1. Gene
  2. VAX2 - ventral anterior homeobox 2 Gene

VAX2 - ventral anterior homeobox 2 Gene

Homo sapiens

Also known as DRES93

Gene ID: 25806 | Gene type: protein coding

About VAX2

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,900,576-70,933,446 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and 3 paralogues. Low expression observed in reference dataset.

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]

VAX2 Products(1)

mRNA Protein Name
NM_012476.3 NP_036608.1 ventral anterior homeobox 2
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VAX2 Protein Structure

Homeobox

Homeobox: Homeobox domain (103 - 159)

  • 0
  • 100
  • 200
  • 290 a.a.
Protein Preferred Names Protein Names

ventral anterior homeobox 2

VAX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
VAX2 Q9UIW0 POU6F2 Homo sapiens P78424
Y2H Prey Pooling
32296183
Intra
VAX2 Q9UIW0 POU6F2 Homo sapiens P78424
Y2H Array
32296183
Intra
VAX2 Q9UIW0 UFSP1 Homo sapiens Q6NVU6
Y2H Array
32296183
Intra
VAX2 Q9UIW0 UFSP1 Homo sapiens Q6NVU6
Y2H Prey Pooling
32296183
Intra
VAX2 Q9UIW0 PFDN5 Homo sapiens Q99471
Y2H Prey Pooling
32296183
Intra
VAX2 Q9UIW0 PFDN5 Homo sapiens Q99471
Y2H Array
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Astigmatism
Valproate Embryopathy

Fetal Valproate Syndrome

Fetal Valproic Acid Syndrome

Fvs

Valproic Acid Embryopathy

Fetal Valproate Spectrum Disorder

Valproate Embryopathy, Susceptibility To

Foetal Valproate Syndrome

Foetal Valproic Acid Syndrome

Susceptibility To Valproate Embryopathy

Valproic Acid Antenatal Infection

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome

BBSOAS

Optic Atrophy-Intellectual Disability Syndrome

Robinow Syndrome, Autosomal Dominant 1

Autosomal Dominant Robinow Syndrome 1

DRS1

Robinow Dwarfism

Fetal Face Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Robinow, Autosomal Dominant Syndrome, Type 1

Cone Dystrophy

Retinal Cone Dystrophy

Dystrophy, Cone

Cone Dystrophy 3

Teebi Hypertelorism Syndrome 1

Teebi Hypertelorism Syndrome

Brachycephalofrontonasal Dysplasia

Hypertelorism, Teebi Type

TBHS1

Tbhs

Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype

Opitz Gbbb Syndrome Type Ii

Specc1l-Related Hypertelorism Syndrome

Opitz Gbbb Syndrome, Type Ii, Formerly

Gbbb2, Formerly

Opitz Bbbg Syndrome, Type Ii, Formerly

Bbbg2, Formerly

Opitz-G Syndrome, Type Ii, Formerly

Ogs2, Formerly

Opitz Bbb Syndrome, Type Ii, Formerly

Hypertelorism-Hypospadias Syndrome, Formerly

Hypertelorism With Esophageal Abnormality And Hypospadias, Formerly

Opitz Oculogenitolaryngeal Syndrome, Type Ii, Formerly

Opitz-Frias Syndrome, Formerly

Teebi Hypertelorism Syndrome-1

Craniofrontonasal Dysplasia, Teebi Type

Bbb Syndrome

Gbbb Syndrome

G Syndrome

Hypertelorism-Hypospadias Syndrome

Hypertelorism With Esophageal Abnormality And Hypospadias

Hypospadias-Dysphagia Syndrome

Ogs2

Opitz Bbbg Syndrome

Opitz-Frias Syndrome

Opitz Gbbb Syndrome, Autosomal Dominant

Opitz-G Syndrome, Type Ii

Opitz Oculogenitolaryngeal Syndrome, Type Ii

Opitz Gbbb Syndrome, Type Ii

Teebi Syndrome

Opitz-G Syndrome, Type 2

Opitz Gbbb Syndrome, X-Linked

Digeorge Syndrome

Spinal Muscular Atrophy, Type Iv

SMA4

Spinal Muscular Atrophy, Adult Form

Spinal Muscular Atrophy 4

Spinal Muscular Atrophy-4

Adult Spinal Muscular Atrophy

Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive

Proximal Spinal Muscular Atrophy Type 4

Sma Type 4

Sma Type Iv

Sma-Iv

Sma Iv

Spinal Muscular Atrophy Adult Form

Spinal Muscular Atrophy Proximal Adult Autosomal Recessive

Spinal Muscular Atrophy Type Iv

Atrophy, Muscular, Spinal, Type Iv

Myelopathic Muscular Atrophy

Coloboma Of Macula

Coloboma

Congenital Ocular Coloboma

Microphthalmia, Isolated, With Coloboma

Agenesis Of Macula

Hereditary Macular Coloboma

Ocular Coloboma

Coloboma Of Eye

Macular Coloboma

Uveoretinal Coloboma

Achromatopsia 7

ACHM7

Achromatopsia, Type 7

Retinitis Pigmentosa 12

RP12

Retinitis Pigmentosa With Or Without Paraarteriolar Preservation Of Retinal Pigment Epithelium

Rp With Or Without Preserved Paraarteriole Retinal Pigment Epithelium

Rp With Or Without Pprpe

Retinitis Pigmentosa-12

Tracheitis

Acute Tracheitis

Chronic Tracheitis

Bacterial Tracheitis

Acute Tracheitis Nos

Tracheitis Nos

Tracheal Inflammation

Septooptic Dysplasia

Septo-Optic Dysplasia

De Morsier Syndrome

Growth Hormone Deficiency With Pituitary Anomalies

SOD

Pituitary Hormone Deficiency, Combined, 5

Septo-Optic Dysplasia Spectrum

Septo-Optic Dysplasia With Growth Hormone Deficiency

Pituitary Hormone Deficiency, Combined 5

Hypopituitarism And Septooptic 'Dysplasia'

GHDPA

CPHD5

Dysplasia, Septo-Optic

Kallmann Syndrome

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus VAX2 VGNC VGNC:66928
Rattus norvegicus VAX2 RGD RGD:621133
Macaca mulatta VAX2 VGNC VGNC:78760
Canis familiaris VAX2 VGNC VGNC:54553
Bos taurus VAX2 VGNC VGNC:36776
Mus musculus VAX2 MGD MGI:1346018