VAX1 - ventral anterior homeobox 1 Gene

Also Known as MCOPS11

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 11023

About VAX1

Cytogenetic location: 10q25.3 Genomic coordinates (GRCh38): 10:117,128,520-117,138,270 (from NCBI)

This gene has 2 transcripts (splice variants), 185 orthologues, 3 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

Summary

This gene encodes a homeo-domain containing protein from a class of homeobox transcription factors which are conserved in vertebrates. Genes of this family are involved in the regulation of body development and morphogenesis. The most conserved genes, called HOX genes are found in special gene clusters. This gene belongs to the VAX subfamily and lies in the vicinity of the EMX homeobox gene family. Another member of VAX family is located on chromosome 2. The encoded protein may play an important role in the development of anterior ventral forebrain and visual system. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

VAX1 Products (2)

mRNA	Protein	Name
NM_001112704.2	NP_001106175.1	ventral anterior homeobox 1 isoform a
NM_199131.3	NP_954582.1	ventral anterior homeobox 1 isoform b

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

VAX1 Protein Structure

Homeobox

0
100
200
300
334 a.a.

Protein Preferred Names	Protein Names
ventral anterior homeobox 1

Related Diseases

Diseases	Alias
Microphthalmia, Syndromic 11	MCOPS11 Syndromic Microphthalmia 11 Microphthalmia, Syndromic, 11 Microphthalmia With Corpus Callosum Agenesis And Orofacial Clefting Microphthalmia, Syndromic, Type 11
Colobomatous Microphthalmia	Anophthalmia-Microphthalmia Syndrome Mac Microphthalmia With Colobomatous Cyst Microphthalmia-Anophthalmia-Coloboma Syndrome Microphthalmia-Anophthalmia-Coloboma Microphthalmia And Mental Deficiency
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Temtamy Syndrome	TEMTYS Craniofacial Dysmorphism With Ocular Coloboma Absent Corpus Callosum And Aortic Dilatation Craniofacial Dysmorphism-Coloboma-Corpus Callosum Agenesis Syndrome Dysmorphism, Corpus Callosum Agenesis And Colobomas Temtamy-Shalash Syndrome Mental Retardation With Or Without Craniofacial Dysmorphism, Ocular Coloboma, Or Abnormal Corpus Callosum
Retinitis Pigmentosa 58	RP58 Retinitis Pigmentosa, Type 58
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate	Bamforth-Lazarus Syndrome Bamforth Syndrome Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome Hypothyroidism-Cleft Palate Syndrome BLS Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate
Retinitis Pigmentosa 10	RP10 Retinitis Pigmentosa-10 Retinitis Pigmentosa, Type 10
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	BBSOAS Optic Atrophy-Intellectual Disability Syndrome
Orofacial Cleft 5	OFC5 Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 5 Nonsyndromic Cleft Lip With Or Without Cleft Palate 5 Non-Syndromic Orofacial Cleft 5 Non-Syndromic Cleft Lip/Palate 5 Non-Syndromic Cleft Lip With Or Without Cleft Palate 5 Orofacial Cleft, Type 5
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
Branchiooculofacial Syndrome	Branchio-Oculo-Facial Syndrome BOFS Bof Syndrome Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome Branchial Clefts With Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, And Premature Aging Branchial Clefts With Characteristic Facies Growth Retardation Imperforate Nasolacrimal Duct And Premature Aging Bofs Syndrome Lip Pseudocleft-Hemagiomatous Branchial Cyst Syndrome
Orofacial Cleft	Cleft, Orofacial
Popliteal Pterygium Syndrome	PPS Faciogenitopopliteal Syndrome Facio-Genito-Popliteal Syndrome Popliteal Web Syndrome Autosomal Dominant Popliteal Pterygium Syndrome Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies Popliteal Pterygium Syndrome 1 Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies Popliteal Pterygium
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia ANKG 'Tongue-Tie' Tongue-Tie Tongue Tie Aberrant Insertion Of Labial Frenulum Aberrant Insertion Of Frenum Of Tongue Short Frenulum Linguae Short Frenulum Of Tongue
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
Cleft Soft Palate	Cleft Velum Cleft Velum Palatinum Soft Cleft Palate Soft Palate Perforation
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth

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-RS15615	VAX1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	VAX1	VGNC	VGNC:48238
Mus musculus	VAX1	MGD	MGI:1277163
Rattus norvegicus	VAX1	RGD	RGD:621132
Bos taurus	VAX1	VGNC	VGNC:36775
Macaca mulatta	VAX1	VGNC	VGNC:106117