VAX1

Ventral anterior homeobox 1 is a protein that in humans is encoded by the VAX1 gene.^[5][6][7]

VAX1
Identifiers
Aliases	VAX1, MCOPS11, ventral anterior homeobox 1
External IDs	OMIM: 604294; MGI: 1277163; HomoloGene: 7593; GeneCards: VAX1; OMA:VAX1 - orthologs
Gene location (Human) Chr. Chromosome 10 (human)[1] Band 10q25.3 Start 117,128,521 bp[1] End 117,138,301 bp[1]
Gene location (Mouse) Chr. Chromosome 19 (mouse)[2] Band 19 D3|19 54.61 cM Start 59,154,619 bp[2] End 59,158,488 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle caudate nucleus nucleus accumbens putamen prefrontal cortex gonad hypothalamus Brodmann area 9 anterior cingulate cortex superior frontal gyrus Top expressed in Rostral migratory stream medial ganglionic eminence suprachiasmatic nucleus optic stalk nasal placode embryo lumbar subsegment of spinal cord paraventricular nucleus of hypothalamus optic chiasm embryo More reference expression data BioGPS n/a
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding sequence-specific DNA binding chromatin DNA binding DNA-binding transcription repressor activity, RNA polymerase II-specific RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process axon guidance skeletal muscle cell differentiation multicellular organism development roof of mouth development camera-type eye development central nervous system development cell differentiation brain development neuron migration negative regulation of transcription by RNA polymerase II regulation of transcription, DNA-templated transcription, DNA-templated nervous system development negative regulation of neuroblast proliferation Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 11023 22326 Ensembl ENSG00000148704 ENSMUSG00000006270 UniProt Q5SQQ9 Q2NKI2 RefSeq (mRNA) NM_199131 NM_001112704 NM_009501 RefSeq (protein) NP_001106175 NP_954582 NP_033527 Location (UCSC) Chr 10: 117.13 – 117.14 Mb Chr 19: 59.15 – 59.16 Mb PubMed search [3] [4]
Wikidata
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Function

This gene appears to influence the development in humans of the forebrain. It is also present in mice and xenopus frogs, which suggests a long evolutionary history, and in those organisms its expression is confined to the forebrain, optic and olfactory areas.^[8]

VAX1 gene is a transcription factor that has a homeodomain located in the 100-159 amino acid position and an Ala–rich region located in 216-253 amino acid position of the gene. Expression studies in mice show that it is expressed in the palate, coloboma in the visual system, and the basal telencephalon, optic stalk, and visual eye fields where it is expressed along with the Shh and Bmp4 genes.^[8][9][10]

Clinical significance

Mice with homozygous VAX1 mutations have been reported to display craniofacial malformations including cleft palate.^[11]

Genome Wide Association Studies (GWAS) reported significant associations between non-syndromic clefts and SNPs in the VAX1 gene.^[12][13] Replication studies have confirmed these associations in different population groups^[14][15]