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FLASH GENE
Symbol SLC44A2 contributors: mct/npt - updated : 19-04-2010
HGNC name solute carrier family 44, member 2
HGNC id 17292
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • ten transmembrane domains
  • 11 highly conserved cysteines
    • HOMOLOGY
    intraspecies homolog to CTL1, CTL4
    Homologene
    FAMILY
  • choline transporter-like (CTL) family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • multi-transmembrane protein expressed on inner ear supporting cells that was discovered as a target of antibody-induced hearing loss (Kommareddi 2007)
    • 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 transfusion-related acute lung injury
  • to Venous thromboembolism (VTE)
    • Variant & Polymorphism SNP
  • in exon 7 of SLC44A2 that predicts an amino acid substitution in the first extracellular loop of SLC44A2, correlated perfectly with HNA-3a/b phenotypes (R154 encodes HNA-3a; Q154 encodes HNA-3b) leading to to transfusion-related acute lung injury (Curtis 2010)
  • association for SLC44A2 rs2288904 with Venous thromboembolism (VTE)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS