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FLASH GENE
Symbol ADGRG2 contributors: mct - updated : 19-09-2016
HGNC name G protein-coupled receptor 64
HGNC id 4516
Corresponding disease
CBAVDX X-Linked congenital bilateral absence of vas deferens
Location Xp22.13      Physical location : -
Synonym name
  • epididymis-specific protein 6
  • He6 receptor
  • epididymal- and efferent-ducts-specific adhesion G protein-coupled receptor G2
  • Synonym symbol(s) HE6, TM7LN2, FLJ00282, MGC104454, MGC138738, MGC138739, GPR64, EDDM6
    DNA
    TYPE functioning gene
    STRUCTURE 133.65 kb     28 Exon(s)    single Copie(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    29 splicing 4895 111 1017 - 2003 12420295
    27 splicing 4829 109 995 - 2003 12420295
    29 splicing 4886 111 1014 - 2003 12420295
    28 splicing 4847 - 1001 - 2003 12420295
    28 splicing 4742 - 966 - 2003 12420295
    28 - 4853 - 1003 - 2003 12420295
    26 - 4781 - 979 - 2003 12420295
    27 - 4805 - 987 - 2003 12420295
    27 - 4823 - 993 - 2003 12420295
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemmale genital tractepididymis   Homo sapiens
     male systemtestis  moderately
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a GPS domain
  • a seven transmembrane domain (7tm_2)
  • HOMOLOGY
    interspecies homolog to murine Gpr64 (81.71 pc)
    homolog to rattus Gpr64 (81.07 pc)
    Homologene
    FAMILY
  • G-protein coupled receptor 2 family
  • LN-TM7 subfamily
  • CATEGORY receptor membrane G
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • involved in spermatogenesis
  • orphan receptor regarding its endogenous agonist and signal transduction
  • adhesion GPCR ADGRG2 is critically involved in the adhesion and migration of certain breast cancer cells through mechanisms including a non-canonical NFkB pathway
  • crucial role of ADGRG2 in human male fertility
  • is able to activate G-protein-mediated signal transduction through a tethered agonist sequence located immediately downstream of the GPS domain
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • promotes invasiveness and metastasis in Ewing sarcomas through PGF and MMP13
  • cell & other
    REGULATION
    activated by auto-proteolytic cleavage of its very large extracellular N-terminal domains normally acting as a negative regulator of the intrinsically constitutively active seven transmembrane domain
    ASSOCIATED DISORDERS
    corresponding disease(s) CBAVDX
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in Ewing sarcomas (ES)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS