAX2 Gene

Entrez Gene Summary for VAX2 Gene

  • 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]

GeneCards Summary for VAX2 Gene

VAX2 (Ventral Anterior Homeobox 2) is a Protein Coding gene. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and chromatin DNA binding. An important paralog of this gene is EN2.

UniProtKB/Swiss-Prot for VAX2 Gene

  • Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VAX2 Gene

Genomics for VAX2 Gene

Genomic Location for VAX2 Gene

Start:
70,900,590 bp from pter
End:
70,933,446 bp from pter
Size:
32,857 bases
Orientation:
Plus strand

Genomic View for VAX2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for VAX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VAX2 Gene

Proteins for VAX2 Gene

  • Protein details for VAX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UIW0-VAX2_HUMAN
    Recommended name:
    Ventral anterior homeobox 2
    Protein Accession:
    Q9UIW0
    Secondary Accessions:
    • Q53Y33

    Protein attributes for VAX2 Gene

    Size:
    290 amino acids
    Molecular mass:
    30874 Da
    Quaternary structure:
    No Data Available

neXtProt entry for VAX2 Gene

Proteomics data for VAX2 Gene at MOPED

Post-translational modifications for VAX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for VAX2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VAX2 Gene

Domains for VAX2 Gene

Gene Families for VAX2 Gene

HGNC:
  • NKL :Homeoboxes / ANTP class : NKL subclass

Suggested Antigen Peptide Sequences for VAX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UIW0

UniProtKB/Swiss-Prot:

VAX2_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • Q9UIW0
Family:
  • Belongs to the EMX homeobox family.:
    • Q9UIW0
genes like me logo Genes that share domains with VAX2: view

Function for VAX2 Gene

Molecular function for VAX2 Gene

GENATLAS Biochemistry: ventral anterior homeobox 2,specifically expressed in the developing vertebral eye,controlling the patterning of the eye dorsoventral axis
UniProtKB/Swiss-Prot Function: Transcription factor that may function in dorsoventral specification of the forebrain. Regulates the expression of Wnt signaling antagonists including the expression of a truncated TCF7L2 isoform that cannot bind CTNNB1 and acts therefore as a potent dominant-negative Wnt antagonist. Plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle (By similarity). May be a regulator of axial polarization in the retina.

Gene Ontology (GO) - Molecular Function for VAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 10485894
GO:0031490 chromatin DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with VAX2: view
genes like me logo Genes that share phenotypes with VAX2: view

Animal Models for VAX2 Gene

MGI Knock Outs for VAX2:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for VAX2 Gene

Localization for VAX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VAX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for VAX2 Gene COMPARTMENTS Subcellular localization image for VAX2 gene
Compartment Confidence
nucleus 4

Gene Ontology (GO) - Cellular Components for VAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with VAX2: view

Pathways for VAX2 Gene

SuperPathways for VAX2 Gene

No Data Available

Interacting Proteins for VAX2 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000234392%0d%0a9606.ENSP00000328596%0d%0a9606.ENSP00000260653%0d%0a
Selected Interacting proteins: ENSP00000234392 Q9UIW0-VAX2_HUMAN for VAX2 Gene via STRING I2D

Gene Ontology (GO) - Biological Process for VAX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007398 ectoderm development TAS 10485894
GO:0007409 axonogenesis IEA --
GO:0007601 visual perception TAS 10485894
genes like me logo Genes that share ontologies with VAX2: view

No data available for Pathways by source for VAX2 Gene

Transcripts for VAX2 Gene

mRNA/cDNA for VAX2 Gene

(6) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(13) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VAX2 Gene

Ventral anterior homeobox 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for VAX2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b
SP1:
SP2: -

Relevant External Links for VAX2 Gene

GeneLoc Exon Structure for
VAX2
ECgene alternative splicing isoforms for
VAX2

Expression for VAX2 Gene

mRNA expression in normal human tissues for VAX2 Gene

mRNA differential expression in normal tissues according to GTEx for VAX2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (9.0) and Brain - Cerebellum (8.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for VAX2 Gene

SOURCE GeneReport for Unigene cluster for VAX2 Gene Hs.249170

genes like me logo Genes that share expressions with VAX2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for VAX2 Gene

Orthologs for VAX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for VAX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VAX2 35
  • 99.2 (n)
  • 99.31 (a)
VAX2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia VAX2 35
  • 88.15 (n)
  • 86.97 (a)
VAX2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia VAX2 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vax2 35
  • 86.04 (n)
  • 88.24 (a)
Vax2 16
Vax2 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VAX2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VAX2 36
  • 58 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vax2 35
  • 84.89 (n)
  • 86.16 (a)
chicken
(Gallus gallus)
Aves VAX1 36
  • 58 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia VAX2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485836 35
  • 62.78 (n)
  • 69.17 (a)
zebrafish
(Danio rerio)
Actinopterygii vax2 35
  • 64.87 (n)
  • 68.05 (a)
vax2 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG18599 36
  • 12 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for VAX2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for VAX2 Gene

ENSEMBL:
Gene Tree for VAX2 (if available)
TreeFam:
Gene Tree for VAX2 (if available)

Paralogs for VAX2 Gene

Paralogs for VAX2 Gene

Selected SIMAP similar genes for VAX2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with VAX2: view

Variants for VAX2 Gene

Sequence variations from dbSNP and Humsavar for VAX2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs722285 -- 70,910,064(+) TTGTC(A/G)ATTTT intron-variant
rs887885 -- 70,921,556(+) TGGGG(A/G)AGAGC intron-variant
rs959053 -- 70,928,442(+) AGCCC(A/G)TATGT intron-variant
rs959054 -- 70,928,722(+) ACTCC(C/T)CCACT intron-variant
rs1861076 -- 70,899,595(+) CCGCA(A/C)GCCTC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for VAX2 Gene

Variant ID Type Subtype PubMed ID
nsv519862 CNV Gain 19592680

Relevant External Links for VAX2 Gene

HapMap Linkage Disequilibrium report
VAX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VAX2 Gene

Disorders for VAX2 Gene

(2) University of Copenhagen DISEASES for VAX2 Gene

Relevant External Links for VAX2

Genetic Association Database (GAD)
VAX2
Human Genome Epidemiology (HuGE) Navigator
VAX2
genes like me logo Genes that share disorders with VAX2: view

No data available for UniProtKB/Swiss-Prot for VAX2 Gene

Publications for VAX2 Gene

  1. A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis. (PMID: 10485894) Barbieri A.M. … Banfi S. (Proc. Natl. Acad. Sci. U.S.A. 1999) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations. (PMID: 16953426) Beaty T.H. … Scott A.F. (Hum. Genet. 2006) 3 48
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 48
  5. Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PMID: 21697133) Oshikawa M. … Kato S. (Invest. Ophthalmol. Vis. Sci. 2011) 3

Products for VAX2 Gene

Sources for VAX2 Gene

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