Protein name: OCTN2 Aliases: CT1, CDSP Substrates: zwitterions (L-carnitine), organic cations Transport type: Cotransporter / Na+, L-carnitine, F / organic cations Tissue and cellular expression: skeletal muscle, kidney, prostate, lung, pancreas, heart, small intestine, adrenal gland, thyroid gland, liver, etc. Subcellular expression: apical membrane of proximal tubules (kidney) Disease: Primary systemic carnitine deficiency, Crohn?s disease Locus: 5q31 Sequence ID: NP_003051.1, NM_003060.3 Gene ID: 6584 Splice variants: N/D

S22A5_HUMAN (UniProt)

Gene names: SLC22A5, OCTN2
Protein names and data: S22A5_HUMAN, Full=Solute carrier family 22 member 5, Full=High-affinity sodium-dependent carnitine cotransporter;Full=Organic cation/carnitine transporter 2; Length: 557 a.a., Mass: 62752 Da,
fasta formatted sequence

Function: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells

Database cross-references

UniProt: O76082
NextBio: 25621
OMIM: 212140 603377
Ensembl: ENST00000435065
GeneCard: GC05P132369
TCDB: 2.A.1.19.3
PharmGenUCSF: SLC22A5
Guide to Pharmacology: SLC22A5 (1023)
Organic zwitterions/cation transporters (OCTN) (1023)

HGNC: HGNC:10969

Genetic variants

See also Ensembl:ENST00000435065