• Gene id: 2070

Gene Summary

• Gene Symbol: EYA4   Gene   UCSC   Ensembl
• Aliases: CMD1J, DFNA10
• Gene name: EYA transcriptional coactivator and phosphatase 4
• Alternate names: eyes absent homolog 4, dJ78N10.1 (eyes absent), eyes absent-like protein 4,
• Gene location: 6q23.2 (133240339: 133532127)     Exons: 22     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 603550

Protein Summary

• Protein general information: O95677  
  • Name: Eyes absent homolog 4 (EC 3.1.3.48)
  • Length: 639  
  • Mass: 69505
  • Tissue specificity: Highly expressed in heart and skeletal muscle. {ECO
• Sequence:

  MEDSQDLNEQSVKKTCTESDVSQSQNSRSMEMQDLASPHTLVGGGDTPGSSKLEKSNLSSTSVTTNGTGGENMTV
  LNTADWLLSCNTPSSATMSLLAVKTEPLNSSETTATTGDGALDTFTGSVITSSGYSPRSAHQYSPQLYPSKPYPH
  ILSTPAAQTMSAYAGQTQYSGMQQPAVYTAYSQTGQPYSLPTYDLGVMLPAIKTESGLSQTQSPLQSGCLSYSPG
  FSTPQPGQTPYSYQMPGSSFAPSSTIYANNSVSNSTNFSGSQQDYPSYTAFGQNQYAQYYSASTYGAYMTSNNTA
  DGTPSSTSTYQLQESLPGLTNQPGEFDTMQSPSTPIKDLDERTCRSSGSKSRGRGRKNNPSPPPDSDLERVFVWD
  LDETIIVFHSLLTGSYAQKYGKDPPMAVTLGLRMEEMIFNLADTHLFFNDLEECDQVHIDDVSSDDNGQDLSTYS
  FATDGFHAAASSANLCLPTGVRGGVDWMRKLAFRYRRVKELYNTYKNNVGGLLGPAKRDAWLQLRAEIEGLTDSW
  LTNALKSLSIISTRSNCINVLVTTTQLIPALAKVLLYSLGGAFPIENIYSATKIGKESCFERIMQRFGRKVVYVV
  IGDGVEEEQAAKKHNMPFWRISSHSDLLALHQALELEYL

• Structural information:
  • Interpro: IPR028478  IPR006545  IPR042577  IPR038102  IPR028472  
  • CDD: cd02601
  • STRING: ENSP00000432770
• Other Databases: GeneCards:  EYA4  Malacards:  EYA4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004725	protein tyrosine phosphatase activity	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0016576	histone dephosphorylation	IBA	biological process
GO:0045739	positive regulation of DNA repair	IBA	biological process
GO:0048856	anatomical structure development	IBA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006281	DNA repair	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0009653	anatomical structure morphogenesis	TAS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process

Diseases

Associated diseases	References
Deafness, autosomal dominant	KEGG:H00604
Dilated cardiomyopathy	KEGG:H00294
Deafness, autosomal dominant	KEGG:H00604
Dilated cardiomyopathy	KEGG:H00294
Sensorineural hearing loss	PMID:15735644
Cardiomyopathy	PMID:15735644
congestive heart failure	PMID:15735644
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881