SLC22A5 (Solute Carrier Family 22 Member 5)
OCTN2: Primary Carnitine Deficiency Gene
Gene Information Card
| Symbol | SLC22A5 |
|---|---|
| Full Name | Solute Carrier Family 22 Member 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 5q31.1 |
| NCBI Gene ID | 6584 ncbi.nlm.nih.gov/gene/6584 |
| Ensembl ID | ENSG00000197375 |
| UniProt ID | O76082 |
| OMIM ID | 603377 |
| HGNC ID | 10969 |
| Aliases | OCTN2, CDSP, SLC22A5 |
Description
SLC22A5 (Solute Carrier Family 22 Member 5) encodes the organic cation/carnitine transporter 2 (OCTN2), a sodium-dependent transporter that mediates high-affinity carnitine uptake into cells. Carnitine is essential for mitochondrial fatty acid oxidation. Loss-of-function mutations in SLC22A5 cause primary carnitine deficiency (OMIM #212140), a disorder of fatty acid metabolism characterized by cardiomyopathy, myopathy, and hypoglycemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Carnitine Deficiency | Loss-of-function mutations impair carnitine transport, leading to reduced intracellular carnitine and defective fatty acid oxidation. | ClinVar, OMIM #212140 |
| Systemic Carnitine Deficiency | Same mechanism as primary carnitine deficiency; autosomal recessive inheritance. | OMIM #212140 |
| Cardiomyopathy, Dilated | Secondary to carnitine deficiency; carnitine supplementation can improve cardiac function. | ClinVar, PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.8 | High |
| Heart | 10.5 | High |
| Skeletal Muscle | 9.2 | High |
| Liver | 6.1 | Medium |
| Small Intestine | 5.4 | Medium |
| Brain | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in recombinant systems |
| HepG2 | 8.7 | Hepatocyte model |
| Caco-2 | 6.5 | Intestinal epithelial model |
| SH-SY5Y | 2.1 | Neuroblastoma line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.760C>T (p.Arg254*) | Nonsense | ~30% in European patients | Loss of function; truncation |
| c.1400C>G (p.Ser467Cys) | Missense | ~10% in Asian patients | Impaired carnitine transport |
| c.396G>A (p.Trp132*) | Nonsense | Rare | Loss of function |
| c.1195C>T (p.Arg399Trp) | Missense | Rare | Reduced carnitine affinity |
Mutation functional classification
Loss of Function (LOF)
Most SLC22A5 mutations are loss-of-function, reducing or abolishing carnitine transport activity, leading to primary carnitine deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • transporter activity (GO:0005215) | • carnitine transmembrane transporter activity (GO:0015226) |
| • carnitine transport (GO:0015879) | • integral component of plasma membrane (GO:0005887) |
| • integral component of membrane (GO:0016021) | • mitochondrion (GO:0005739) |
Pathways
• Carnitine shuttle (Reactome: R-HSA-200425)
• Fatty acid metabolism (KEGG: hsa00071)
• Transport of organic cations (Reactome: R-HSA-549127)
Protein Summary
OCTN2 (O76082) is a 557-amino acid transmembrane protein with 12 predicted helices. It functions as a sodium-dependent, high-affinity carnitine transporter. The protein is expressed in kidney, heart, skeletal muscle, and placenta. Mutations disrupt carnitine reabsorption in the kidney and uptake into tissues, causing systemic carnitine deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A5 Knockout HEK293 Cell Line | EDJ-KQ2411 | Human | 6584 | Details Get a Quote |
| SLC22A5 Knockout HCT 116 Cell Line | EDJ-KQ21586 | Human | 6584 | Details Get a Quote |
| SLC22A5 Knockout A-549 Cell Line | EDJ-KQ22910 | Human | 6584 | Details Get a Quote |
| SLC22A5 Knockout HeLa Cell Line | EDJ-KQ22912 | Human | 6584 | Details Get a Quote |
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