• Gene id: 2139

Gene Summary

• Gene Symbol: EYA2   Gene   UCSC   Ensembl
• Aliases: EAB1
• Gene name: EYA transcriptional coactivator and phosphatase 2
• Alternate names: eyes absent homolog 2,
• Gene location: 20q13.12 (46894623: 47188843)     Exons: 16     NC_000020.11
• Gene summary(Entrez): This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing
• OMIM: 602935

Protein Summary

• Protein general information: O00167  
  • Name: Eyes absent homolog 2 (EC 3.1.3.48)
  • Length: 538  
  • Mass: 59232
  • Tissue specificity: Highest expression in muscle with lower levels in kidney, placenta, pancreas, brain and heart. {ECO
• Sequence:

  MVELVISPSLTVNSDCLDKLKFNRADAAVWTLSDRQGITKSAPLRVSQLFSRSCPRVLPRQPSTAMAAYGQTQYS
  AGIQQATPYTAYPPPAQAYGIPSYSIKTEDSLNHSPGQSGFLSYGSSFSTSPTGQSPYTYQMHGTTGFYQGGNGL
  GNAAGFGSVHQDYPSYPGFPQSQYPQYYGSSYNPPYVPASSICPSPLSTSTYVLQEASHNVPNQSSESLAGEYNT
  HNGPSTPAKEGDTDRPHRASDGKLRGRSKRSSDPSPAGDNEIERVFVWDLDETIIIFHSLLTGTFASRYGKDTTT
  SVRIGLMMEEMIFNLADTHLFFNDLEDCDQIHVDDVSSDDNGQDLSTYNFSADGFHSSAPGANLCLGSGVHGGVD
  WMRKLAFRYRRVKEMYNTYKNNVGGLIGTPKRETWLQLRAELEALTDLWLTHSLKALNLINSRPNCVNVLVTTTQ
  LIPALAKVLLYGLGSVFPIENIYSATKTGKESCFERIMQRFGRKAVYVVIGDGVEEEQGAKKHNMPFWRISCHAD
  LEALRHALELEYL

• Structural information:
  • Interpro: IPR028473  IPR006545  IPR042577  IPR038102  IPR028472   IPR036412  
  • CDD: cd02601
  • PDB: 3GEB 3HB0 3HB1 4EGC 5ZMA
  • PDBsum: 3GEB 3HB0 3HB1 4EGC 5ZMA
  • DIP: 40707
  • STRING: ENSP00000333640
• Other Databases: GeneCards:  EYA2  Malacards:  EYA2

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:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0016576	histone dephosphorylation	IDA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0014706	striated muscle tissue development	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0007501	mesodermal cell fate specification	TAS	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014706	striated muscle tissue development	IEA	biological process
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0097345	mitochondrial outer membrane permeabilization	IEA	biological process
GO:0097192	extrinsic apoptotic signaling pathway in absence of ligand	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0008134	transcription factor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	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
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq