SLC22A5

SLC22A5
Identifiers
Aliases	SLC22A5, CDSP, OCTN2, solute carrier family 22 member 5
External IDs	OMIM: 603377; MGI: 1329012; HomoloGene: 68295; GeneCards: SLC22A5; OMA:SLC22A5 - orthologs
Gene location (Human)
Chr.	Chromosome 5 (human)
End	132,395,613 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	53,782,486 bp
RNA expression pattern
	Top expressed in
	gastrocnemius muscle; ; mucosa of transverse colon; ; mucosa of ileum; ; jejunal mucosa; ; muscle of thigh; ; right uterine tube; ; human kidney; ; right hemisphere of cerebellum; ; apex of heart; ; tibialis anterior muscle;
	Top expressed in
	right kidney; ; human kidney; ; proximal tubule; ; duodenum; ; decidua; ; spermatocyte; ; choroid plexus of fourth ventricle; ; muscle of thigh; ; spermatid; ; blastocyst;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; PDZ domain binding; transmembrane transporter activity; transporter activity; protein binding; quaternary ammonium group transmembrane transporter activity; symporter activity; ATP binding; xenobiotic transmembrane transporter activity; organic anion transmembrane transporter activity; carnitine transmembrane transporter activity;
Cellular component	integral component of membrane; membrane; plasma membrane; integral component of plasma membrane; brush border membrane; apical plasma membrane; extracellular exosome;
Biological process	sodium ion transport; quaternary ammonium group transport; ion transport; sodium-dependent organic cation transport; positive regulation of intestinal epithelial structure maintenance; carnitine transport; carnitine metabolic process; xenobiotic transmembrane transport; transmembrane transport; organic anion transport; carnitine transmembrane transport; transport; xenobiotic transport;
	Sources:Amigo / QuickGO
Orthologs
	6584
	20520
	ENSG00000197375
	ENSMUSG00000018900
	O76082
	Q9Z0E8
	NM_001308122; NM_003060
	NM_011396; NM_001362711; NM_001362712
	NP_001295051; NP_003051
	NP_035526; NP_001349640; NP_001349641
	Wikidata
View/Edit Human	View/Edit Mouse

SLC22A5 is a membrane transport protein associated with primary carnitine deficiency. This protein is involved in the active cellular uptake of carnitine. It acts a symporter, moving sodium ions and other organic cations across the membrane along with carnitine. Such polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for the elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. Mutations in the SLC22A5 gene cause systemic primary carnitine deficiency, which can lead to heart failure.