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FLASH GENE
Symbol TMTC2 contributors: mct - updated : 06-12-2016
HGNC name transmembrane and tetratricopeptide repeat containing 2
HGNC id 25440
Location 12q21.31      Physical location : 83.080.933 - 83.528.063
Synonym symbol(s) IBDBP1
DNA
TYPE functioning gene
STRUCTURE 447.92 kb     12 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 5431 - 836 - 2014 24764305
11 - 4860 - 591 - 2014 24764305
6 - 2545 - 637 - 2014 24764305
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal ER targeting signal sequences and multiple hydrophobic segments, suggestive of polytopic membrane proteins that are targeted to the secretory pathway
  • HOMOLOGY
    Homologene
    FAMILY TMTC family
    CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    text
  • TMTC1 and TMTC2 are ER membrane proteins that interact with the ER calcium uptake pump SERCA2B (both) and calnexin (TMTC2 only)
  • basic FUNCTION
  • TMTC1 and TMTC2 are ER proteins involved in ER calcium homeostasis
  • likely TMTC1, TMTC2, TMTC3 actively participate in ER function and homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • candidate for causing progressive Nonsyndromic Sensorineural Hearing Loss, autosomal dominant
  • Marker
    Therapy target
    ANIMAL & CELL MODELS