SLC10A2 (Solute Carrier Family 10 Member 2)
Ileal Sodium/Bile Acid Cotransporter
Gene Information Card
| Symbol | SLC10A2 |
|---|---|
| Full Name | Solute Carrier Family 10 Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q33.1 |
| NCBI Gene ID | 6555 ncbi.nlm.nih.gov/gene/6555 |
| Ensembl ID | ENSG00000125257 |
| UniProt ID | Q12908 |
| OMIM ID | 601295 |
| HGNC ID | 10981 |
| Aliases | IBAT, ASBT, NTCP2, ISBT |
Description
SLC10A2 encodes the ileal sodium/bile acid cotransporter (IBAT), a transmembrane protein responsible for the sodium-dependent reabsorption of bile acids from the intestinal lumen into enterocytes. This transporter is critical for enterohepatic circulation of bile acids and maintenance of bile acid homeostasis. Mutations in SLC10A2 cause primary bile acid malabsorption (PBAM), leading to chronic diarrhea and fat malabsorption.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Bile Acid Malabsorption (PBAM) | Loss-of-function mutations impair bile acid reabsorption, causing bile acid loss in stool and diarrhea. | ClinVar, OMIM |
| Crohn's Disease (associated) | Reduced SLC10A2 expression in ileum may contribute to bile acid malabsorption in inflammatory bowel disease. | NCBI Gene, PubMed |
| Hypertriglyceridemia (possible) | Altered bile acid pool due to transporter dysfunction may affect lipid metabolism. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ileum | 57.8 | High |
| Gallbladder | 12.3 | Medium |
| Kidney | 8.9 | Medium |
| Liver | 0.5 | Low |
| Colon | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Caco-2 (intestinal) | 15.2 | Enterocyte-like model |
| HepG2 (liver) | 0.3 | Low expression |
| HEK293 (embryonic kidney) | 0.1 | Minimal endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.728G>A (p.Arg243His) | Missense | Rare | Loss of function; reduced bile acid transport |
| c.1043C>T (p.Pro348Leu) | Missense | Rare | Loss of function; impaired membrane localization |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein synthesis |
Mutation functional classification
Loss of Function (LOF)
Most reported SLC10A2 mutations are loss-of-function, reducing or abolishing bile acid transport activity.
Gain of Function (GOF)
No gain-of-function mutations reported in SLC10A2.
Dominant Negative (DN)
No dominant-negative mutations reported; PBAM is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • bile acid:sodium symporter activity (GO:0008508) | • bile acid transport (GO:0015721) |
| • symporter activity (GO:0015293) | • integral component of plasma membrane (GO:0005887) |
| • transmembrane transport (GO:0055085) |
Pathways
• Bile acid and bile salt metabolism (Reactome: R-HSA-194068)
• Transport of bile salts (Reactome: R-HSA-159418)
• SLC-mediated transmembrane transport (Reactome: R-HSA-425407)
Protein Summary
The SLC10A2 protein (IBAT) is a 348-amino acid integral membrane glycoprotein with 7 transmembrane domains. It localizes to the apical membrane of ileal enterocytes and proximal renal tubule cells. The protein mediates electrogenic sodium-coupled bile acid uptake with a 2:1 Na+:bile acid stoichiometry. Its structure includes a conserved sodium-binding motif and bile acid-binding pocket critical for transport function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC10A2 Knockout HEK293 Cell Line | EDJ-KQ2765 | Human | 6555 | Details Get a Quote |
| SLC10A2 Knockout HeLa Cell Line | EDJ-KQ54504 | Human | 6555 | Details Get a Quote |
| SLC10A2 Knockout A-549 Cell Line | EDJ-KQ62989 | Human | 6555 | Details Get a Quote |
| SLC10A2 Knockout HCT 116 Cell Line | EDJ-KQ71460 | Human | 6555 | Details Get a Quote |
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