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EYA2 EYA transcriptional coactivator and phosphatase 2 [ Homo sapiens (human) ]

Gene ID: 2139, updated on 12-May-2016
Official Symbol
EYA2provided by HGNC
Official Full Name
EYA transcriptional coactivator and phosphatase 2provided by HGNC
Primary source
HGNC:HGNC:3520
See related
Ensembl:ENSG00000064655 HPRD:09041; MIM:601654; Vega:OTTHUMG00000033041
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EAB1
Summary
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 results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
Orthologs
Location:
20q13.1
Exon count:
17
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 20 NC_000020.11 (46894624..47188844)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (45523263..45817492)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 2 member 10 Neighboring gene ribosomal protein L13 pseudogene 14 Neighboring gene uncharacterized LOC101927355 Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 54 Neighboring gene ribosomal protein S2 pseudogene 54 Neighboring gene microRNA 3616 Neighboring gene zinc finger MYND-type containing 8 Neighboring gene uncharacterized LOC100131496 Neighboring gene uncharacterized LOC101927377

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
NHGRI GWA Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
NHGRI GWA Catalog
  • DNA Double Strand Break Response, organism-specific biosystem (from REACTOME)
    DNA Double Strand Break Response, organism-specific biosystemDNA double strand break (DSB) response involves sensing of DNA DSBs by the MRN complex which triggers ATM activation. ATM phosphorylates a number of proteins involved in DNA damage checkpoint signali...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystem (from REACTOME)
    Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks, organism-specific biosystemActivated ATM phosphorylates a number of proteins involved in the DNA damage checkpoint and DNA repair (Thompson and Schild 2002, Ciccia and Elledge 2010), thereby triggering and coordinating accumul...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC10614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA repair IEA
Inferred from Electronic Annotation
more info
 
extrinsic apoptotic signaling pathway in absence of ligand IEA
Inferred from Electronic Annotation
more info
 
histone dephosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
mesodermal cell fate specification TAS
Traceable Author Statement
more info
PubMed 
mitochondrial outer membrane permeabilization IEA
Inferred from Electronic Annotation
more info
 
peptidyl-tyrosine dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
striated muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
eyes absent homolog 2
NP_005235.3
NP_742108.2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011673.2 RefSeqGene

    Range
    4755..298975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005244.4NP_005235.3  eyes absent homolog 2 isoform a

    See identical proteins and their annotated locations for NP_005235.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as EYA2I, represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL022342, AL121776, AL354766, AL359434
    Consensus CDS
    CCDS13403.1
    UniProtKB/Swiss-Prot
    O00167
    Related
    ENSP00000333640, OTTHUMP00000031666, ENST00000327619, OTTHUMT00000080326
    Conserved Domains (2) summary
    pfam08347
    Location:160246
    CTNNB1_binding; N-terminal CTNNB1 binding
    TIGR01658
    Location:267538
    EYA-cons_domain; eyes absent protein conserved domain
  2. NM_172110.3NP_742108.2  eyes absent homolog 2 isoform c

    See identical proteins and their annotated locations for NP_742108.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AL354766, BC013882
    Consensus CDS
    CCDS54471.1
    UniProtKB/Swiss-Prot
    O00167
    Related
    ENSP00000349986, OTTHUMP00000214835, ENST00000357410, OTTHUMT00000354589
    Conserved Domains (2) summary
    pfam08347
    Location:160246
    CTNNB1_binding; N-terminal CTNNB1 binding
    TIGR01658
    Location:267459
    EYA-cons_domain; eyes absent protein conserved domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p2 Primary Assembly

    Range
    46894624..47188844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011528687.1XP_011526989.1  

    Conserved Domains (1) summary
    TIGR01658
    Location:267302
    EYA-cons_domain; eyes absent protein conserved domain
  2. XM_005260327.1XP_005260384.1  

    Conserved Domains (1) summary
    TIGR01658
    Location:185456
    EYA-cons_domain; eyes absent protein conserved domain

Alternate CHM1_1.1

Genomic

  1. NC_018931.2 Alternate CHM1_1.1

    Range
    45426259..45720382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172111.1: Suppressed sequence

    Description
    NM_172111.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_172112.1: Suppressed sequence

    Description
    NM_172112.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_172113.1: Suppressed sequence

    Description
    NM_172113.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.