SLC22A16
Solute Carrier Family 22 Member 16
Gene Information Card
| Symbol | SLC22A16 |
|---|---|
| Full Name | solute carrier family 22 member 16 |
| Gene Type | protein-coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 85413 ncbi.nlm.nih.gov/gene/85413 |
| Ensembl ID | ENSG00000100099 |
| UniProt ID | Q86VW1 |
| OMIM ID | 611696 |
| HGNC ID | 20375 |
| Aliases | OCT6, CT2, FLJ20192 |
Description
SLC22A16 (solute carrier family 22 member 16) is a protein-coding gene located on chromosome 6q21. It encodes a member of the organic cation transporter family, specifically an organic cation/carnitine transporter. The protein mediates the transport of organic cations and carnitine, playing a role in cellular uptake of these compounds. It is expressed in various tissues including testis, bone marrow, and fetal liver.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carnitine deficiency | Impaired carnitine transport due to SLC22A16 variants | PMID: 15159317 |
| Chemotherapy-induced toxicity | Altered transport of anticancer drugs (e.g., doxorubicin) | PMID: 16951132 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone marrow | 8.2 | Low |
| Fetal liver | 6.1 | Low |
| Kidney | 4.3 | Low |
| Liver | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression in transfected cells |
| K562 | 7.5 | Moderate expression |
| HepG2 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.146C>T (p.Pro49Leu) | Missense | <0.01% | Reduced carnitine transport activity |
| c.754G>A (p.Gly252Arg) | Missense | <0.01% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
p.Pro49Leu reduces carnitine transport activity.
Gain of Function (GOF)
No known gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • drug transmembrane transporter activity (GO:0015238) | • carnitine transmembrane transporter activity (GO:0015226) |
| • antiporter activity (GO:0015297) | • carnitine transport (GO:0015888) |
| • organic cation transport (GO:0015695) | • integral component of membrane (GO:0016021) |
Pathways
• Carnitine shuttle (Reactome: R-HSA-8877627)
• Transport of organic cations (Reactome: R-HSA-549127)
Protein Summary
The SLC22A16 protein (UniProt Q86VW1) is a 551-amino acid multi-pass membrane protein belonging to the major facilitator superfamily. It functions as a sodium-independent organic cation/carnitine transporter, facilitating the uptake of carnitine and various organic cations including the anticancer drug doxorubicin. The protein is localized to the plasma membrane and is expressed in testis, bone marrow, and fetal liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC22A16 Knockout HEK293 Cell Line | EDJ-KQ9593 | Human | 85413 | Details Get a Quote |
| SLC22A16 Knockout HeLa Cell Line | EDJ-KQ57710 | Human | 85413 | Details Get a Quote |
| SLC22A16 Knockout A-549 Cell Line | EDJ-KQ66212 | Human | 85413 | Details Get a Quote |
| SLC22A16 Knockout HCT 116 Cell Line | EDJ-KQ74636 | Human | 85413 | Details Get a Quote |
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