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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
Location 19p13.2      Physical location : 10.713.120 - 10.755.234
Synonym name choline trasporter-like protein 2
Synonym symbol(s) CTL2, PP1292, FLJ44586, DKFZp666A071
DNA
TYPE functioning gene
STRUCTURE 42.12 kb     22 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
22 - 3434 - 706 - Greinacher (2010)
22 - 3375 80 704 - Traiffort (2005)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Hearing/Equilibriumearinner   
Visualeye    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier/liningretinal pigment epithelium (RPE)  
cell lineage
cell lines
fluid/secretion
at STAGE
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