EYA4 (EYA transcriptional coactivator and phosphatase 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2070
Gene name Gene Name - the full gene name approved by the HGNC.
EYA transcriptional coactivator and phosphatase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EYA4
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1J, DFNA10
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mat
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs41286200 C>T Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity Non coding transcript variant, coding sequence variant, missense variant
rs143936434 G>A Uncertain-significance, likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs876657644 A>C Likely-pathogenic Splice acceptor variant
rs878853223 C>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs1554260888 A>- Pathogenic Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
miRTarBase ID miRNA Experiments Reference
MIRT002568 hsa-miR-124-3p Microarray 15685193
MIRT005750 hsa-miR-203a-3p Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 20827281
MIRT005754 hsa-miR-27b-3p Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 20827281
MIRT005755 hsa-miR-224-5p Immunofluorescence, In situ hybridization, Luciferase reporter assay, Northern blot, qRT-PCR, Western blot 20827281
MIRT019463 hsa-miR-148b-3p Microarray 17612493
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0004721 Function Phosphoprotein phosphatase activity IEA
GO:0004725 Function Protein tyrosine phosphatase activity IBA
GO:0004725 Function Protein tyrosine phosphatase activity IEA
GO:0005515 Function Protein binding IPI 19606496
GO:0005634 Component Nucleus IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603550 3522 ENSG00000112319
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O95677
Protein name Protein phosphatase EYA4 (EC 3.1.3.48) (Eyes absent homolog 4)
Protein function Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair respo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00702 Hydrolase 369 → 615 Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart and skeletal muscle. {ECO:0000269|PubMed:15735644}.
Sequence 
MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSS
TSVTTNGTGGENMTVLNTADWLLSCNTPSSATMSLLAVKTEPLNSSETTATTGDGALDTF
TGSVITSSGYSPRSAHQYSPQLYPSKPYPHILSTPAAQTMSAYAGQTQYSGMQQPAVYTA
YSQTGQPYSLPTYDLGVMLPAIKTESGLSQTQSPLQSGCLSYSPGFSTPQPGQTPYSYQM
PGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTA
DGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNP
SPPPDSDLERVFVWDLDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTH
LFFNDLEECDQVHIDDVSSDDNGQDLSTYSFATDGFHAAASSANLCLPTGVRGGVDWMRK
LAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSWLTNALKSLSIISTRS
NCINVLVTTTQLIPALAKVLLYSLGGAFPIENIYSATKIGKESCFERIMQRFGRKVVYVV
IGDGVEEEQAAKKHNMPFWRISSHSDLLALHQALELEYL
Sequence length 639
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal dominant nonsyndromic hearing loss 10 rs1562505728, rs2128781753, rs878853223, rs1554275988 N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1J rs1562498114, rs797045088, rs1276849351, rs1554275988 N/A
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Cardiomyopathy left ventricular noncompaction cardiomyopathy N/A N/A ClinVar
hearing impairment Hearing impairment N/A N/A ClinVar
Hypertrophic Cardiomyopathy Primary familial hypertrophic cardiomyopathy N/A N/A ClinVar
Show/Hide Text Mining Associations (34)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma in Situ Associate 21731750
Adenocarcinoma of Lung Associate 28380439
Age Related Hearing Impairment 1 Associate 27764096
Arrhythmogenic Right Ventricular Dysplasia Associate 28767663
Breast Neoplasms Associate 35607307, 37777742
Carcinoma Hepatocellular Inhibit 31385398
Carcinoma Non Small Cell Lung Associate 24096489
Carcinoma Renal Cell Associate 37156847
Cardiovascular Abnormalities Associate 33301229
Chromosome Aberrations Associate 35578334