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FLASH GENE
Symbol EYA4 contributors: - updated : 26-01-2006
HGNC name eyes absent homolog 4 (Drosophila)
HGNC id 3522
Corresponding disease
CMD1J cardiomyopathy, dilated 1J
DFNA10 neurosensory deafness 10
Location 6q23      Physical location : 133.562.494 - 133.853.257
Synonym symbol(s) RP11-704J174
EC.number 3.1.3.48
DNA
TYPE functioning gene
STRUCTURE 288.00 kb     21 Exon(s)
10 Kb 5' upstream gene genomic sequence study
text structure and alternatif exon 16a
MAPPING cloned Y linked Y status provisional
Physical map
MOXD1 6q22-q23 monooxygenase, DBH-like 1 STX7 6q22.3-q24 syntaxin 7 TAR3 6q23.1 trace amine receptor 3 GPR102 6q23.2 G protein-coupled receptor 102 TA4 6q23.1 trace amine receptor 4 PNR 6q23 putative neurotransmitter receptor GPR57 6q23-q24 G protein-coupled receptor 57 GPR58 6q23-q24 G protein-coupled receptor 58 TAR1 6q23.1 trace amine receptor 1 VNN1 6q23-q24 vanin 1 VNN3 6q23-q24 vanin 3 VNN2 6q23-q24 vanin 2 C6orf192 6q22.3-q23.3 chromosome 6 open reading frame 192 RPS12 6q23.1 ribosomal protein S12 LOC134870 6q23.1 similar to 60S ribosomal protein L23a EYA4 6q23 eyes absent homolog 4 (Drosophila) MGC34034 6q23.2 hypothetical protein MGC34034 TCF21 6q23-q24 transcription factor 21 FLJ35700 6q23.2 hypothetical protein FLJ35700 TBPL1 6q22.1-q22.3 TBP-like 1 SLC2A12 6q23.2 solute carrier family 2 (facilitated glucose transporter), member 12 SGK 6q23 serum/glucocorticoid regulated kinase
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 3077 69 639 - Borsani
  • exon 19 -
  • exon 20 +
  • - splicing - 61 569 skeletal muscle Borsani
    exon 5
    - splicing - 49 452 cell lines, £lymphoblastoid, lens epithelial Borsani
    exon 16a
    - splicing - 58 538 heart Borsani
  • exon 19 +
  • exon 20 -
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Reproductivefemale systemovary   
     male systemtestis   
    Respiratoryrespiratory tractlarynx   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text primarily in the craniofacial mesenchyme, the dermamyotome and the limb
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C terminal large highly conserved domain of 271 AA,the eya homology domain
  • a basic segment followed by an alpha helical domain composed of four successive hepta repeats forming a leucine zipper
  • HOMOLOGY
    Homologene
    FAMILY
  • phosphatase subgroup of the haloacid dehalogenase-like (HAD)hydrolase superfamily
  • CATEGORY regulatory , transcription factor , receptor membrane tyrosine phosphatase
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,nucleus
    basic FUNCTION
  • transcriptional coactivator playing a role in embryonic and post natal development of mature organ of CORTI
  • participating directly in the modulation of cellular signaling through its phosphatase activity
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    text transcriptional activator
    PATHWAY
    metabolism
    signaling sensory transduction/hearing , sensory transduction/vision
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SIX (EYA4/SIX mediated transcriptional regulation in heart function)
  • DAGH
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA10 , CMD1J
    related resource Hereditary Hearing Loss Homepage
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS