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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

Previous GeneCards Identifiers for VAX2 Gene

  • GC02P071137
  • GC02P071338
  • GC02P071085
  • GC02P071102
  • GC02P071039
  • GC02P070981
  • GC02P071127
  • GC02P070864

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. Diseases associated with VAX2 include astigmatism. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for VAX2 Gene

Chromosome:
2
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 & Families for VAX2 Gene

Gene Families for VAX2 Gene

Suggested Antigen Peptide Sequences for VAX2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UIW0

UniProtKB/Swiss-Prot:

VAX2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the EMX homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the EMX homeobox family.
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:0001162 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding IEA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 10485894
GO:0031490 chromatin 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:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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 3

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 & Interactions for VAX2 Gene

SuperPathways for VAX2 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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: Q9UIW0-VAX2_HUMAN ENSP00000234392 for VAX2 Gene via I2D STRING

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:0006355 regulation of transcription, DNA-templated --
GO:0007398 ectoderm development TAS 10485894
GO:0007409 axonogenesis IEA --
genes like me logo Genes that share ontologies with VAX2: view

No data available for Pathways by source and SIGNOR curated interactions for VAX2 Gene

Drugs & Compounds for VAX2 Gene

No Compound Related Data Available

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 (x9.0) and Brain - Cerebellum (x8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with VAX2: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia VAX2 35
  • 88.15 (n)
  • 86.97 (a)
VAX2 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vax2 35
  • 86.04 (n)
  • 88.24 (a)
Vax2 16
Vax2 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia VAX2 35
  • 99.2 (n)
  • 99.31 (a)
VAX2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Vax2 35
  • 84.89 (n)
  • 86.16 (a)
dog
(Canis familiaris)
Mammalia VAX2 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia VAX2 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia VAX2 36
  • 58 (a)
OneToOne
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

(2) 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
rs959053 -- 70,928,442(+) AGCCC(A/G)TATGT intron-variant, utr-variant-3-prime
rs959054 -- 70,928,722(+) ACTCC(C/T)CCACT intron-variant, utr-variant-3-prime
rs1981719 -- 70,932,118(+) TGCCA(C/T)GGTCC intron-variant
rs2234491 -- 70,900,025(+) CCTCC(A/G)GTCTG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv519862 CNV Gain 19592680

Variation tolerance for VAX2 Gene

Residual Variation Intolerance Score: 90.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.84; 79.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VAX2 Gene

HapMap Linkage Disequilibrium report
VAX2
Human Gene Mutation Database (HGMD)
VAX2

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

Disorders for VAX2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for VAX2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
astigmatism
- elite association
Search VAX2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for VAX2

Genetic Association Database (GAD)
VAX2
Human Genome Epidemiology (HuGE) Navigator
VAX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VAX2
genes like me logo Genes that share disorders with VAX2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 23 67
  2. The level of BMP4 signaling is critical for the regulation of distinct T-box gene expression domains and growth along the dorso-ventral axis of the optic cup. (PMID: 17173667) Behesti H. … Sowden J.C. (BMC Dev. Biol. 2006) 23 67
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67
  4. Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. (PMID: 24927181) Navarini A.A. … Barker J.N. (Nat Commun 2014) 67
  5. Identification of a candidate gene for astigmatism. (PMID: 23322567) Lopes M.C. … Hammond C.J. (Invest. Ophthalmol. Vis. Sci. 2013) 67

Products for VAX2 Gene

Sources for VAX2 Gene

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