SLC5A12: Solute Carrier Family 5 Member 12
Sodium-coupled monocarboxylate transporter involved in renal and intestinal transport
Gene Information Card
| Symbol | SLC5A12 |
|---|---|
| Full Name | Solute Carrier Family 5 Member 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p14.2 |
| NCBI Gene ID | 159963 ncbi.nlm.nih.gov/gene/159963 |
| Ensembl ID | ENSG00000148935 |
| UniProt ID | Q1EHB4 |
| OMIM ID | 613933 |
| HGNC ID | 28757 |
| Aliases | SMCT2, FLJ42957 |
Description
SLC5A12 encodes a sodium-coupled monocarboxylate transporter (SMCT2) that mediates the electrogenic transport of short-chain fatty acids and lactate across the plasma membrane. It is primarily expressed in kidney proximal tubules and intestinal epithelium, playing a role in metabolite reabsorption and homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Renal tubular dysfunction | Impaired lactate and short-chain fatty acid reabsorption due to loss of SLC5A12 function | ClinVar, OMIM |
| Inflammatory bowel disease | Altered intestinal monocarboxylate transport may affect gut barrier and inflammation | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Small intestine | 8.3 | Low |
| Colon | 6.1 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| Caco-2 | 9.8 | Intestinal model |
| HK-2 | 11.4 | Kidney proximal tubule |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function |
| c.782G>A (p.Arg261His) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants predicted to truncate the transporter, impairing sodium-coupled monocarboxylate uptake.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative mechanisms described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005215 - transporter activity | • GO:0015293 - symporter activity |
| • GO:0015718 - monocarboxylate transport | • GO:0005887 - integral component of plasma membrane |
| • GO:0055085 - transmembrane transport |
Pathways
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
• Transport of inorganic cations/anions and amino acids/oligopeptides (Reactome: R-HSA-425393)
Protein Summary
SLC5A12 (SMCT2) is a 618-amino acid transmembrane protein with 13 predicted helical domains. It functions as a sodium-coupled symporter for monocarboxylates such as lactate, pyruvate, and short-chain fatty acids. The protein is localized to the apical membrane of renal proximal tubule cells and intestinal enterocytes, facilitating metabolite reabsorption.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC5A12 Knockout HEK293 Cell Line | EDJ-KQ15281 | Human | 159963 | Details Get a Quote |
| SLC5A12 Knockout HeLa Cell Line | EDJ-KQ58806 | Human | 159963 | Details Get a Quote |
| SLC5A12 Knockout A-549 Cell Line | EDJ-KQ67290 | Human | 159963 | Details Get a Quote |
| SLC5A12 Knockout HCT 116 Cell Line | EDJ-KQ75690 | Human | 159963 | Details Get a Quote |
| SLC5A12 Knockout Huh-7 Cell Line | EDC07827 | Human | 80211 | Details Get a Quote |
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