ENSG00000134438


Homo sapiens

Features
Gene ID: ENSG00000134438
  
Biological name :RAX
  
Synonyms : Q9Y2V3 / RAX / retina and anterior neural fold homeobox
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 18
Strand: -1
Band: q21.32
Gene start: 59267035
Gene end: 59274086
  
Corresponding Affymetrix probe sets: 208242_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000334813
Ensembl peptide - ENSP00000450583
Ensembl peptide - ENSP00000256852
NCBI entrez gene - 30062     See in Manteia.
OMIM - 601881
RefSeq - NM_013435
RefSeq Peptide - NP_038463
swissprot - G3V2C8
swissprot - Q9Y2V3
Ensembl - ENSG00000134438
  
Related genetic diseases (OMIM): 611038 - Microphthalmia, isolated 3, 611038

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
 rx3ENSDARG00000052893Danio rerio
 RAXENSGALG00000033279Gallus gallus
 RaxENSMUSG00000024518Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
RAX2 / Q96IS3 / retina and anterior neural fold homeobox 2ENSG0000017397631
ARX / Q96QS3 / aristaless related homeoboxENSG0000000484829
ALX4 / Q9H161 / ALX homeobox 4ENSG0000005285027
UNCX / A6NJT0 / UNC homeoboxENSG0000016485324
VSX2 / P58304 / visual system homeobox 2ENSG0000011961424
ALX3 / O95076 / ALX homeobox 3ENSG0000015615023
VSX1 / Q9NZR4 / visual system homeobox 1ENSG0000010098723
ISX / Q2M1V0 / intestine specific homeoboxENSG0000017532922
ALX1 / Q15699 / ALX homeobox 1ENSG0000018031822
DRGX / A6NNA5 / dorsal root ganglia homeoboxENSG0000016560621
O14813 / PHOX2A / paired like homeobox 2aENSG0000016546221
PHOX2B / Q99453 / paired like homeobox 2bENSG0000010913220


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007389 pattern specification process IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0021854 hypothalamus development IEA
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0060173 limb development IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 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:0000528 Anophthalmia "Absence of a true eyeball." [HPO:curators]
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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:0000647 Sclerocornea 
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 HP:0009755 Ankyloblepharon "Adhesion of the ciliary edges of the eyelids to each other." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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