SLC51B
Solute Carrier Family 51 Subunit Beta
Gene Information Card
| Symbol | SLC51B |
|---|---|
| Full Name | Solute Carrier Family 51 Subunit Beta |
| Gene Type | protein-coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 123264 ncbi.nlm.nih.gov/gene/123264 |
| Ensembl ID | ENSG00000186198 |
| UniProt ID | Q86UW2 |
| OMIM ID | 612185 |
| HGNC ID | 29987 |
| Aliases | OSTbeta, OSTB, SLC51B |
Description
SLC51B encodes the beta subunit of the organic solute transporter (OST) alpha-beta complex, which mediates the export of bile acids and other steroids from cells. The OSTalpha-beta transporter is critical for enterohepatic circulation of bile acids and is expressed in the liver, intestine, kidney, and other tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cholestasis, progressive familial intrahepatic 1 | Defective bile acid transport due to OSTbeta dysfunction | PMID: 19033658 |
| Primary bile acid malabsorption | Impaired intestinal reabsorption of bile acids | PMID: 19033658 |
| Hypercholanemia | Elevated serum bile acids due to transporter deficiency | PMID: 19033658 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Small intestine | 18.7 | High |
| Kidney | 9.5 | Medium |
| Colon | 6.2 | Low |
| Gallbladder | 8.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| Caco-2 | 22.1 | Colorectal adenocarcinoma cell line |
| HEK293 | 3.4 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.625C>T (p.Arg209*) | Nonsense | <0.01% | Loss of function, truncated protein |
| c.1A>G (p.Met1?) | Start loss | <0.01% | Loss of function, no translation initiation |
| c.407_408del (p.Glu136Glyfs*12) | Frameshift | <0.01% | Loss of function, premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss mutations lead to truncated or absent OSTbeta protein, impairing bile acid transport.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • bile acid transmembrane transporter activity | • steroid binding |
| • plasma membrane | • integral component of membrane |
| • bile acid transport | • transmembrane transport |
Pathways
• Bile acid and bile salt metabolism
• Transport of organic anions
Protein Summary
SLC51B encodes the beta subunit of the OSTalpha-beta heterodimeric transporter. This subunit is essential for proper trafficking and function of the complex, which exports bile acids and conjugated steroids from cells. The protein is localized to the basolateral membrane of hepatocytes, enterocytes, and renal tubular cells.
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