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EYA3 (EYA transcriptional coactivator and phosphatase 3)

Identity

Alias (NCBI)-
HGNC (Hugo) EYA3
HGNC Alias symbDKFZp686C132
HGNC Previous nameeyes absent (Drosophila) homolog 3
 eyes absent homolog 3 (Drosophila)
LocusID (NCBI) 2140
Atlas_Id 50951
Location 1p35.3  [Link to chromosome band 1p35]
Location_base_pair Starts at 27970344 and ends at 28088610 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EYA3 (1p35.3)::POP4 (19q12)EYA3 (1p35.3)::SUSD6 (14q24.1)MECOM (3q26.2)::EYA3 (1p35.3)
EYA3 1p35.3 KIAA0247EYA3 1p35.3::POP4 19q12

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(6;9)(p22;q34) DEK::NUP214 in Childhood
t(9;13)(p12;q21) PAX5::DACH1


External links

 

Nomenclature
HGNC (Hugo)EYA3   3521
Cards
Entrez_Gene (NCBI)EYA3    EYA transcriptional coactivator and phosphatase 3
Aliases
GeneCards (Weizmann)EYA3
Ensembl hg19 (Hinxton)ENSG00000158161 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158161 [Gene_View]  ENSG00000158161 [Sequence]  chr1:27970344-28088610 [Contig_View]  EYA3 [Vega]
ICGC DataPortalENSG00000158161
TCGA cBioPortalEYA3
AceView (NCBI)EYA3
Genatlas (Paris)EYA3
SOURCE (Princeton)EYA3
Genetics Home Reference (NIH)EYA3
Genomic and cartography
GoldenPath hg38 (UCSC)EYA3  -     chr1:27970344-28088610 -  1p35.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EYA3  -     1p35.3   [Description]    (hg19-Feb_2009)
GoldenPathEYA3 - 1p35.3 [CytoView hg19]  EYA3 - 1p35.3 [CytoView hg38]
ImmunoBaseENSG00000158161
Genome Data Viewer NCBIEYA3 [Mapview hg19]  
OMIM601655   
Gene and transcription
Genbank (Entrez)AJ007991 AK289805 AK295745 AK298129 AK303664
RefSeq transcript (Entrez)NM_001282560 NM_001282561 NM_001282562 NM_001990 NM_172098
Consensus coding sequences : CCDS (NCBI)EYA3
Gene ExpressionEYA3 [ NCBI-GEO ]   EYA3 [ EBI - ARRAY_EXPRESS ]   EYA3 [ SEEK ]   EYA3 [ MEM ]
Gene Expression Viewer (FireBrowse)EYA3 [ Firebrowse - Broad ]
GenevisibleExpression of EYA3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2140
GTEX Portal (Tissue expression)EYA3
Human Protein AtlasENSG00000158161-EYA3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99504   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99504  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99504
PhosPhoSitePlusQ99504
Domains : Interpro (EBI)EYA3    EYA_dom    EYA_dom_metazoan    EYA_dom_sf    EYA_fam   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EYA3
SuperfamilyQ99504
AlphaFold pdb e-kbQ99504   
Human Protein Atlas [tissue]ENSG00000158161-EYA3 [tissue]
HPRD09042
Protein Interaction databases
DIP (DOE-UCLA)Q99504
IntAct (EBI)Q99504
BioGRIDEYA3
STRING (EMBL)EYA3
ZODIACEYA3
Ontologies - Pathways
QuickGOQ99504
Ontology : AmiGOprotein tyrosine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  cytoplasm  centrosome  double-strand break repair  double-strand break repair  multicellular organism development  visual perception  anatomical structure morphogenesis  response to ionizing radiation  histone dephosphorylation  histone dephosphorylation  cell differentiation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  positive regulation of DNA repair  metal ion binding  anatomical structure development  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
Ontology : EGO-EBIprotein tyrosine phosphatase activity  protein tyrosine phosphatase activity  protein binding  nucleus  nucleus  nucleoplasm  nucleoplasm  transcription regulator complex  cytoplasm  centrosome  double-strand break repair  double-strand break repair  multicellular organism development  visual perception  anatomical structure morphogenesis  response to ionizing radiation  histone dephosphorylation  histone dephosphorylation  cell differentiation  peptidyl-tyrosine dephosphorylation  positive regulation of DNA repair  positive regulation of DNA repair  metal ion binding  anatomical structure development  negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
NDEx NetworkEYA3
Atlas of Cancer Signalling NetworkEYA3
Wikipedia pathwaysEYA3
Orthology - Evolution
OrthoDB2140
GeneTree (enSembl)ENSG00000158161
Phylogenetic Trees/Animal Genes : TreeFamEYA3
Homologs : HomoloGeneEYA3
Homology/Alignments : Family Browser (UCSC)EYA3
Gene fusions - Rearrangements
Fusion : MitelmanEYA3::POP4 [1p35.3/19q12]  
Fusion : MitelmanEYA3::SUSD6 [1p35.3/14q24.1]  
Fusion : QuiverEYA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEYA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EYA3
dbVarEYA3
ClinVarEYA3
MonarchEYA3
1000_GenomesEYA3 
Exome Variant ServerEYA3
GNOMAD BrowserENSG00000158161
Varsome BrowserEYA3
ACMGEYA3 variants
VarityQ99504
Genomic Variants (DGV)EYA3 [DGVbeta]
DECIPHEREYA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEYA3 
Mutations
ICGC Data PortalEYA3 
TCGA Data PortalEYA3 
Broad Tumor PortalEYA3
OASIS PortalEYA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEYA3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DEYA3
Mutations and Diseases : HGMDEYA3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaEYA3
DgiDB (Drug Gene Interaction Database)EYA3
DoCM (Curated mutations)EYA3
CIViC (Clinical Interpretations of Variants in Cancer)EYA3
Cancer3DEYA3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601655   
Orphanet
DisGeNETEYA3
MedgenEYA3
Genetic Testing Registry EYA3
NextProtQ99504 [Medical]
GENETestsEYA3
Target ValidationEYA3
Huge Navigator EYA3 [HugePedia]
ClinGenEYA3
Clinical trials, drugs, therapy
MyCancerGenomeEYA3
Protein Interactions : CTDEYA3
Pharm GKB GenePA27933
PharosQ99504
Clinical trialEYA3
Miscellaneous
canSAR (ICR)EYA3
HarmonizomeEYA3
ARCHS4EYA3
DataMed IndexEYA3
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXEYA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:23:50 CET 2022

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