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Aliases for EYA4 Gene

Aliases for EYA4 Gene

  • EYA Transcriptional Coactivator And Phosphatase 4 2 3
  • EC 3.1.3.48 4 63
  • Eyes Absent (Drosophila) Homolog 4 2
  • Eyes Absent Homolog 4 (Drosophila) 2
  • DJ78N10.1 (Eyes Absent) 3
  • DFNA10 3
  • CMD1J 3

External Ids for EYA4 Gene

Previous HGNC Symbols for EYA4 Gene

  • DFNA10
  • CMD1J

Previous GeneCards Identifiers for EYA4 Gene

  • GC06P133409
  • GC06P133543
  • GC06P133604
  • GC06P133563
  • GC06P131131

Summaries for EYA4 Gene

Entrez Gene Summary for EYA4 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 mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

GeneCards Summary for EYA4 Gene

EYA4 (EYA Transcriptional Coactivator And Phosphatase 4) is a Protein Coding gene. Diseases associated with EYA4 include sensorineural deafness with dilated cardiomyopathy and autosomal dominant non-syndromic sensorineural deafness type dfna. Among its related pathways are DNA Double-Strand Break Repair and G2/M DNA damage checkpoint. GO annotations related to this gene include protein tyrosine phosphatase activity. An important paralog of this gene is EYA1.

UniProtKB/Swiss-Prot for EYA4 Gene

  • 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 responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity).

Gene Wiki entry for EYA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EYA4 Gene

Genomics for EYA4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EYA4 Gene

Chromosome:
6
Start:
133,240,598 bp from pter
End:
133,532,120 bp from pter
Size:
291,523 bases
Orientation:
Plus strand

Genomic View for EYA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EYA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EYA4 Gene

Proteins for EYA4 Gene

  • Protein details for EYA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95677-EYA4_HUMAN
    Recommended name:
    Eyes absent homolog 4
    Protein Accession:
    O95677
    Secondary Accessions:
    • B7Z7F7
    • O95464
    • O95679
    • Q8IW39
    • Q9NTR7

    Protein attributes for EYA4 Gene

    Size:
    639 amino acids
    Molecular mass:
    69505 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 1 Mg(2+) ion per subunit.;
    Quaternary structure:
    • Interacts with SIX3; translocates EYA4 from the cytoplasm to the nucleus and promotes activation of their target genes.

    Alternative splice isoforms for EYA4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EYA4 Gene

Proteomics data for EYA4 Gene at MOPED

Post-translational modifications for EYA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains & Families for EYA4 Gene

Gene Families for EYA4 Gene

Protein Domains for EYA4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O95677

UniProtKB/Swiss-Prot:

EYA4_HUMAN :
  • Belongs to the HAD-like hydrolase superfamily. EYA family.
Family:
  • Belongs to the HAD-like hydrolase superfamily. EYA family.
genes like me logo Genes that share domains with EYA4: view

Function for EYA4 Gene

Molecular function for EYA4 Gene

GENATLAS Biochemistry:
Drosophila eye absent gene 4 (eya),primarily expressed in the craniofacial mesenchyme,the dermamyotome and the limb,not involved in ODD1
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
UniProtKB/Swiss-Prot 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 responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye (By similarity).

Enzyme Numbers (IUBMB) for EYA4 Gene

Gene Ontology (GO) - Molecular Function for EYA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 19606496
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EYA4: view
genes like me logo Genes that share phenotypes with EYA4: view

Animal Models for EYA4 Gene

MGI Knock Outs for EYA4:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EYA4

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EYA4 Gene

Localization for EYA4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EYA4 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EYA4 Gene COMPARTMENTS Subcellular localization image for EYA4 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for EYA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with EYA4: view

Pathways & Interactions for EYA4 Gene

genes like me logo Genes that share pathways with EYA4: view

Gene Ontology (GO) - Biological Process for EYA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organismal development IEA --
GO:0007601 visual perception TAS 9887327
genes like me logo Genes that share ontologies with EYA4: view

No data available for SIGNOR curated interactions for EYA4 Gene

Drugs & Compounds for EYA4 Gene

(1) Drugs for EYA4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Nutra 0

(2) Additional Compounds for EYA4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
genes like me logo Genes that share compounds with EYA4: view

Transcripts for EYA4 Gene

Unigene Clusters for EYA4 Gene

Eyes absent homolog 4 (Drosophila):
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EYA4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EYA4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - - -
SP2: - - - - -
SP3:
SP4:
SP5:

Relevant External Links for EYA4 Gene

GeneLoc Exon Structure for
EYA4
ECgene alternative splicing isoforms for
EYA4

Expression for EYA4 Gene

mRNA expression in normal human tissues for EYA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EYA4 Gene

This gene is overexpressed in Muscle - Skeletal (x19.7), Heart - Left Ventricle (x4.9), and Heart - Atrial Appendage (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EYA4 Gene



SOURCE GeneReport for Unigene cluster for EYA4 Gene Hs.596680

mRNA Expression by UniProt/SwissProt for EYA4 Gene

O95677-EYA4_HUMAN
Tissue specificity: Highly expressed in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with EYA4: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for EYA4 Gene

Orthologs for EYA4 Gene

This gene was present in the common ancestor of animals.

