ENSG00000196767


Homo sapiens

Features
Gene ID: ENSG00000196767
  
Biological name :POU3F4
  
Synonyms : P49335 / POU3F4 / POU class 3 homeobox 4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q21.1
Gene start: 83508261
Gene end: 83512127
  
Corresponding Affymetrix probe sets: 207694_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495996
Ensembl peptide - ENSP00000362296
NCBI entrez gene - 5456     See in Manteia.
OMIM - 300039
RefSeq - NM_000307
RefSeq Peptide - NP_000298
swissprot - P49335
Ensembl - ENSG00000196767
  
Related genetic diseases (OMIM): 304400 - Deafness, X-linked 2, 304400

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
 POU3F4ENSGALG00000029329Gallus gallus
 P62515ENSMUSG00000056854Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P20264 / POU3F3 / POU class 3 homeobox 3ENSG0000019891468
P20265 / POU3F2 / POU class 3 homeobox 2ENSG0000018448662
POU3F1 / Q03052 / POU class 3 homeobox 1ENSG0000018566853
P09086 / POU2F2 / POU class 2 homeobox 2ENSG0000002827738
P14859 / POU2F1 / POU class 2 homeobox 1ENSG0000014319038
POU2F3 / Q9UKI9 / POU class 2 homeobox 3ENSG0000013770937
POU5F1 / Q01860 / POU class 5 homeobox 1ENSG0000020453135
Q06416 / POU5F1B / POU class 5 homeobox 1BENSG0000021299334
P28069 / POU1F1 / POU class 1 homeobox 1ENSG0000006483530
POU4F2 / Q12837 / POU class 4 homeobox 2ENSG0000015161529
POU4F3 / Q15319 / POU class 4 homeobox 3ENSG0000009101029
POU4F1 / Q01851 / POU class 4 homeobox 1ENSG0000015219228
POU5F2 / Q8N7G0 / POU domain class 5, transcription factor 2ENSG0000024848325


Protein motifs (from Interpro)
Interpro ID Name
 IPR000327  POU-specific domain
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR010982  Lambda repressor-like, DNA-binding domain superfamily
 IPR013847  POU domain
 IPR016362  POU-domain transcription factor, class 3
 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:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007420 brain development IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0021879 forebrain neuron differentiation IEA
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:0090103 cochlea morphogenesis IEA
 biological_processGO:2001054 negative regulation of mesenchymal cell apoptotic process IEA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003680 AT DNA binding IEA
 molecular_functionGO:0003690 double-stranded DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 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:0000381 Stapes ankylosis 
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 HP:0000405 Hearing loss, conductive 
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 HP:0000408 Hearing loss, sensorineural, progressive 
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0004458 bulbous internal auditory canal 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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