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    EYA4 EYA transcriptional coactivator and phosphatase 4 [ Homo sapiens (human) ]

    Gene ID: 2070, updated on 20-Aug-2016
    Official Symbol
    EYA4provided by HGNC
    Official Full Name
    EYA transcriptional coactivator and phosphatase 4provided by HGNC
    Primary source
    HGNC:HGNC:3522
    See related
    Ensembl:ENSG00000112319 HPRD:04648; MIM:603550; Vega:OTTHUMG00000015602
    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
    CMD1J; DFNA10
    Summary
    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]
    Orthologs
    Location:
    6q23
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (133240340..133532120)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (133561512..133853258)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 326 Neighboring gene mitochondrially encoded cytochrome b pseudogene 4 Neighboring gene uncharacterized LOC107984121 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 21 Neighboring gene TCF21 antisense RNA inducing promoter demethylation Neighboring gene ferritin heavy chain 1 pseudogene 26 Neighboring gene long intergenic non-protein coding RNA 1312

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-09-06)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-09-06)

    ClinGen Genome Curation PagePubMed

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies protein quantitative trait loci (pQTLs).
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
    NHGRI GWA Catalog
    Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development 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
     
    sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    eyes absent homolog 4
    Names
    dJ78N10.1 (eyes absent)
    eyes absent-like protein 4
    NP_001287941.1
    NP_001287942.1
    NP_004091.3
    NP_742101.2
    NP_742103.1

    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_011596.1 RefSeqGene

      Range
      5001..295764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301012.1NP_001287941.1  eyes absent homolog 4 isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has multiple differences in its coding region, compared to variant 1. The resulting isoform (e) is shorter than isoform a.
      Source sequence(s)
      AK295798, AK301950, AL450270, AW613879
      Consensus CDS
      CCDS75523.1
      UniProtKB/Swiss-Prot
      O95677
      UniProtKB/TrEMBL
      A0A0S2Z3Q2, B4DIV6
      Related
      ENSP00000395916, OTTHUMP00000233943, ENST00000452339, OTTHUMT00000391009
      Conserved Domains (2) summary
      pfam07223
      Location:77288
      DUF1421; Protein of unknown function (DUF1421)
      TIGR01658
      Location:314585
      EYA-cons_domain; eyes absent protein conserved domain
    2. NM_001301013.1NP_001287942.1  eyes absent homolog 4 isoform f

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) contains an alternate in-frame segment of the 5' coding region, compared to variant 1. The resulting isoform (f) is longer than isoform a.
      Source sequence(s)
      AK299378, AK301950, AL450270, AW613879, Y17114
      Consensus CDS
      CCDS75521.1
      UniProtKB/Swiss-Prot
      O95677
      UniProtKB/TrEMBL
      B4DRQ6, F2Z2Y1
      Related
      ENSP00000432770, OTTHUMP00000233946, ENST00000531901, OTTHUMT00000391012
      Conserved Domains (2) summary
      pfam12533
      Location:207318
      Neuro_bHLH; Neuronal helix-loop-helix transcription factor
      TIGR01658
      Location:374645
      EYA-cons_domain; eyes absent protein conserved domain
    3. NM_004100.4NP_004091.3  eyes absent homolog 4 isoform a

      See identical proteins and their annotated locations for NP_004091.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform a, which is more abundant in adult brain.
      Source sequence(s)
      AL450270, AW613879, BC014193, BX490250, DA760903, Y17114
      Consensus CDS
      CCDS5165.1
      UniProtKB/Swiss-Prot
      O95677
      UniProtKB/TrEMBL
      Q96CJ7
      Related
      ENSP00000356870, OTTHUMP00000017235, ENST00000367895, OTTHUMT00000042282
      Conserved Domains (3) summary
      TIGR01658
      Location:368639
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:370615
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam12533
      Location:207286
      Neuro_bHLH; Neuronal helix-loop-helix transcription factor
    4. NM_172103.3NP_742101.2  eyes absent homolog 4 isoform b

      See identical proteins and their annotated locations for NP_742101.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment of the 5' coding region, compared to variant 1. The resulting isoform (b) is shorter than isoform a.
      Source sequence(s)
      AL450270, AW613879, BC014193, BC041063, BX490250, Y17114
      Consensus CDS
      CCDS43506.1
      UniProtKB/Swiss-Prot
      O95677
      UniProtKB/TrEMBL
      A0A0S2Z3V9, Q96CJ7
      Related
      ENSP00000347434, OTTHUMP00000233945, ENST00000355286, OTTHUMT00000391011
      Conserved Domains (3) summary
      TIGR01658
      Location:345616
      EYA-cons_domain; eyes absent protein conserved domain
      pfam00702
      Location:347592
      Hydrolase; haloacid dehalogenase-like hydrolase
      pfam12533
      Location:184263
      Neuro_bHLH; Neuronal helix-loop-helix transcription factor
    5. NM_172105.3NP_742103.1  eyes absent homolog 4 isoform d

      See identical proteins and their annotated locations for NP_742103.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (d) is the same size but has a region of difference in the C-terminal, compared to isoform a.
      Source sequence(s)
      AJ007994, AL450270, AW613879, BC014193, BX490250, DA760903, Y17114
      Consensus CDS
      CCDS5166.1
      UniProtKB/Swiss-Prot
      O95677
      UniProtKB/TrEMBL
      Q96CJ7
      Related
      ENSP00000347294, ENST00000355167
      Conserved Domains (2) summary
      TIGR01658
      Location:368639
      EYA-cons_domain; eyes absent protein conserved domain
      pfam12533
      Location:207286
      Neuro_bHLH; Neuronal helix-loop-helix transcription factor

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      133240340..133532120
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010368.1XP_016865857.1  

    2. XM_017010374.1XP_016865863.1  

      Related
      ENSP00000388670, OTTHUMP00000233944, ENST00000430974, OTTHUMT00000391010
    3. XM_017010375.1XP_016865864.1  

    4. XM_005266851.4XP_005266908.1  

      Conserved Domains (2) summary
      pfam07223
      Location:131348
      DUF1421; Protein of unknown function (DUF1421)
      TIGR01658
      Location:374645
      EYA-cons_domain; eyes absent protein conserved domain
    5. XM_005266853.4XP_005266910.1  

      UniProtKB/TrEMBL
      E9PLN6
      Related
      ENSP00000433219, OTTHUMP00000017236, ENST00000525849, OTTHUMT00000042283
      Conserved Domains (2) summary
      pfam07223
      Location:108319
      DUF1421; Protein of unknown function (DUF1421)
      TIGR01658
      Location:345616
      EYA-cons_domain; eyes absent protein conserved domain
    6. XM_017010369.1XP_016865858.1  

    7. XM_017010370.1XP_016865859.1  

    8. XM_017010371.1XP_016865860.1  

    9. XM_017010372.1XP_016865861.1  

    10. XM_017010373.1XP_016865862.1  

    RNA

    1. XR_001743220.1 RNA Sequence

    2. XR_001743219.1 RNA Sequence

      Related
      ENST00000531861

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      133824722..134116529
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_172104.1: Suppressed sequence

      Description
      NM_172104.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.