Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CALM3 contributors: mct - updated : 10-05-2019
HGNC name calmodulin 3 (phosphorylase kinase, delta)
HGNC id 1449
DNA
TYPE functioning gene
STRUCTURE 9.71 kb     6 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
6 - 2179 - 113 - 2016 27516456
6 - 2382 - 149 - 2017 28765142
  • CALM3L, with retained intron in the 3prime-UTR
  • retained intron is a critical element in recruiting STAU2, which then allows for the localization of CALM3L mRNA to distal dendrites
  • 6 - 2374 - 113 - 2016 27516456
    6 - 2368 - 113 - 2016 27516456
    5 - 2345 - 113 - 2016 27516456
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveintestinesmall intestine  highly
    Nervousbrainhindbraincerebellum highly Homo sapiensFetal
    Reproductivefemale systemuterus  highly
    Urinarybladder   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Muscularmyocyte Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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