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

Gene ID: 2070, updated on 4-Jan-2025

Summary

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 MIM:603550; AllianceGenome:HGNC:3522
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]
Expression
Broad expression in prostate (RPKM 1.8), kidney (RPKM 1.5) and 15 other tissues See more
Orthologs
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Genomic context

See EYA4 in Genome Data Viewer
Location:
6q23.2
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (133240593..133532128)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (134429416..134720956)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (133562495..133853266)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 326 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89898 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_89904 Neighboring gene MT-CYB pseudogene 4 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:133562838-133563732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:133563733-133564625 Neighboring gene uncharacterized LOC124901403 Neighboring gene NANOG hESC enhancer GRCh37_chr6:133731684-133732216 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:133802579-133802752 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:133826289-133827488 Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 21 Neighboring gene TCF21 antisense RNA inducing promoter demethylation Neighboring gene GATA motif-containing MPRA enhancer 179 Neighboring gene MPRA-validated peak6128 silencer Neighboring gene ferritin heavy chain 1 pseudogene 26 Neighboring gene uncharacterized LOC124901402

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-01-22)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-01-22)

ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
EBI GWAS Catalog
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker.
EBI GWAS 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.
EBI GWAS Catalog

Interactions

General gene information

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone H2AXY142 phosphatase activity  
enables metal ion binding  
enables non-membrane spanning protein tyrosine phosphatase activity  
enables protein binding PubMed 
enables protein tyrosine phosphatase activity  
enables protein tyrosine phosphatase activity, metal-dependent  
Process Evidence Code Pubs
involved_in DNA repair  
involved_in anatomical structure morphogenesis PubMed 
involved_in cell differentiation  
involved_in chromatin remodeling  
involved_in inner ear development  
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand  
involved_in positive regulation of DNA repair  
involved_in visual perception PubMed 
Component Evidence Code Pubs
located_in cytoplasm  
is_active_in nucleus  

General protein information

Preferred Names
eyes absent homolog 4
Names
dJ78N10.1 (eyes absent)
eyes absent-like protein 4
NP_001287941.1
NP_001287942.1
NP_001357387.1
NP_001357388.1
NP_004091.3
NP_742101.2
NP_742103.1
XP_005266908.1
XP_016865857.1
XP_016865858.1
XP_016865860.1
XP_016865862.1
XP_016865863.1
XP_047274231.1
XP_047274232.1
XP_047274233.1
XP_047274234.1
XP_047274235.1
XP_047274236.1
XP_047274237.1
XP_047274238.1
XP_047274239.1
XP_047274240.1
XP_047274241.1
XP_047274242.1
XP_047274243.1
XP_047274244.1
XP_054210426.1
XP_054210427.1
XP_054210428.1
XP_054210429.1
XP_054210430.1
XP_054210431.1
XP_054210432.1
XP_054210433.1
XP_054210434.1
XP_054210435.1
XP_054210436.1
XP_054210437.1
XP_054210438.1
XP_054210439.1
XP_054210440.1
XP_054210441.1
XP_054210442.1
XP_054210443.1
XP_054210444.1
XP_054210445.1
XP_054210446.1

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.

Genomic

  1. NG_011596.2 RefSeqGene

    Range
    5001..295772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_418

mRNA and Protein(s)

  1. NM_001301012.2NP_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, AL121959, AL450270, AW613879
    Consensus CDS
    CCDS75523.1
    UniProtKB/TrEMBL
    A0A0S2Z3Q2, E7ESD5
    Related
    ENSP00000516341.1, ENST00000706301.1
    Conserved Domains (2) summary
    TIGR01658
    Location:314585
    EYA-cons_domain; eyes absent protein conserved domain
    pfam12533
    Location:153232
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  2. NM_001301013.2NP_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, AL121959, AL450270, AW613879, Y17114
    Consensus CDS
    CCDS75521.1
    UniProtKB/TrEMBL
    B4DRQ6, F2Z2Y1
    Related
    ENSP00000432770.1, ENST00000531901.5
    Conserved Domains (3) summary
    TIGR01658
    Location:374645
    EYA-cons_domain; eyes absent protein conserved domain
    pfam00702
    Location:376621
    Hydrolase; haloacid dehalogenase-like hydrolase
    pfam12533
    Location:207286
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  3. NM_001370458.1NP_001357387.1  eyes absent homolog 4 isoform g

