SLC16A9: Monocarboxylate Transporter 9 (MCT9)
Solute Carrier Family 16 Member 9 – Genetic Variants, Expression, and Disease Associations
Gene Information Card
| Symbol | SLC16A9 |
|---|---|
| Full Name | Solute Carrier Family 16 Member 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.2 |
| NCBI Gene ID | 220963 ncbi.nlm.nih.gov/gene/220963 |
| Ensembl ID | ENSG00000165496 |
| UniProt ID | Q7Z7H8 |
| OMIM ID | 611645 |
| HGNC ID | 23023 |
| Aliases | MCT9, MCT-9, monocarboxylate transporter 9 |
Description
SLC16A9 encodes monocarboxylate transporter 9 (MCT9), a member of the solute carrier family 16. MCT9 is a proton-coupled transporter involved in the cellular uptake of monocarboxylates such as lactate, pyruvate, and ketone bodies. It also mediates carnitine transport. Genetic variants in SLC16A9 are associated with altered serum uric acid levels and renal hypouricemia. The gene is expressed in kidney, liver, and brain, and its dysregulation has been implicated in metabolic disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal hypouricemia | Loss-of-function variants impair urate transport, leading to low serum uric acid and increased risk of exercise-induced acute kidney injury. | ClinVar, OMIM #611645 |
| Hyperuricemia / gout | Common variants (e.g., rs2242206) are associated with elevated serum uric acid levels and gout risk. | GWAS, NCBI dbSNP |
| Carnitine deficiency | Impaired carnitine transport due to SLC16A9 dysfunction may contribute to systemic carnitine deficiency. | UniProt annotation |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Heart | 4.2 | Low |
| Skeletal muscle | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| HepG2 | 9.7 | Moderate endogenous expression |
| SH-SY5Y | 5.4 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124G>A (p.Gly42Arg) | Missense | <0.01% | Reduced urate transport activity; associated with renal hypouricemia |
| c.487C>T (p.Arg163Trp) | Missense | <0.01% | Loss of function; reported in hypouricemia patients |
| rs2242206 (intronic) | SNP | ~30% (Asian) | Associated with increased serum uric acid levels |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Gly42Arg, p.Arg163Trp) impair monocarboxylate/urate transport, leading to renal hypouricemia.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
Not described for SLC16A9.
View complete mutation data：
Gene Ontology (GO)
| • amino acid transmembrane transporter activity (GO:0015171) | • symporter activity (GO:0015293) |
| • monocarboxylate transport (GO:0015718) | • carnitine transport (GO:0015879) |
| • transmembrane transport (GO:0055085) | • plasma membrane (GO:0005886) |
| • integral component of membrane (GO:0016021) |
Pathways
• Transport of monocarboxylates (Reactome: R-HSA-425366)
• Carnitine shuttle (Reactome: R-HSA-1483196)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
MCT9 (UniProt Q7Z7H8) is a 12-transmembrane domain protein of 487 amino acids. It functions as a proton-coupled monocarboxylate transporter, with substrate preference for lactate, pyruvate, and carnitine. The protein is localized to the plasma membrane and is highly expressed in kidney proximal tubules, where it mediates urate reabsorption. Structural modeling suggests a conserved substrate-binding pocket. Post-translational modifications include N-glycosylation at Asn57.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC16A9 Knockout HEK293 Cell Line | EDJ-KQ8785 | Human | 220963 | Details Get a Quote |
| SLC16A9 Knockout HCT 116 Cell Line | EDJ-KQ35061 | Human | 220963 | Details Get a Quote |
| SLC16A9 Knockout HeLa Cell Line | EDJ-KQ59146 | Human | 220963 | Details Get a Quote |
| SLC16A9 Knockout A-549 Cell Line | EDJ-KQ67620 | Human | 220963 | Details Get a Quote |
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