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Symbol SLC22A5 contributors: mct/shn - updated : 17-06-2010
HGNC name solute carrier family 22 (organic cation/carnitine transporter), member 5
HGNC id 10969
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
Physical map
SPEC2 5q31 KIAA1061 protein PDZGEF2 5q31.1 PDZ domain containing guanine nucleotide exchange factor (GEF) 2 ACTBP4 5q23.3 actin, beta pseudogene 4 FACL6 5q31 fatty-acid-Coenzyme A ligase, long-chain 6 IL3 5q31.1 interleukin 3 (colony-stimulating factor, multiple) CSF2 5q31.1 colony stimulating factor 2 (granulocyte-macrophage) LOC389325 5 LOC389325 P4HA2 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II RIL 5q31.1 procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II SLC22A4 5q31.2 solute carrier family 22 (organic cation transporter), member 4 SLC22A5 5q31.1-q32 solute carrier family 22 (organic cation transporter), member 5 LOC389326 5 hypothetical gene supported by AK096941; AK128882 IRF1 5q31.1 interferon regulatory factor 1 IL5 5q31.1 interleukin 5 (colony-stimulating factor, eosinophil) RAD50 5q31 RAD50 homolog (S. cerevisiae) IL13 5q31.1 interleukin 13 IL4 5q31.1 interleukin 4 KIF3A 5q31 kinesin family member 3A SEPT8 5q31 kinesin family member 3A LOC134548 5q31.1 hypothetical protein LOC134548 APXL2 5q31.1 hypothetical protein LOC134548 GDF9 5q31.1 growth differentiation factor 9 QP-C 5q31.1 low molecular mass ubiquinone-binding protein (9.5kD) LEAP-2 5q31.1 liver-expressed antimicrobial peptide 2 AF5Q31 5q31 liver-expressed antimicrobial peptide 2 LOC389327 5 hypothetical gene supported by AK129671 LOC391832 5 similar to putative nucleic acid binding protein RY-1 FLJ20094 5q31.1 hypothetical protein FLJ20094 HSPA4 5q31.1-q32 heat shock 70kDa protein 4 KIAA1061 5q31.1 KIAA1061 protein
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 3295 70 557 expression in human corneal and conjunctival epithelial cells 2008 18641280
Type ubiquitous
   expressed in (based on citations)
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
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly Homo sapiens
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
  • twelve transmembrane domains (12TM)
  • cytoplasmic N and C termini
  • one nucleotide (ATP/GTP) binding site motif
    interspecies ortholog to Slc22a5, Mus musculus
    ortholog to Slc22a5, Rattus norvegicus
    intraspecies homolog to OCTN1
  • solute carrier family 22, organic cation, sugar transporter family
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
    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
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    a component
    small molecule
  • PDZ domain containing 1 , PDZK1
  • cell & other
    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)
    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
    Therapy target
  • 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