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FLASH GENE
Symbol TMEM43 contributors: mct/npt - updated : 27-08-2012
HGNC name transmembrane protein 43
HGNC id 28472
Corresponding disease
ARVD5 arrhythmogenic right ventricular dysplasia, familial, 5
Location 3p25.1      Physical location : 14.166.439 - 14.185.180
Synonym symbol(s) MGC3222, DKFZp586G1919, ARVC5, ARVD5, LUMA
DNA
TYPE like-sequence
STRUCTURE 18.00 kb     12 Exon(s)
regulatory sequence Promoter
Binding site
text structure
  • contains a response element for PPARgamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium
    • MAPPING cloned Y linked N status
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 3254 44.8 400 - Merner (208)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestivemouth   highly
    Reproductivefemale systemuterus  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Muscularstriatumcardiacmyocardium  Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Tmem43
    Homologene
    FAMILY
  • TMEM43 family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    adipogenic pathway regulated by PPARgamma
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • target of PPARgamma
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARVD5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS