SLC16A12: Solute Carrier Family 16 Member 12
Monocarboxylate transporter 12 (MCT12) - kidney and eye expression
Gene Information Card
| Symbol | SLC16A12 |
|---|---|
| Full Name | Solute Carrier Family 16 Member 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q23.33 |
| NCBI Gene ID | 387700 ncbi.nlm.nih.gov/gene/387700 |
| Ensembl ID | ENSG00000152778 |
| UniProt ID | Q6ZSM3 |
| OMIM ID | 611910 |
| HGNC ID | 23023 |
| Aliases | MCT12, MCT-12 |
Description
SLC16A12 (Solute Carrier Family 16 Member 12) encodes monocarboxylate transporter 12 (MCT12), a proton-coupled transporter of monocarboxylates such as lactate and pyruvate. MCT12 is highly expressed in kidney proximal tubules and lens epithelium, where it mediates the efflux of metabolic waste and contributes to lens transparency. Mutations in SLC16A12 are associated with autosomal dominant juvenile cataract and renal glycosuria.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Juvenile cataract with microcornea and renal glycosuria | Loss-of-function mutations impair lactate/pyruvate transport in lens and kidney, leading to cataract formation and glycosuria | OMIM #612018; PMID 17632513 |
| Cataract 47 (CTRCT47) | Dominant negative or haploinsufficiency disrupts lens epithelial cell homeostasis | ClinVar; PMID 17632513 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Eye (lens) | 8.3 | Medium |
| Liver | 2.1 | Low |
| Brain | 1.4 | Low |
| Heart | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| HK-2 (kidney proximal tubule) | 9.8 | Endogenous expression |
| HepG2 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.254C>T (p.Pro85Leu) | Missense | Rare | Impaired transport activity; cataract |
| c.449G>A (p.Arg150Gln) | Missense | Rare | Reduced lactate uptake; cataract |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss of protein expression; cataract |
Mutation functional classification
Loss of Function (LOF)
p.Met1Val and p.Pro85Leu reduce or abolish monocarboxylate transport.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
p.Arg150Gln may exert dominant-negative effect on wild-type MCT12.
View complete mutation data：
Gene Ontology (GO)
| • GO:0015171 - amino acid transmembrane transporter activity | • GO:0015718 - monocarboxylate transport |
| • GO:0015293 - symporter activity | • GO:0005886 - plasma membrane |
| • GO:0070062 - extracellular exosome |
Pathways
• Monocarboxylate transport (Reactome R-HSA-433137)
• SLC-mediated transmembrane transport (Reactome R-HSA-425407)
Protein Summary
MCT12 is a 12-transmembrane domain protein of ~55 kDa, localized to the plasma membrane. It functions as a proton-coupled monocarboxylate symporter, facilitating the efflux of lactate and pyruvate. In the lens, MCT12 is essential for maintaining metabolic homeostasis and transparency. In the kidney, it participates in reabsorption of monocarboxylates and glucose.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC16A12 Knockout HEK293 Cell Line | EDJ-KQ15299 | Human | 387700 | Details Get a Quote |
| SLC16A12 Knockout HeLa Cell Line | EDJ-KQ59983 | Human | 387700 | Details Get a Quote |
| SLC16A12 Knockout A-549 Cell Line | EDJ-KQ68445 | Human | 387700 | Details Get a Quote |
| SLC16A12 Knockout HCT 116 Cell Line | EDJ-KQ76822 | Human | 387700 | Details Get a Quote |
| SLC16A12 Knockout Huh-7 Cell Line | EDC08242 | Human | 387700 | Details Get a Quote |
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