Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

EYA4 eyes absent homolog 4 (Drosophila) [ Homo sapiens (human) ]

Gene ID: 2070, updated on 12-Apr-2014
Official Symbol
EYA4provided by HGNC
Official Full Name
eyes absent homolog 4 (Drosophila)provided by HGNC
Primary source
HGNC:3522
Locus tag
RP11-704J17.4
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 nonsyndromic sensorineural 10 locus. Defects in this gene are also associated with dilated cardiomyopathy 1J. Three transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Location :
6q23
Sequence :
Chromosome: 6; NC_000006.12 (133241357..133532120)
See EYA4 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 326 Neighboring gene MT-CYB pseudogene 4 Neighboring gene serine/arginine repetitive matrix protein 1-like Neighboring gene uncharacterized LOC100507308 Neighboring gene ferritin, heavy polypeptide 1 pseudogene 26 Neighboring gene uncharacterized protein MGC34034

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Copy number response

Description
Copy number response
Triplosensitivity

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

ISCA Genome Curation Page
Haploinsufficency

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

ISCA 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
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 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 
chromatin modification IEA
Inferred from Electronic Annotation
more info
 
inner ear development IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis 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
eyes absent homolog 4
dJ78N10.1 (eyes absent)
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_004100.4NP_004091.3  eyes absent homolog 4 isoform a

    See proteins identical to 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 (2) summary
    TIGR01658
    Location:368639
    Blast Score: 1009
    EYA-cons_domain; eyes absent protein conserved domain
    pfam12533
    Location:207318
    Blast Score: 82
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  2. NM_172103.3NP_742101.2  eyes absent homolog 4 isoform b

    See proteins identical to 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
    Q96CJ7
    Conserved Domains (2) summary
    TIGR01658
    Location:345616
    Blast Score: 1009
    EYA-cons_domain; eyes absent protein conserved domain
    pfam12533
    Location:184295
    Blast Score: 82
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  3. NM_172105.3NP_742103.1  eyes absent homolog 4 isoform d

    See proteins identical to 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
    Blast Score: 1016
    EYA-cons_domain; eyes absent protein conserved domain
    pfam07223
    Location:131342
    Blast Score: 113
    DUF1421; Protein of unknown function (DUF1421)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12

    Range
    133241357..133532120
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715373.1XP_006715436.1  

    Conserved Domains (2) summary
    TIGR01658
    Location:314585
    Blast Score: 1016
    EYA-cons_domain; eyes absent protein conserved domain
    pfam07223
    Location:77288
    Blast Score: 108
    DUF1421; Protein of unknown function (DUF1421)
  2. XM_005266850.2XP_005266907.1  

    UniProtKB/TrEMBL
    F2Z2Y1
    Conserved Domains (2) summary
    TIGR01658
    Location:374645
    Blast Score: 1009
    EYA-cons_domain; eyes absent protein conserved domain
    pfam12533
    Location:207318
    Blast Score: 82
    Neuro_bHLH; Neuronal helix-loop-helix transcription factor
  3. XM_005266851.2XP_005266908.1  

    Conserved Domains (2) summary
    TIGR01658
    Location:374645
    Blast Score: 1016
    EYA-cons_domain; eyes absent protein conserved domain
    pfam07223
    Location:131348
    Blast Score: 102
    DUF1421; Protein of unknown function (DUF1421)
  4. XM_005266853.2XP_005266910.1  

    UniProtKB/TrEMBL
    E9PLN6
    Conserved Domains (2) summary
    TIGR01658
    Location:345616
    Blast Score: 1016
    EYA-cons_domain; eyes absent protein conserved domain
    pfam07223
    Location:108319
    Blast Score: 111
    DUF1421; Protein of unknown function (DUF1421)
  5. XM_005266852.2XP_005266909.1  

    Related
    ENSP00000388670, OTTHUMP00000233944
    Conserved Domains (2) summary
    TIGR01658
    Location:374619
    Blast Score: 913
    EYA-cons_domain; eyes absent protein conserved domain
    pfam07223
    Location:131348
    Blast Score: 100
    DUF1421; Protein of unknown function (DUF1421)

Alternate HuRef

Genomic

  1. AC_000138.1 Alternate HuRef

    Range
    131131517..131422316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...