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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)
    Physical map
    FLJ20850 19p13.11 hypothetical protein FLJ20850 CRLF1 19p12 cytokine receptor-like factor 1 C19orf4 19p12 chromosome 19 open reading frame 4 FLJ11078 19p13.11 hypothetical protein FLJ11078 MECT1 19p13 mucoepidermoid carcinoma translocated 1 COMP 19p13.1 cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) RENT1 19p13.2-p13.11 regulator of nonsense transcripts 1 GDF1 19p13.1-p12 growth differentiation factor 1 LASS1-GDF1 19p12 LAG1 longevity assurance homolog 1 (S. cerevisiae), growth differentiation factor 1 transcription unit LASS1 19p13.1-p12 LAG1 longevity assurance homolog 1 (S. cerevisiae) LOC388518 19 LOC388518 COPE 19p13.1 coatomer protein complex, subunit epsilon DDX49 19p12 DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 HOMER3 19p13.11 homer homolog 3 (Drosophila) SFRS14 19p12-p11 splicing factor, arginine/serine-rich 14 MGC19595 19p13.11 hypothetical gene MGC19595 MGC26694 19p13.11 hypothetical protein MGC26694 FLJ20422 19p13.11 hypothetical protein FLJ20422 MEF2B 19p12 MADS box transcription enhancer factor 2, polypeptide B (myocyte enhancer factor 2B) RFXANK 19p12 regulatory factor X-associated ankyrin-containing protein TRA16 19p13.11 TR4 orphan receptor associated protein TRA16 CSPG3 19p12 chondroitin sulfate proteoglycan 3 (neurocan) TM6SF2 19p13.3-p12 transmembrane 6 superfamily member 2 SF4 19p13 splicing factor 4 KIAA0892 19p13.11 KIAA0892 p66alpha 19p13.11 p66 alpha CLIP-2 19p13.11 cartilage intermediate layer protein-like protein 2 SSTK 19p13.11 serine/threonine protein kinase SSTK GRIM19 19p13.2 serine/threonine protein kinase SSTK FLJ44968 19p13.11 FLJ44968 protein PBX4 19p12 pre-B-cell leukemia transcription factor 4 EDG4 19p12 endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4 GMIP 19p11-p12 Gem-interacting protein CGI-152 HZF12 ZNF14 19p13.3-p13.2 zinc finger protein 14 (KOX 6) LOC390898 19 similar to sorting nexin associated golgi protein 1 MGC39821 19p13.11 hypothetical protein MGC39821 ZNF506 19p13.11 zinc finger protein 506 LOC390899 19 similar to hypothetical protein FLJ12488
    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