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FLASH GENE
Symbol TMEM38B contributors: mct - updated : 10-11-2015
HGNC name transmembrane protein 38B
HGNC id 25535
Corresponding disease
OIXIV osteogenesis imperfecta, type XIV
Location 9q31.2      Physical location : 108.456.824 - 108.537.444
Synonym name
  • trimeric intracellular cation channels (TRIC)B
    • Synonym symbol(s) C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1
    DNA
    TYPE functioning gene
    STRUCTURE 82.09 kb     6 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3558 - 291 - 2013 23316006
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • expressed in the endoplasmic reticulum (ER) of all tissues
    • basic FUNCTION
  • TMEM38A, TMEM38B channels are likely to act as counter-ion channels that function in synchronization with Ca2+ release from intracellular stores
  • TMEM38B channels take an active part in Ca(2+) signalling to establish specialised functions in type II cells and are thus essential for perinatal lung maturation
  • leads to compromised K(+) permeation and Ca(2+) release across the SR/ER membrane
  • may also function as accessory proteins that directly modulate the ryanodine receptor/IP3 receptor channel functions
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OIXIV
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Tric-B-knockout neonates were cyanotic owing to respiratory failure and died shortly after birth