Orthologs for EYA4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EYA4 35
  • 92.33 (n)
  • 96.09 (a)
EYA4 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EYA4 35
  • 92.02 (n)
  • 95.56 (a)
EYA4 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eya4 35
  • 89.07 (n)
  • 94.64 (a)
Eya4 16
Eya4 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EYA4 35
  • 98.12 (n)
  • 97.97 (a)
EYA4 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eya4 35
  • 90.69 (n)
  • 96.75 (a)
oppossum
(Monodelphis domestica)
Mammalia EYA4 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EYA4 36
  • 95 (a)
OneToOne
chicken
(Gallus gallus)
Aves EYA4 35
  • 87.12 (n)
  • 93.74 (a)
EYA4 36
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EYA4 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eya4 35
  • 80.59 (n)
  • 86.54 (a)
zebrafish
(Danio rerio)
Actinopterygii eya4 36
  • 76 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta eya 37
  • 64 (a)
eya 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea eya-1 36
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8681 36
  • 64 (a)
OneToMany
Species with no ortholog for EYA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EYA4 Gene

ENSEMBL:
Gene Tree for EYA4 (if available)
TreeFam:
Gene Tree for EYA4 (if available)

Paralogs for EYA4 Gene

Paralogs for EYA4 Gene

(4) SIMAP similar genes for EYA4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EYA4: view

Variants for EYA4 Gene

Sequence variations from dbSNP and Humsavar for EYA4 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs120490 -- 133,396,965(-) ATCTT(C/T)CTCTG intron-variant
rs126403 -- 133,440,558(-) ATACT(A/G)TCATA intron-variant
rs150462 -- 133,425,510(-) TGAGT(G/T)ATTTA intron-variant
rs150531 -- 133,383,326(-) tattg(G/T)ccagg intron-variant
rs150532 -- 133,383,181(-) ATAAA(A/C)CGAGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EYA4 Gene

Variant ID Type Subtype PubMed ID
dgv2009e1 CNV Complex 17122850
nsv470862 CNV Loss 18288195
nsv886678 CNV Loss 21882294
nsv5483 CNV Loss 18451855
nsv886679 CNV Loss 21882294
esv2668674 CNV Deletion 23128226
nsv886680 CNV Loss 21882294
nsv521665 CNV Loss 19592680
nsv5484 CNV Insertion 18451855
nsv5485 CNV Insertion 18451855
esv2660548 CNV Deletion 23128226
nsv525971 CNV Loss 19592680
esv268823 CNV Insertion 20981092
esv273095 CNV Insertion 20981092
nsv819864 CNV Loss 19587683
esv2732720 CNV Deletion 23290073
esv2666193 CNV Deletion 23128226
esv28257 CNV Loss 19812545
nsv823843 CNV Loss 20364138
nsv886681 CNV Loss 21882294

Variation tolerance for EYA4 Gene

Residual Variation Intolerance Score: 19.53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.83; 95.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EYA4 Gene

HapMap Linkage Disequilibrium report
EYA4
Human Gene Mutation Database (HGMD)
EYA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EYA4 Gene

Disorders for EYA4 Gene

MalaCards: The human disease database

(12) MalaCards diseases for EYA4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
sensorineural deafness with dilated cardiomyopathy
  • neurosensory deafness with dilated cardiomyopathy
autosomal dominant non-syndromic sensorineural deafness type dfna
  • autosomal dominant isolated neurosensory deafness type dfna
dfna10 nonsyndromic hearing loss and deafness
  • dfna 10 nonsyndromic hearing loss and deafness
eya4-related dilated cardiomyopathy
  • cardiomyopathy, dilated, 1j
cardiomyopathy, dilated, 1j
  • cmd1j
- elite association
Search EYA4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EYA4_HUMAN
  • Cardiomyopathy, dilated 1J (CMD1J) [MIM:605362]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. {ECO:0000269 PubMed:15735644}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:11159937}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EYA4

Genetic Association Database (GAD)
EYA4
Human Genome Epidemiology (HuGE) Navigator
EYA4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EYA4
genes like me logo Genes that share disorders with EYA4: view

No data available for Genatlas for EYA4 Gene

Publications for EYA4 Gene

  1. EYA4, a novel vertebrate gene related to Drosophila eyes absent. (PMID: 9887327) Borsani G. … Hanson I. (Hum. Mol. Genet. 1999) 2 23 67
  2. Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis. (PMID: 19901965) Miller S.J. … Ratner N. (Oncogene 2010) 23 67
  3. De novo 9 Mb deletion of 6q23.2q24.1 disrupting the gene EYA4 in a patient with sensorineural hearing loss, cardiac malformation, and mental retardation. (PMID: 19576303) Dutrannoy V. … Trimborn M. (Eur J Med Genet 2009) 23 67
  4. A novel splice site mutation in EYA4 causes DFNA10 hearing loss. (PMID: 17568404) Hildebrand M.S. … Dahl H.H. (Am. J. Med. Genet. A 2007) 23 67
  5. The zebrafish dog-eared mutation disrupts eya1, a gene required for cell survival and differentiation in the inner ear and lateral line. (PMID: 15572137) Kozlowski D.J. … Weinberg E.S. (Dev. Biol. 2005) 23 67

Products for EYA4 Gene

Sources for EYA4 Gene

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