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FLASH GENE
Symbol EYA2 contributors: mct - updated : 21-01-2015
HGNC name eyes absent homolog 2 (Drosophila)
HGNC id 3520
Location 20q13.12      Physical location : 45.523.262 - 45.817.490
Synonym name Drosophila-related express sequence 12
Synonym symbol(s) HGNC3520, DRES12, EAB1
EC.number 3.1.3.48
DNA
TYPE like-sequence
STRUCTURE 294.23 kb     15 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
NCOA5 20q12-q13.2 nuclear receptor coactivator 5 RPL13P2 20q13.12 ribosomal protein L13 pseudogene 2 TNFRSF5 20q12-q13.2 tumor necrosis factor receptor superfamily, member 5 CDH22 20q12-q13.1 cadherin-like 22 SLC35C2 20q13.12 solute carrier family 35, member C2 ELMO2 20q13 engulfment and cell motility 2 (ced-12 homolog, C. elegans) DKFZp547G0215 20q13.12 hypothetical protein DKFZp547G0215 MKRNP3 20q21.1 makorin, ring finger protein, pseudogene 3 LOC343593 20q13.12 similar to BC331191_1 ZNF334 20q13.12 zinc finger protein 334 SLC13A3 20q12-q13.1 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 C20orf64 20q13 chromosome 20 open reading frame 64 SLC2A10 20q13.1 solute carrier family 2 (facilitated glucose transporter), member 10 EYA2 20q13.1 eyes absent homolog 2 (Drosophila) PRKCBP1 20q12-q13.1 protein kinase C binding protein 1 RPL35AP 20q12-q13.1 ribosomal protein L35a pseudogene NCOA3 20q12 nuclear receptor coactivator 3 SULF2 20q12-q13.1 Homo sapiens similar to glucosamine-6-sulfatases (SULF2), mRNA.
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 2702 59.2 538 - 2002 12039049
  • EYA2 I, V1
  • - - 2762 - 543 - 2002 12039049
    - - 2508 - 538 - 2002 12039049
    - - 2458 - 538 - 2002 12039049
    14 - 2483 - 459 - 2002 12039049
    EYA2 V5
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    Nervousbrain    
    Urinarykidney    
    Visualeyeanterior segmentcornea  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connective    
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscular    
    cell lineage
    cell lines neuroblastoma cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text placenta,brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C terminal large highly conserved domain,the EYA homology domain,
  • a basic segment followed by an alpha helical domain composed of four successive repeats forming a leucine zipper
  • HOMOLOGY
    Homologene
    FAMILY
  • phosphatase subgroup of the haloacid dehalogenase-like (HAD)hydrolase superfamily
  • CATEGORY unknown/unspecified , receptor membrane tyrosine phosphatase
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,nucleus
    basic FUNCTION
  • may be involved in eye development
  • participating directly in the modulation of cellular signaling through its phosphatase activity
  • prevents adverse cardiac remodeling under pressure overload partly through altering metabolic gene expression and preserving PI3K/AKT1/MTOR signaling pathway
  • is a necessary co-factor for many of the metastasis promoting functions of SIX1, suggesting that targeting the SIX1-EYA interaction may inhibit breast cancer progression
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • transcriptional and translational component
  • EYA2-SIX1 complex binds to and enhances the expression of MTOR in a synergistic manner
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SIX1 is dependent on EYA2 to mediate numerous pro-metastatic characteristics
  • EYA2 in a physical complex with SIX1 plays a critical role in physiological hypertrophy of heart
  • FOXG1 binds to mammalian-specific noncoding sequences to repress over 12 transcription factors expressed in early progenitors, including EBF2/3, DMRT3, DMRTA1, and EYA2
  • CDK6 binds to and promotes degradation of the EYA2 protein (interaction suggesting that CDK6 regulates EYA2 activity, a mechanism that could be important in development and in cancer)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    was significantly associated with short overall survival in advanced ovarian cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductiveovary
    potential application as a therapeutic target in ovarian cancer
    ANIMAL & CELL MODELS