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    Eya4 EYA transcriptional coactivator and phosphatase 4 [ Mus musculus (house mouse) ]

    Gene ID: 14051, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Eya4provided by MGI
    Official Full Name
    EYA transcriptional coactivator and phosphatase 4provided by MGI
    Primary source
    MGI:MGI:1337104
    See related
    Ensembl:ENSMUSG00000010461 AllianceGenome:MGI:1337104
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    B130023L16Rik
    Summary
    Predicted to enable protein tyrosine phosphatase activity. Acts upstream of or within middle ear morphogenesis and sensory perception of sound. Predicted to be located in cytoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; embryo mesenchyme; future brain; sensory organ; and urinary system. Used to study otitis media. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 10; congestive heart failure; dilated cardiomyopathy; dilated cardiomyopathy 1J; and sensorineural hearing loss. Orthologous to human EYA4 (EYA transcriptional coactivator and phosphatase 4). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 8.2), limb E14.5 (RPKM 3.1) and 7 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Eya4 in Genome Data Viewer
    Location:
    10 A3; 10 10.44 cM
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (22978861..23226785, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (23102962..23350838, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_26037 Neighboring gene predicted gene, 35126 Neighboring gene predicted gene, 35179 Neighboring gene STARR-seq mESC enhancer starr_26038 Neighboring gene STARR-seq mESC enhancer starr_26039 Neighboring gene STARR-seq mESC enhancer starr_26040 Neighboring gene predicted gene, 24655 Neighboring gene STARR-seq mESC enhancer starr_26042 Neighboring gene predicted gene, 53620 Neighboring gene STARR-seq mESC enhancer starr_26043 Neighboring gene predicted gene, 47843 Neighboring gene STARR-seq mESC enhancer starr_26044 Neighboring gene STARR-seq mESC enhancer starr_26045 Neighboring gene STARR-seq mESC enhancer starr_26046 Neighboring gene predicted gene, 35291

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Regulation of the innate immune response by threonine-phosphatase of Eyes absent. Okabe Y, et al. Nature, 2009 Jul 23. PMID 19561593
    2. EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally. Abe Y, et al. Hum Mutat, 2009 Oct. PMID 19606496
    3. E-MAP-115, encoding a microtubule-associated protein, is a retinoic acid-inducible gene required for spermatogenesis. Komada M, et al. Genes Dev, 2000 Jun 1. PMID 10837026, Free PMC Article
    4. Eya4 Induces Hypertrophy via Regulation of p27kip1. Williams T, et al. Circ Cardiovasc Genet, 2015 Dec. PMID 26499333
    5. Eya4-deficient mice are a model for heritable otitis media. Depreux FF, et al. J Clin Invest, 2008 Feb. PMID 18219393, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. results implicate Eya4/Six1 regulates normal cardiac function via p27/casein kinase-2alpha/histone deacetylase 2 and indicate that mutations within this transcriptional complex and signaling cascade lead to the development of cardiomyopathy.
      Title: Eya4 Induces Hypertrophy via Regulation of p27kip1.
    2. that Eyes absent 4 (EYA4), originally identified as a co-transcription factor, stimulates the expression of IFN-beta and CXCL10 in response to the undigested DNA of apoptotic cells
      Title: Regulation of the innate immune response by threonine-phosphatase of Eyes absent.
    3. Eya4(-/-) mice developed otitis media with effusion; anatomic studies revealed abnormal middle ear cavity and eustachian tube dysmorphology.
      Title: Eya4-deficient mice are a model for heritable otitis media.
    4. constructs of the homologous region ( Eya1HR and Eya4HR) interact with Six1 prey constructs, although no interaction with Dach1 prey was demonstrable
      Title: A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation
    • Transgenic (1) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables histone H2AXY142 phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables non-membrane spanning protein tyrosine phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein tyrosine phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein tyrosine phosphatase activity, metal-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within middle ear morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    eyes absent homolog 4
    Names
    eyes absent 4 homolog
    NP_001334301.1
    NP_034297.2
    XP_006512592.1
    XP_017169288.1
    XP_030100738.1
    XP_030100739.1
    XP_030100740.1
    XP_036011486.1
    XP_036011487.1
    XP_036011488.1
    XP_036011489.1
    XP_036011490.1
    XP_036011491.1
    XP_036011492.1
    XP_036011493.1
    XP_036011494.1
    XP_036011495.1

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001347372.2 → NP_001334301.1  eyes absent homolog 4 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC113497, AC153551, AC153914
      Consensus CDS
      CCDS83687.1
      UniProtKB/Swiss-Prot
      Q0VAV8, Q9Z191
      Related
      ENSMUSP00000151287.2, ENSMUST00000220299.2
      Conserved Domains (2) summary
      PTZ00395
      Location:139 → 318
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:345 → 616
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    2. NM_001428461.1 → NP_001415390.1  eyes absent homolog 4 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC113497, AC153551, AC153914
      UniProtKB/TrEMBL
      A0A1W2P721

    3. NM_001428462.1 → NP_001415391.1  eyes absent homolog 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC113497, AC153551, AC153914

    4. NM_010167.6 → NP_034297.2  eyes absent homolog 4 isoform 1

      See identical proteins and their annotated locations for NP_034297.2

      Status: VALIDATED

      Source sequence(s)
      AC113497, AC153551, AC153914
      Consensus CDS
      CCDS35867.1
      UniProtKB/TrEMBL
      Q8BY78
      Related
      ENSMUSP00000090335.5, ENSMUST00000092665.12
      Conserved Domains (2) summary
      PTZ00395
      Location:139 → 318
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:345 → 616
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    RNA

    1. NR_190356.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC113497, AC153551, AC153914

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      22978861..23226785 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036155597.1 → XP_036011490.1  eyes absent homolog 4 isoform X2

      Conserved Domains (2) summary
      PTZ00395
      Location:162 → 341
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:368 → 639
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    2. XM_036155601.1 → XP_036011494.1  eyes absent homolog 4 isoform X5

      UniProtKB/TrEMBL
      Q8BY78
      Conserved Domains (2) summary
      PTZ00395
      Location:139 → 318
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:345 → 616
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    3. XM_036155598.1 → XP_036011491.1  eyes absent homolog 4 isoform X2

      UniProtKB/TrEMBL
      A0A1W2P721
      Conserved Domains (2) summary
      PTZ00395
      Location:162 → 341
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:368 → 639
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    4. XM_036155596.1 → XP_036011489.1  eyes absent homolog 4 isoform X1

      Conserved Domains (2) summary
      PTZ00395
      Location:162 → 341
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:368 → 639
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    5. XM_036155594.1 → XP_036011487.1  eyes absent homolog 4 isoform X1

      Conserved Domains (2) summary
      PTZ00395
      Location:162 → 341
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:368 → 639
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    6. XM_036155602.1 → XP_036011495.1  eyes absent homolog 4 isoform X9

      Conserved Domains (2) summary
      PTZ00395
      Location:3 → 182
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:209 → 480
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    7. XM_017313799.2 → XP_017169288.1  eyes absent homolog 4 isoform X2

      UniProtKB/TrEMBL
      A0A1W2P721
      Related
      ENSMUSP00000151483.2, ENSMUST00000219315.2
      Conserved Domains (2) summary
      PTZ00395
      Location:162 → 341
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:368 → 639
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    8. XM_036155595.1 → XP_036011488.1  eyes absent homolog 4 isoform X1

      Conserved Domains (2) summary
      PTZ00395
      Location:162 → 341
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:368 → 639
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    9. XM_036155593.1 → XP_036011486.1  eyes absent homolog 4 isoform X1

      Conserved Domains (2) summary
      PTZ00395
      Location:162 → 341
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:368 → 639
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    10. XM_030244880.2 → XP_030100740.1  eyes absent homolog 4 isoform X10

      Conserved Domains (2) summary
      PTZ00395
      Location:108 → 287
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:314 → 585
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    11. XM_006512529.5 → XP_006512592.1  eyes absent homolog 4 isoform X6

      Conserved Domains (2) summary
      PTZ00395
      Location:108 → 287
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:314 → 585
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    12. XM_030244878.2 → XP_030100738.1  eyes absent homolog 4 isoform X7

      Conserved Domains (2) summary
      PTZ00395
      Location:100 → 279
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:306 → 577
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    13. XM_030244879.2 → XP_030100739.1  eyes absent homolog 4 isoform X8

      Conserved Domains (2) summary
      PTZ00395
      Location:79 → 258
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:285 → 556
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    14. XM_036155599.1 → XP_036011492.1  eyes absent homolog 4 isoform X3

      Conserved Domains (2) summary
      PTZ00395
      Location:154 → 333
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:360 → 631
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    15. XM_036155600.1 → XP_036011493.1  eyes absent homolog 4 isoform X4

      Conserved Domains (2) summary
      PTZ00395
      Location:149 → 328
      PTZ00395; Sec24-related protein; Provisional
      cd02601
      Location:355 → 626
      HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains

    RNA

    1. XR_004936098.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Z191.2 GenPept UniProtKB/Swiss-Prot:Q9Z191

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