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VAX2 - ventral anterior homeobox 2 Gene

Also Known as DRES93

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25806

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	References	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

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	References
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15616	VAX2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	VAX2	NCBI