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FLASH GENE
Symbol ADCY5 contributors: mct - updated : 03-01-2017
HGNC name adenylate cyclase 5
HGNC id 236
Corresponding disease
FDFM familial dyskinesia and facial myokymia
Location 3q21.1      Physical location : 123.003.398 - 123.167.392
Synonym name
  • adenylate cyclase type V
  • ATP pyrophosphate-lyase 5
    • Synonym symbol(s) AC5
    EC.number 4.6.1.1
    DNA
    TYPE functioning gene
    STRUCTURE 164.00 kb     21 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    21 - 3842 - 1261 - Haber (1994)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • one N terminal guanylate cyclase domain
  • a DUF1053 domain
  • one C terminal guanylate cyclase domain
    • HOMOLOGY
    Homologene
    FAMILY
  • adenylyl cyclase class-4/guanylyl cyclase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • adenylyl cyclase, type V, catalyzing the formation of the secondary messenger cyclic adenosine monophosphate (cAMP)
  • not implicated in early insulin secretion in response to an oral glucose load, but contributes to risk for T2D (Saxena 2010)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • dynamic regulation of cAMP synthesis through anchored PRKACA -ADCY5, ADCY6 and AKAP5 complex
  • interacts with RIC8A through directly interacting at its N-terminus
  • interacting with RGS2
  • interacting with G protein betagamma subunit
  • PKD2 interacts with ADCY5 through its C terminus
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FDFM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia (Kuang 2008)
    Susceptibility to type 2 diabetes in sujets with reduced birthweight
    Variant & Polymorphism SNP
  • rs11708067 increasing the risk of type 2 diabetes in sujets with reduced birthweight (Andersson 2010)
  • Allele A of rs11708067, associated with a higher risk of type 2 diabetes (Freathy 2010)
  • (rs11708067 displayed evidence for association with type 2 diabetes
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS