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FLASH GENE
Symbol SLC22A5 contributors: mct/shn - updated : 17-06-2010
HGNC name solute carrier family 22 (organic cation/carnitine transporter), member 5
HGNC id 10969
Corresponding disease
CDSP carnitine deficiency, systemic primary
Location 5q31.1      Physical location : 131.705.400 - 131.731.302
Synonym name
  • high-affinity carnitine transporter 2
  • organic cation/carnitine transporter 2
    • Synonym symbol(s) FLJ46769, OCTN2, OCTN2VT, SCD
    DNA
    TYPE functioning gene
    STRUCTURE 25.91 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status confirmed
    Map cen - D5S2057 - D5S1984 - SLC22A5 - D5S2002 - D5S2497 - qter
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 3295 70 557 expression in human corneal and conjunctival epithelial cells 2008 18641280
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly Homo sapiens
    Digestiveintestine   highly Homo sapiens
     liver   highly Homo sapiens
    Endocrineadrenal gland   lowly
     pancreas   highly
    Hearing/Equilibriumear   highly
    Lymphoid/Immunethymus   moderately
    Nervousbrain   highly Homo sapiens
     spinal cord   moderately
    Reproductivefemale systemplacenta  highly
     female systemuteruscervix highly
     male systemprostate  lowly
     male systemtestis  lowly
    Respiratorylung   lowly
     respiratory tracttrachea  moderately
     respiratory tractlarynx  highly
    Urinarykidney   highly Homo sapiens
    Visualeyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Muscularstriatumskeletal highly Homo sapiens
    Nervouscentral   
    cell lineage OCTN2 mRNA expression was detected in cultured human corneal-limbal epithelial (HCLE) and human conjunctival epithelial (HCjE) cells of rabbits and humans
    cell lines
  • expressed in CD68 macrophage and CD43 T-cells
  • expressed in PG362, A549, SW480, Raji, MOLT-4, K-562, Hela and HL-60 cancer lines cells
    • fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text kidney, liver, lung, brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • twelve transmembrane domains (12TM)
  • cytoplasmic N and C termini
  • one nucleotide (ATP/GTP) binding site motif
    • HOMOLOGY
    interspecies ortholog to Slc22a5, Mus musculus
    ortholog to Slc22a5, Rattus norvegicus
    intraspecies homolog to OCTN1
    Homologene
    FAMILY
  • solute carrier family 22, organic cation, sugar transporter family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text localization at the basolateral membrane and in the cytoplasmic region in the vicinity of nuclei (suggesting that carnitine can be also transported from the brain, playing an important role in removal of certain acyl esters)
    basic FUNCTION
  • polyspecific transporter of organic cations, sodium ion dependent
  • high affinity carnitine transporter plasmalemmal, involved in the active cellular uptake of carnitine
  • can contribute to the cardiac uptake of cardiovascular drugs
  • may be playing a significant role in transport of carnitine in occular tissues and an intrinsic homeostatic role for carnitine in eye
  • may mediate most maternofetal carnitine transport in humans
  • transporter that is thought to be responsible for the accumulation of L-carnitine in the epididymal lumen, is regulated in response to changes in tonicity
  • involved in the transport of acetyl-L-carnitine from the circulating blood to the retina across the inner blood-retinal barrier
  • most important carnitine transporter
  • can contribute to intestinal carnitine absorption and systemic carnitine homeostasis
  • assumed to transport carnitine into skeletal muscle cells
  • could be responsible for the regulation of carnitine uptake during muscle contraction
  • redistributed from an intracellular location to the surface of the muscle, indicating that it is translocated in contracting skeletal muscle to upregulate carnitine uptake in skeletal muscle
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PDZ domain containing 1 , PDZK1
    • cell & other
    REGULATION
    Other regulated by PDZ domain containing 1 , PDZK1
    regulated by PPARG (PPARG agonists thiazolidinediones increased both mRNA and protein expression in colonic epithelial cell lines independently by PPARA expression)
    ASSOCIATED DISORDERS
    corresponding disease(s) CDSP
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation deletion   loss of function
    -
    constitutional somatic mutation insertion   loss of function
    -
    Susceptibility to Crohn disease(see IBD5)
    Variant & Polymorphism other G>C transversion in the promoter increasing the susceptibility to Crohn disease
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • a missense mutation in the gene in jvs mice abrogated carnitine transport
  • Octn2 -/- mice developed enlarged fatty liver, steatosis of other organs, and hypertrophic cardiomyopathy, intestinal villous atrophy and intestinal breakdown and inflammation with intense lymphocyte and macrophage infiltration, leading to ulcer formation and gut perforation