ENSG00000112319


Homo sapiens

Features
Gene ID: ENSG00000112319
  
Biological name :EYA4
  
Synonyms : EYA4 / EYA transcriptional coactivator and phosphatase 4 / O95677
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q23.2
Gene start: 133240598
Gene end: 133532120
  
Corresponding Affymetrix probe sets: 1561088_at (Human Genome U133 Plus 2.0 Array)   207327_at (Human Genome U133 Plus 2.0 Array)   238877_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000388670
Ensembl peptide - ENSP00000356870
Ensembl peptide - ENSP00000395916
Ensembl peptide - ENSP00000433219
Ensembl peptide - ENSP00000432770
Ensembl peptide - ENSP00000404558
Ensembl peptide - ENSP00000347294
Ensembl peptide - ENSP00000347434
NCBI entrez gene - 2070     See in Manteia.
OMIM - 603550
RefSeq - XM_017010375
RefSeq - NM_172103
RefSeq - NM_172105
RefSeq - XM_005266851
RefSeq - XM_005266853
RefSeq - XM_017010368
RefSeq - XM_017010369
RefSeq - XM_017010370
RefSeq - XM_017010371
RefSeq - XM_017010372
RefSeq - XM_017010373
RefSeq - XM_017010374
RefSeq - NM_001301012
RefSeq - NM_001301013
RefSeq - NM_004100
RefSeq Peptide - NP_001287942
RefSeq Peptide - NP_004091
RefSeq Peptide - NP_742101
RefSeq Peptide - NP_742103
RefSeq Peptide - NP_001287941
swissprot - A0A0S2Z3Q2
swissprot - E9PLN6
swissprot - E7ESD5
swissprot - A0A0S2Z3V9
swissprot - F2Z2Y1
swissprot - O95677
Ensembl - ENSG00000112319
  
Related genetic diseases (OMIM): 601316 - Deafness, autosomal dominant 10, 601316
  605362 - ?Cardiomyopathy, dilated, 1J, 605362
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
 eya4ENSDARG00000012397Danio rerio
 EYA4ENSGALG00000031656Gallus gallus
 Eya4ENSMUSG00000010461Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
EYA1 / Q99502 / EYA transcriptional coactivator and phosphatase 1ENSG0000010431367
EYA2 / O00167 / EYA transcriptional coactivator and phosphatase 2ENSG0000006465549
EYA3 / Q99504 / EYA transcriptional coactivator and phosphatase 3ENSG0000015816136


Protein motifs (from Interpro)
Interpro ID Name
 IPR006545  EYA domain
 IPR028472  Eyes absent family
 IPR028478  Eyes absent homologue 4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006325 chromatin organization IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006470 protein dephosphorylation IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007601 visual perception TAS
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0009653 anatomical structure morphogenesis TAS
 biological_processGO:0016576 histone dephosphorylation IBA
 biological_processGO:0030154 cell differentiation IBA
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0045739 positive regulation of DNA repair IBA
 biological_processGO:0048839 inner ear development IEA
 biological_processGO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0004721 phosphoprotein phosphatase activity IEA
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IBA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008134 transcription factor binding IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks


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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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0001635 Congestive heart failure "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators]
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001645 Sudden cardiac death 
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 HP:0030872 Abnormal cardiac ventricular function "An abnormality of the cardiac ventricular function." [NIHR:ldaugherty]
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 HP:0040268 Recurrent infections of the middle ear 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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