ENSG00000119614


Homo sapiens

Features
Gene ID: ENSG00000119614
  
Biological name :VSX2
  
Synonyms : P58304 / visual system homeobox 2 / VSX2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q24.3
Gene start: 74239472
Gene end: 74262738
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSP00000261980
NCBI entrez gene - 338917     See in Manteia.
OMIM - 142993
RefSeq - NM_182894
RefSeq Peptide - NP_878314
swissprot - P58304
Ensembl - ENSG00000119614
  
Related genetic diseases (OMIM): 610092 - Microphthalmia with coloboma 3, 610092
  610093 - Microphthalmia, isolated 2, 610093

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 VSX2ENSGALG00000033517Gallus gallus
 Vsx2ENSMUSG00000021239Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
VSX1 / Q9NZR4 / visual system homeobox 1ENSG0000010098744
ARX / Q96QS3 / aristaless related homeoboxENSG0000000484824
RAX / Q9Y2V3 / retina and anterior neural fold homeoboxENSG0000013443823
ALX4 / Q9H161 / ALX homeobox 4ENSG0000005285023
UNCX / A6NJT0 / UNC homeoboxENSG0000016485321
ALX1 / Q15699 / ALX homeobox 1ENSG0000018031820
DRGX / A6NNA5 / dorsal root ganglia homeoboxENSG0000016560619
ALX3 / O95076 / ALX homeobox 3ENSG0000015615018
PHOX2B / Q99453 / paired like homeobox 2bENSG0000010913218
ISX / Q2M1V0 / intestine specific homeoboxENSG0000017532918
O14813 / PHOX2A / paired like homeobox 2aENSG0000016546218
RAX2 / Q96IS3 / retina and anterior neural fold homeobox 2ENSG0000017397617


Protein motifs (from Interpro)
Interpro ID Name
 IPR001356  Homeobox domain
 IPR003654  OAR domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR023339  CVC domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0050896 response to stimulus IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000518 Cataract "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [HPO:probinson]
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 HP:0000568 Microphthalmos "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators]
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 HP:0000589 Coloboma "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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