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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SLC51B
SLC51 subunit beta
Chromosome 15 · 15q22.31
NCBI Gene: 123264Ensembl: ENSG00000186198.5HGNC: HGNC:29956UniProt: Q86UW2
26PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
bile acid secretionprotein bindingbasolateral plasma membraneplasma membranebile acid malabsorption, primary, 2type 2 diabetes mellitusdiabetes mellituscholestasis
✦AI Summary

SLC51B encodes the beta subunit of the organic solute transporter α-β (OSTα-OSTβ) complex, a heteromeric transporter essential for bile acid homeostasis 1. The protein forms a functional complex with OSTα that operates via facilitated diffusion, mediating bidirectional transport across basolateral membranes of epithelial cells depending on electrochemical gradients 1. This transporter is crucial for intestinal bile acid absorption, particularly at the terminal ileum, where it exports bile acids from enterocytes into portal circulation 2. Beyond bile acids, SLC51B facilitates transport of conjugated steroids including estrone sulfate, with recent evidence showing HNF1A regulates SLC51B expression to control estrone sulfate uptake in renal proximal tubule cells 3. Loss-of-function mutations in SLC51B cause primary bile acid malabsorption type 2, characterized by chr15 diarrhea, fat-soluble vitamin deficiency, and cholestatic liver features 4. The transporter's expression is regulated by farnesoid X receptor (FXR), linking it to metabolic homeostasis and cellular stress responses 5. SLC51B expression has been detected in various tissues including seminal vesicles and liver, suggesting broader physiological roles beyond bile acid transport 67.

Sources cited
1
SLC51B encodes OSTβ subunit that forms heteromeric transporter complex operating via facilitated diffusion
PMID: 23506901
2
Essential role in intestinal bile acid absorption and enterohepatic circulation
PMID: 33222321
3
HNF1A regulates SLC51B expression for estrone sulfate transport in renal cells
PMID: 37137894
4
Loss-of-function mutations cause primary bile acid malabsorption with chronic diarrhea and cholestatic features
PMID: 28898457
5
Expression regulated by farnesoid X receptor (FXR) in metabolic pathways
PMID: 35767918
6
Expression detected in seminal vesicles indicating broader tissue distribution
PMID: 35456310
7
Expression in liver tissue associated with lipid metabolism
PMID: 35046474
Disease Associationsⓘ21
bile acid malabsorption, primary, 2Open Targets
0.33Weak
type 2 diabetes mellitusOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.29Weak
cholestasisOpen Targets
0.27Weak
DiarrheaOpen Targets
0.27Weak
retinal vascular disorderOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.03Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.03Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
severe congenital hypochromic anemia with ringed sideroblastsOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
Congenital dyserythropoietic anemia type IOpen Targets
0.03Suggestive
Bile acid malabsorption, primary, 2UniProt
Pathogenic Variants1
NM_178859.4(SLC51B):c.84del (p.Arg29fs)Likely pathogenic
Cholestasis;Diarrhea|Bile acid malabsorption, primary, 2
★☆☆☆2019→ Residue 29
View on ClinVar ↗
Related Genes
CYP7A1Protein interaction80%CYP8B1Protein interaction80%FABP6Protein interaction80%SLC10A1Protein interaction80%NR0B2Protein interaction80%ABCB11Protein interaction80%
Tissue Expression6 tissues
Lung
100%
Heart
65%
Ovary
52%
Liver
43%
Brain
32%
Bone Marrow
3%
Gene Interaction Network
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SLC51BCYP7A1CYP8B1FABP6SLC10A1NR0B2ABCB11
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86UW2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.64LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF0.87 [0.47–1.64]
RankingsWhere SLC51B stands among ~20K protein-coding genes
  • #12,882of 20,598
    Most Researched26
  • #5,306of 5,498
    Most Pathogenic Variants1
  • #15,850of 17,882
    Most Constrained (LOEUF)1.64
Genes detectedSLC51B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Farnesoid X receptor protects against cisplatin-induced acute kidney injury by regulating the transcription of ferroptosis-related genes.
PMID: 35767918
Redox Biol · 2022
1.00
2
HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells.
PMID: 37137894
Cell Death Dis · 2023
0.90
3
The heteromeric organic solute transporter, OSTα-OSTβ/SLC51: a transporter for steroid-derived molecules.
PMID: 23506901
Mol Aspects Med · 2013
0.80
4
Membrane Transporters and Carriers in Human Seminal Vesicles.
PMID: 35456310
J Clin Med · 2022
0.70
5
Fenofibrate inhibits MOXD1 and PDZK1IP1 expression and improves lipid deposition and inflammation in mice with alcoholic fatty liver.
PMID: 38042280
Life Sci · 2024
0.60