ENSG00000091010


Homo sapiens

Features
Gene ID: ENSG00000091010
  
Biological name :POU4F3
  
Synonyms : POU4F3 / POU class 4 homeobox 3 / Q15319
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q32
Gene start: 146338839
Gene end: 146341722
  
Corresponding Affymetrix probe sets: 208554_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495718
Ensembl peptide - ENSP00000230732
NCBI entrez gene - 5459     See in Manteia.
OMIM - 602460
RefSeq - NM_002700
RefSeq Peptide - NP_002691
swissprot - Q15319
Ensembl - ENSG00000091010
  
Related genetic diseases (OMIM): 602459 - Deafness, autosomal dominant 15, 602459

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
 pou4f3ENSDARG00000006206Danio rerio
 POU4F3ENSGALG00000043334Gallus gallus
 Pou4f3ENSMUSG00000024497Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
POU4F1 / Q01851 / POU class 4 homeobox 1ENSG0000015219273
POU4F2 / Q12837 / POU class 4 homeobox 2ENSG0000015161573
P20264 / POU3F3 / POU class 3 homeobox 3ENSG0000019891431
P49335 / POU3F4 / POU class 3 homeobox 4ENSG0000019676731
P09086 / POU2F2 / POU class 2 homeobox 2ENSG0000002827729
P20265 / POU3F2 / POU class 3 homeobox 2ENSG0000018448629
POU2F3 / Q9UKI9 / POU class 2 homeobox 3ENSG0000013770929
P28069 / POU1F1 / POU class 1 homeobox 1ENSG0000006483528
Q06416 / POU5F1B / POU class 5 homeobox 1BENSG0000021299328
POU3F1 / Q03052 / POU class 3 homeobox 1ENSG0000018566828
POU5F1 / Q01860 / POU class 5 homeobox 1ENSG0000020453128
P14859 / POU2F1 / POU class 2 homeobox 1ENSG0000014319028
POU5F2 / Q8N7G0 / POU domain class 5, transcription factor 2ENSG0000024848322


Protein motifs (from Interpro)
Interpro ID Name
 IPR000327  POU-specific domain
 IPR001356  Homeobox domain
 IPR001387  Cro/C1-type helix-turn-helix domain
 IPR009057  Homeobox-like domain superfamily
 IPR010982  Lambda repressor-like, DNA-binding domain superfamily
 IPR013847  POU domain
 IPR017970  Homeobox, conserved site
 IPR032961  POU domain, class 4, transcription factor 3


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 IDA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0007605 sensory perception of sound TAS
 biological_processGO:0021562 vestibulocochlear nerve development IMP
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031290 retinal ganglion cell axon guidance IGI
 biological_processGO:0042472 inner ear morphogenesis IMP
 biological_processGO:0042491 inner ear auditory receptor cell differentiation IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0048675 axon extension IGI
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:0050885 neuromuscular process controlling balance IMP
 biological_processGO:0051402 neuron apoptotic process IMP
 biological_processGO:0060113 inner ear receptor cell differentiation IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005737 cytoplasm 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:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 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:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000365 Hearing loss 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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