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FLASH GENE
Symbol TM6SF2 contributors: mct - updated : 22-11-2016
HGNC name transmembrane 6 superfamily member 2
HGNC id 11861
Location 19p13.3-p12      Physical location : 19.375.173 - 19.384.074
Synonym symbol(s) KIAA1926
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text
  • component of a cluster of paralogous genes on chromosome 19
    • STRUCTURE 8.00 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - ARID3A - BTBD2 - D19S209 - EEF2 - SH3GL1 - D19S212 - D19S226 - SIN3B - D19S899 - MEF2B - CSPG3 - TM6SF2 - D19S407 - cen
    Authors Carim-todd (00)
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  predominantly
     intestinelarge intestinecolon lowly
     liver   lowly
    Reproductivefemale systemovary  lowly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six transmembrane domains
    • HOMOLOGY
    interspecies homolog to chimpanzee TM6SF2 (99.7 pc)
    homolog to murine Tm6sf2 (79 pc)
    intraspecies paralog to TM6SF1
    Homologene
    FAMILY
  • transmembrane 6 superfamily
  • TM6SF family
    • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to non-alcoholic fatty liver disease (NAFLD)
    Variant & Polymorphism SNP
  • TM6SF2 p.E167K variants represent genetic risk factors for non-alcoholic fatty liver disease (NAFLD)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS