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FLASH GENE
Symbol TMEM38A contributors: mct - updated : 16-12-2015
HGNC name transmembrane protein 38A
HGNC id 28462
Location 19p13.11      Physical location : 16.771.937 - 16.799.814
Synonym name
  • trimeric intracellular cation channel type A
  • sarcoplasmic reticulum protein of 27 kDa
    • Synonym symbol(s) MGC3169, TRIC-A, TRICA, SRP-27
    DNA
    TYPE functioning gene
    STRUCTURE 27.89 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1639 33.3 299 - 2008 18035970
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately
    Nervousbrain   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • four transmembrane-spanning alpha helices
  • C-terminal domain faces the cytoplasmic side of the endo(sarco)plasmic reticulum
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    intracellular,nuclear envelope
    text
  • distributed in both longitudinal tubules and terminal cisternae of the sarcoplasmic reticulum, as well as in the perinuclear membrane systems and the nuclear envelope of myotubes and adult fibres
  • predominantly expressed in the sarcoplasmic reticulum (SR) of muscle cells
    • basic FUNCTION
  • TMEM38A, TMEM38B channels are likely to act as counter-ion channels that function in synchronization with Ca2+ release from intracellular stores
  • may be involved in the structural organization or function of the molecular machinery underlying excitation-contraction coupling
  • act as novel monovalent cation-specific channels on intracellular membrane systems
  • TMEM38A, TMEM38B, seem to have differential functions in Ca(2+) signaling in excitable and nonexcitable cells
  • directly modulates the function of the cardiac ryanodine receptor 2 Ca(2+) release channel, which in turn controls store-overload-induced Ca(2+) release from the SR
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • part of TRIC channels that are likely to act as counter-ion channels that function in synchronization with Ca2+ release from intracellular stores
  • constituent of the skeletal muscle SR (sarcoplasmic reticulum)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tric-a(-/-) mice display defective Ca(2+) sparks and spontaneous transient outward currents in arterial smooth muscle and develop hypertension, in addition to skeletal muscle dysfunction