    Status: REVIEWED

    Source sequence(s)
    AL024497, AL121959, AL450270
    Consensus CDS
    CCDS94004.1
    UniProtKB/TrEMBL
    B4DRQ6, E9PLN6
    Related
    ENSP00000433219.1, ENST00000525849.7
    Conserved Domains (1) summary
    cd02601
    Location:345616
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  4. NM_001370459.1NP_001357388.1  eyes absent homolog 4 isoform h

    Status: REVIEWED

    Source sequence(s)
    AL024497, AL121959, AL450270
    Consensus CDS
    CCDS94005.1
    UniProtKB/TrEMBL
    A0A8C8KDW0, E7ESD5
    Related
    ENSP00000347294.4, ENST00000355167.8
    Conserved Domains (1) summary
    cd02601
    Location:320591
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
  5. NM_004100.5NP_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
    B7Z7F7, O95464, O95677, O95679, Q8IW39, Q9NTR7
    UniProtKB/TrEMBL
    B4DRQ6
    Related
    ENSP00000347434.7, ENST00000355286.12
    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
  6. NM_172103.4NP_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/TrEMBL
    A0A0S2Z3V9, B4DRQ6
    Related
    ENSP00000404558.3, ENST00000431403.3
    Conserved Domains (2) summary
    cd02601
    Location:345616
    HAD_Eya; protein tyrosine phosphatase domain of the nuclear transcription factor of Eyes absent (Eya) and related phosphatase domains
    cl25764
    Location:109260
    PAT1; Topoisomerase II-associated protein PAT1
  7. NM_172105.4NP_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
    UniProtKB/TrEMBL
    B4DRQ6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    133240593..133532128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010368.3XP_016865857.1  eyes absent homolog 4 isoform X1

    UniProtKB/TrEMBL
    B4DRQ6
  2. XM_047418278.1XP_047274234.1  eyes absent homolog 4 isoform X8

    UniProtKB/TrEMBL
    B4DRQ6
  3. XM_047418275.1XP_047274231.1  eyes absent homolog 4 isoform X4

    UniProtKB/TrEMBL
    B4DRQ6
  4. XM_047418279.1XP_047274235.1  eyes absent homolog 4 isoform X9

    UniProtKB/TrEMBL
    B4DRQ6
  5. XM_047418282.1XP_047274238.1  eyes absent homolog 4 isoform X12

    UniProtKB/TrEMBL
    B4DRQ6, E9PLN6
  6. XM_047418276.1XP_047274232.1  eyes absent homolog 4 isoform X6

    UniProtKB/TrEMBL
    B4DRQ6
  7. XM_047418285.1XP_047274241.1  eyes absent homolog 4 isoform X15

    UniProtKB/TrEMBL
    E7ESD5
  8. XM_047418286.1XP_047274242.1  eyes absent homolog 4 isoform X18

    UniProtKB/TrEMBL
    A0A8C8KDW0, E7ESD5
  9. XM_047418288.1XP_047274244.1  eyes absent homolog 4 isoform X20

    UniProtKB/TrEMBL
    A0A0S2Z3Q2, E7ESD5
    Related
    ENSP00000395916.2, ENST00000452339.6
  10. XM_017010373.3XP_016865862.1  eyes absent homolog 4 isoform X16

    UniProtKB/TrEMBL
    E7ESD5
  11. XM_047418277.1XP_047274233.1  eyes absent homolog 4 isoform X7

    UniProtKB/TrEMBL
    B4DRQ6
  12. XM_005266851.6XP_005266908.1  eyes absent homolog 4 isoform X3

    UniProtKB/TrEMBL
    B4DRQ6
    Conserved Domains (2) summary
    TIGR01658
    Location:374645
    EYA-cons_domain; eyes absent protein conserved domain
    pfam12533
    Location:207286
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  13. XM_017010369.3XP_016865858.1  eyes absent homolog 4 isoform X2

    UniProtKB/TrEMBL
    B4DRQ6
  14. XM_047418281.1XP_047274237.1  eyes absent homolog 4 isoform X11

    UniProtKB/TrEMBL
    B4DRQ6
  15. XM_017010371.3XP_016865860.1  eyes absent homolog 4 isoform X5

    UniProtKB/TrEMBL
    E7ESD5
  16. XM_047418283.1XP_047274239.1  eyes absent homolog 4 isoform X13

    UniProtKB/TrEMBL
    B4DRQ6
  17. XM_047418280.1XP_047274236.1  eyes absent homolog 4 isoform X10

    UniProtKB/TrEMBL
    E7ESD5
  18. XM_047418284.1XP_047274240.1  eyes absent homolog 4 isoform X14

    UniProtKB/TrEMBL
    B4DRQ6
  19. XM_017010374.3XP_016865863.1  eyes absent homolog 4 isoform X17

    UniProtKB/TrEMBL
    E7ESD5
    Related
    ENSP00000388670.2, ENST00000430974.6
  20. XM_047418287.1XP_047274243.1  eyes absent homolog 4 isoform X19

    UniProtKB/TrEMBL
    E7ESD5

RNA

  1. XR_001743219.3 RNA Sequence

  2. XR_001743220.3 RNA Sequence

  3. XR_007059221.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    134429416..134720956
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054354458.1XP_054210433.1  eyes absent homolog 4 isoform X8

    UniProtKB/TrEMBL
    B4DRQ6
  2. XM_054354459.1XP_054210434.1  eyes absent homolog 4 isoform X9

    UniProtKB/TrEMBL
    B4DRQ6
  3. XM_054354469.1XP_054210444.1  eyes absent homolog 4 isoform X18

    UniProtKB/TrEMBL
    A0A8C8KDW0, E7ESD5
  4. XM_054354471.1XP_054210446.1  eyes absent homolog 4 isoform X20

    UniProtKB/TrEMBL
    A0A0S2Z3Q2, E7ESD5
  5. XM_054354451.1XP_054210426.1  eyes absent homolog 4 isoform X1

    UniProtKB/TrEMBL
    B4DRQ6
  6. XM_054354454.1XP_054210429.1  eyes absent homolog 4 isoform X4

    UniProtKB/TrEMBL
    B4DRQ6
  7. XM_054354456.1XP_054210431.1  eyes absent homolog 4 isoform X6

    UniProtKB/TrEMBL
    B4DRQ6
  8. XM_054354466.1XP_054210441.1  eyes absent homolog 4 isoform X15

    UniProtKB/TrEMBL
    E7ESD5
  9. XM_054354467.1XP_054210442.1  eyes absent homolog 4 isoform X16

    UniProtKB/TrEMBL
    E7ESD5
  10. XM_054354462.1XP_054210437.1  eyes absent homolog 4 isoform X12

    UniProtKB/TrEMBL
    B4DRQ6, E9PLN6
  11. XM_054354453.1XP_054210428.1  eyes absent homolog 4 isoform X3

    UniProtKB/TrEMBL
    B4DRQ6
  12. XM_054354461.1XP_054210436.1  eyes absent homolog 4 isoform X11

    UniProtKB/TrEMBL
    B4DRQ6
  13. XM_054354463.1XP_054210438.1  eyes absent homolog 4 isoform X13

    UniProtKB/TrEMBL
    B4DRQ6
  14. XM_054354464.1XP_054210439.1  eyes absent homolog 4 isoform X14

    UniProtKB/TrEMBL
    B4DRQ6
  15. XM_054354468.1XP_054210443.1  eyes absent homolog 4 isoform X17

    UniProtKB/TrEMBL
    E7ESD5
  16. XM_054354470.1XP_054210445.1  eyes absent homolog 4 isoform X19

    UniProtKB/TrEMBL
    E7ESD5
  17. XM_054354457.1XP_054210432.1  eyes absent homolog 4 isoform X7

    UniProtKB/TrEMBL
    B4DRQ6
  18. XM_054354452.1XP_054210427.1  eyes absent homolog 4 isoform X2

    UniProtKB/TrEMBL
    B4DRQ6
  19. XM_054354465.1XP_054210440.1  eyes absent homolog 4 isoform X21

    UniProtKB/TrEMBL
    E7ESD5
  20. XM_054354455.1XP_054210430.1  eyes absent homolog 4 isoform X5

    UniProtKB/TrEMBL
    E7ESD5
  21. XM_054354460.1XP_054210435.1  eyes absent homolog 4 isoform X10

    UniProtKB/TrEMBL
    E7ESD5

RNA

  1. XR_008487274.1 RNA Sequence

  2. XR_008487275.1 RNA Sequence

  3. XR_008487276.1 RNA Sequence

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