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FLASH GENE
Symbol CALM3 contributors: mct - updated : 10-05-2019
HGNC name calmodulin 3 (phosphorylase kinase, delta)
HGNC id 1449
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • two Eps15 homology domains
  • four EF-hand calcium binding domains
  • four functional calcium-binding sites
    • HOMOLOGY
    interspecies
    intraspecies homolog to CALM1, CALM2
    Homologene
    FAMILY
    CATEGORY enzyme , regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • phosphorylase kinase, delta
  • calcium modulated protein
  • mediating the control of a large number of enzymes by Ca(2+), protein kinases and phosphatases
  • EGFR, CALM3 and SMARCD1 play roles in bone and/or fat metabolism
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
  • interaction between RAB3B and calmodulin, Ca(2+)-dependent (RAB3B is primarily localized with the particulate fraction and Ca(2+)/calmodulin could regulate function of this GTPase in the platelet)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) LQT16
    Susceptibility
  • to variations in the BMD of the hip, spine and femoral neck
  • to hypertrophic (HCM) and dilated cardiomyopathies (DCM)
  • to familial hypertrophic cardiomyopathy (FHC)
    • Variant & Polymorphism other
  • SNP rs12461917, and rs11083838 in the 3'-flanking region of the CALM3 in Caucasian women may contribute to variations in the BMD of the hip, spine and femoral neck
  • -34T>A CALM3 polymorphism is a modifier gene for FHC, potentially by affecting expression level of CALM3 and therefore Ca(2+)-handling and development of hypertrophy
  • polymorphisms are associated with increased risk of HCM and DCM and may act as disease modifier
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS