SLC51B
gene geneOn this page
Also known as OSTbetaSLC51A1BP
Summary
SLC51B (SLC51 subunit beta, HGNC:29956) is a protein-coding gene on chromosome 15q22.31, encoding Organic solute transporter subunit beta (Q86UW2). Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood.
Predicted to enable bile acid transmembrane transporter activity and protein heterodimerization activity. Involved in bile acid secretion. Located in basolateral plasma membrane.
Source: NCBI Gene 123264 — RefSeq curated summary.
At a glance
- Gene–disease (curated): bile acid malabsorption, primary, 2 (Limited, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 8 total
- Phenotypes (HPO): 14
- MANE Select transcript:
NM_178859
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29956 |
| Approved symbol | SLC51B |
| Name | SLC51 subunit beta |
| Location | 15q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | OSTbeta, SLC51A1BP |
| Ensembl gene | ENSG00000186198 |
| Ensembl biotype | protein_coding |
| OMIM | 612085 |
| Entrez | 123264 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000334287, ENST00000886654, ENST00000886655, ENST00000950357
RefSeq mRNA: 1 — MANE Select: NM_178859
NM_178859
CCDS: CCDS10199
Canonical transcript exons
ENST00000334287 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001331282 | 65051515 | 65051605 |
| ENSE00001331283 | 65052966 | 65053397 |
| ENSE00001331285 | 65049897 | 65050101 |
| ENSE00001378826 | 65045387 | 65045582 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 98.58.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3737 / max 161.6063, expressed in 64 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147213 | 0.1426 | 32 |
| 147214 | 0.0607 | 20 |
| 147209 | 0.0491 | 12 |
| 147215 | 0.0296 | 15 |
| 147216 | 0.0271 | 10 |
| 147211 | 0.0265 | 16 |
| 147212 | 0.0191 | 11 |
| 147208 | 0.0098 | 5 |
| 147210 | 0.0091 | 4 |
Top tissues by expression
255 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 98.58 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 98.22 | gold quality |
| duodenum | UBERON:0002114 | 93.56 | gold quality |
| rectum | UBERON:0001052 | 90.90 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 89.55 | gold quality |
| transverse colon | UBERON:0001157 | 89.02 | gold quality |
| small intestine | UBERON:0002108 | 88.55 | gold quality |
| jejunal mucosa | UBERON:0000399 | 88.14 | gold quality |
| colonic mucosa | UBERON:0000317 | 87.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.37 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 85.33 | gold quality |
| popliteal artery | UBERON:0002250 | 84.30 | gold quality |
| tibial artery | UBERON:0007610 | 84.30 | gold quality |
| kidney epithelium | UBERON:0004819 | 83.23 | silver quality |
| intestine | UBERON:0000160 | 83.09 | gold quality |
| aorta | UBERON:0000947 | 82.60 | gold quality |
| large intestine | UBERON:0000059 | 81.51 | gold quality |
| colon | UBERON:0001155 | 81.29 | gold quality |
| right coronary artery | UBERON:0001625 | 80.68 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 80.66 | gold quality |
| thoracic aorta | UBERON:0001515 | 80.65 | gold quality |
| ascending aorta | UBERON:0001496 | 80.63 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 79.49 | gold quality |
| left uterine tube | UBERON:0001303 | 78.82 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 78.28 | gold quality |
| mucosa of stomach | UBERON:0001199 | 78.10 | gold quality |
| left coronary artery | UBERON:0001626 | 78.02 | gold quality |
| left testis | UBERON:0004533 | 77.56 | gold quality |
| right testis | UBERON:0004534 | 77.26 | gold quality |
| coronary artery | UBERON:0001621 | 76.98 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 68.33 |
| E-ANND-3 | yes | 6.78 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR0B2, NR1H3, NR1H4, NR1I3, NR5A2, RARA
miRNA regulators (miRDB)
9 targeting SLC51B, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-6731-5P | 99.28 | 67.42 | 2375 |
| HSA-MIR-8085 | 99.28 | 67.56 | 2362 |
| HSA-MIR-4686 | 98.77 | 66.87 | 964 |
| HSA-MIR-10226 | 98.25 | 66.50 | 811 |
| HSA-MIR-1972 | 97.67 | 67.38 | 1172 |
| HSA-MIR-665 | 97.60 | 65.64 | 1781 |
| HSA-MIR-4327 | 97.21 | 67.71 | 676 |
| HSA-MIR-1231 | 95.10 | 65.63 | 663 |
Literature-anchored findings (GeneRIF, showing 16)
- OSTbeta has roles in biological transport and is widely expressed in human tissues (PMID:12719432)
- overexpression of human OSTalpha and OSTbeta facilitated the uptake of conjugated chenodeoxycholate and the activation of FXR target genes (PMID:16251721)
- OSTalpha/OSTbeta expression is induced by bile acids through ligand-dependent transactivation of both OST genes by the nuclear bile acid receptor/farnesoid X receptor (FXR). (PMID:16269519)
- the selective localization of OSTalpha and OSTbeta to the basolateral plasma membrane of epithelial cells responsible for bile acid and sterol reabsorption. (PMID:16317684)
- These results indicate that expression of Ostalpha and Ostbeta are highly regulated in response to cholestasis and that this response is dependent on the FXR bile acid receptor. (PMID:16423920)
- Demonstrate association of OST-alpha and OST-beta to determine trafficking to plasma membrane and activity. (PMID:17332473)
- The mRNA expression of OSTalpha-OSTbeta was significantly reduced (OSTalpha: 3.3-fold, P = 0.006; OSTbeta: 2.6-fold, P = 0.03) in normal-weight but not overweight gallstone carriers (PMID:18469300)
- interaction of solute transporter beta with human organic solute transporter alpha. (PMID:18847488)
- OSTbeta is localized to steroidogenic cells of the brain and adrenal gland, and it modulates DHEA/DHEAS homeostasis (PMID:20649839)
- The present report summarizes the evidence for a pleiotropic role of Ostalpha-Ostbeta in different tissues. (PMID:21691099)
- Ostbeta is required for both proper trafficking of Ostalpha and formation of the functional transport unit, and identify specific residues of Ostbeta critical for these processes. (PMID:22535958)
- OSTbeta is a target of RARalpha-mediated (by binding to DR5 response element) gene regulation pathways (PMID:24264050)
- Hepatic OSTalpha-OSTbeta expression is induced by hypoxia. (PMID:24703425)
- Dileucine motif in the extracellular N-terminal region is essential for OSTB plasma membrane targeting. (PMID:27351185)
- Study found lower organic solute transporter beta (OSTbeta) expression in colon cancer tissues compared with adjacent normal tissues and revealed the epigenetic mechanisms of it and proved that p300 controls OSTbeta expression through modulating H3K27Ac state at OSTbeta promoter region and hence causes low expression of OSTbeta in colorectal cancer. (PMID:32005758)
- HNF1A binds and regulates the expression of SLC51B to facilitate the uptake of estrone sulfate in human renal proximal tubule epithelial cells. (PMID:37137894)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc51b | ENSMUSG00000053862 |
| rattus_norvegicus | Slc51b | ENSRNOG00000028889 |
Protein
Protein identifiers
Organic solute transporter subunit beta — Q86UW2 (reviewed: Q86UW2)
Alternative names: Solute carrier family 51 subunit beta
All UniProt accessions (1): Q86UW2
UniProt curated annotations — full annotation on UniProt →
Function. Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood. Modulates SLC51A glycosylation, membrane trafficking and stability activities. The Ost-alpha/Ost-beta complex efficiently transports the major species of bile acids (taurocholate). Taurine conjugates are transported more efficiently across the basolateral membrane than glycine-conjugated bile acids. Can also transport steroids such as estrone 3-sulfate and dehydroepiandrosterone 3-sulfate, therefore playing a role in the enterohepatic circulation of sterols. Able to transport eicosanoids such as prostaglandin E2.
Subunit / interactions. Interacts with SLC51A. The Ost-alpha/Ost-beta complex is a heterodimer composed of alpha (SLC51A) and beta (SLC51B) subunit; induces the transport of SLC51A from the endoplasmic reticulum to the plasma membrane.
Subcellular location. Cell membrane.
Tissue specificity. Widely expressed with a high expression in ileum. Expressed in testis, colon, liver, small intestine, kidney, ovary and adrenal gland; and at low levels in heart, lung, brain, pituitary, thyroid gland, uterus, prostate, mammary gland and fat.
Disease relevance. Bile acid malabsorption, primary, 2 (PBAM2) [MIM:619481] An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. The disease may be caused by variants affecting the gene represented in this entry.
Domain organisation. The transmembrane domain (TM) is the major site of interaction with SLC51A. The extracellular-membrane interface is absolutely required for transport activity. The intracellular-membrane interface is necessary for establishing the correct membrane orientation that is essential for the heterodimer Ost-alpha/Ost-beta complex formation and transport activity at the cell membrane surface.
Induction. Positively regulated via NR1H4/FXR.
Similarity. Belongs to the OST-beta family.
RefSeq proteins (1): NP_849190* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029387 | OSTbeta | Family |
| IPR052678 | OST-beta_subunit | Family |
Pfam: PF15048
Catalyzed reactions (Rhea), 11 shown:
- prostaglandin E2(out) = prostaglandin E2(in) (RHEA:50984)
- taurocholate(out) = taurocholate(in) (RHEA:71703)
- estrone 3-sulfate(out) = estrone 3-sulfate(in) (RHEA:71835)
- dehydroepiandrosterone 3-sulfate(out) = dehydroepiandrosterone 3-sulfate(in) (RHEA:71839)
- tauroursodeoxycholate(out) = tauroursodeoxycholate(in) (RHEA:71843)
- glycoursodeoxycholate(out) = glycoursodeoxycholate(in) (RHEA:71847)
- glycocholate(out) = glycocholate(in) (RHEA:71851)
- taurochenodeoxycholate(out) = taurochenodeoxycholate(in) (RHEA:71855)
- glycochenodeoxycholate(out) = glycochenodeoxycholate(in) (RHEA:71859)
- taurodeoxycholate(out) = taurodeoxycholate(in) (RHEA:71863)
- glycodeoxycholate(out) = glycodeoxycholate(in) (RHEA:71867)
UniProt features (5 total): topological domain 2, chain 1, transmembrane region 1, sequence conflict 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9UO2 | ELECTRON MICROSCOPY | 2.6 |
| 9LJG | ELECTRON MICROSCOPY | 2.64 |
| 9LJH | ELECTRON MICROSCOPY | 2.73 |
| 9UO1 | ELECTRON MICROSCOPY | 2.9 |
| 9UNV | ELECTRON MICROSCOPY | 3.12 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86UW2-F1 | 67.47 | 0.12 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-159418 | Recycling of bile acids and salts |
MSigDB gene sets: 123 (showing top):
GOBP_ACID_SECRETION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_PROTEIN_TARGETING, GOBP_REGULATION_OF_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANIC_HYDROXY_COMPOUND_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS, GOBP_PROTEIN_TARGETING_TO_MEMBRANE, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_MEMBRANE
GO Biological Process (9): positive regulation of glycoprotein biosynthetic process (GO:0010560), bile acid and bile salt transport (GO:0015721), regulation of protein stability (GO:0031647), bile acid secretion (GO:0032782), positive regulation of protein exit from endoplasmic reticulum (GO:0070863), positive regulation of protein targeting to membrane (GO:0090314), lipid transport (GO:0006869), transmembrane transport (GO:0055085), obsolete positive regulation of protein glycosylation (GO:0060050)
GO Molecular Function (4): bile acid transmembrane transporter activity (GO:0015125), protein heterodimerization activity (GO:0046982), protein binding (GO:0005515), transmembrane transporter activity (GO:0022857)
GO Cellular Component (4): plasma membrane (GO:0005886), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), protein-containing complex (GO:0032991)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Bile acid and bile salt metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| monocarboxylic acid transport | 2 |
| transport | 2 |
| glycoprotein biosynthetic process | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| regulation of glycoprotein biosynthetic process | 1 |
| positive regulation of glycoprotein metabolic process | 1 |
| lipid transport | 1 |
| organic hydroxy compound transport | 1 |
| regulation of biological quality | 1 |
| acid secretion | 1 |
| protein exit from endoplasmic reticulum | 1 |
| regulation of protein exit from endoplasmic reticulum | 1 |
| positive regulation of intracellular protein transport | 1 |
| protein targeting to membrane | 1 |
| positive regulation of cellular process | 1 |
| regulation of protein targeting to membrane | 1 |
| positive regulation of establishment of protein localization | 1 |
| lipid localization | 1 |
| cellular process | 1 |
| bile acid and bile salt transport | 1 |
| carboxylic acid transmembrane transporter activity | 1 |
| lipid transmembrane transporter activity | 1 |
| protein dimerization activity | 1 |
| binding | 1 |
| transporter activity | 1 |
| transmembrane transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| basal plasma membrane | 1 |
| plasma membrane region | 1 |
| cellular_component | 1 |
Protein interactions and networks
STRING
684 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC51B | SLC51A | Q86UW1 | 999 |
| SLC51B | SLC10A2 | Q12908 | 818 |
| SLC51B | CYP7A1 | P22680 | 813 |
| SLC51B | ABCC3 | O15438 | 808 |
| SLC51B | ABCB11 | O95342 | 787 |
| SLC51B | FABP6 | P51161 | 773 |
| SLC51B | NR1H4 | Q96RI1 | 771 |
| SLC51B | SLC10A1 | Q14973 | 766 |
| SLC51B | CYP8B1 | Q9UNU6 | 718 |
| SLC51B | NR0B2 | Q15466 | 716 |
| SLC51B | FGF19 | O95750 | 675 |
| SLC51B | ABCC2 | Q92887 | 595 |
| SLC51B | SLCO1A2 | P46721 | 594 |
| SLC51B | CYP27A1 | Q02318 | 589 |
| SLC51B | ABCG5 | Q9H222 | 585 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LAT | SLC51B | psi-mi:“MI:0915”(physical association) | 0.560 |
| ASPH | SLC51B | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC51B | ETNK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC51B | CYB5R1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC51B | psi-mi:“MI:0915”(physical association) | 0.490 | |
| SLC51B | ODR4 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC51A | TNPO2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC51B | CTNND1 | psi-mi:“MI:0914”(association) | 0.350 |
| LAT | SLC51B | psi-mi:“MI:0915”(physical association) | 0.000 |
| ASPH | SLC51B | psi-mi:“MI:0915”(physical association) | 0.000 |
| ETNK1 | SLC51B | psi-mi:“MI:0915”(physical association) | 0.000 |
| CYB5R1 | SLC51B | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (27): SLC51B (Two-hybrid), SLC51B (Two-hybrid), ASPH (Two-hybrid), LAT (Two-hybrid), C1orf27 (Affinity Capture-MS), TMEM38B (Affinity Capture-MS), PRR15 (Affinity Capture-MS), RMND1 (Affinity Capture-MS), TMTC4 (Affinity Capture-MS), UFSP2 (Affinity Capture-MS), TMEM205 (Affinity Capture-MS), SLC51B (Two-hybrid), SLC51B (Cross-Linking-MS (XL-MS)), SLC51B (Affinity Capture-MS), ALDH18A1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B0GU29, A6NLX4, A6QNY1, A9CBA0, B7ZWI3, O14669, O88472, P14784, P16297, P25918, P26896, Q0VFL4, Q13651, Q32M26, Q38J84, Q38J85, Q3SYS8, Q58CT8, Q5BK39, Q5EAA5, Q5HZE8, Q5NCP0, Q5RCL0, Q64322, Q68DV7, Q6AXS2, Q6AXU5, Q6NUJ2, Q6UWV7, Q86UW2, Q8BHB3, Q8BLR5, Q8BSU2, Q8C353, Q8C708, Q8K1T1, Q8MII8, Q8N6P7, Q8NET5, Q8R182
Diamond homologs: A0JNM1, Q80WK2, Q86UW2
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
8 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 5 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
465 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:65045581:GG:G | donor_gain | 1.0000 |
| 15:65045582:GG:G | donor_gain | 1.0000 |
| 15:65051237:G:GG | donor_gain | 1.0000 |
| 15:65051513:A:AG | acceptor_gain | 1.0000 |
| 15:65051514:G:GA | acceptor_gain | 1.0000 |
| 15:65051514:GC:G | acceptor_gain | 1.0000 |
| 15:65051514:GCAT:G | acceptor_gain | 1.0000 |
| 15:65051602:GCAG:G | donor_gain | 1.0000 |
| 15:65051603:CAGG:C | donor_loss | 1.0000 |
| 15:65051605:GGTG:G | donor_loss | 1.0000 |
| 15:65051606:G:GA | donor_loss | 1.0000 |
| 15:65051607:T:A | donor_loss | 1.0000 |
| 15:65052964:A:AG | acceptor_gain | 1.0000 |
| 15:65052964:AGAA:A | acceptor_loss | 1.0000 |
| 15:65052965:G:GA | acceptor_gain | 1.0000 |
| 15:65052965:GA:G | acceptor_gain | 1.0000 |
| 15:65052965:GAAAA:G | acceptor_gain | 1.0000 |
| 15:65045579:CGGGG:C | donor_loss | 0.9900 |
| 15:65045580:GGG:G | donor_gain | 0.9900 |
| 15:65045581:GGG:G | donor_gain | 0.9900 |
| 15:65045581:GGGTG:G | donor_loss | 0.9900 |
| 15:65045582:GGTG:G | donor_loss | 0.9900 |
| 15:65045583:G:GG | donor_gain | 0.9900 |
| 15:65045583:GTGA:G | donor_loss | 0.9900 |
| 15:65045584:T:A | donor_loss | 0.9900 |
| 15:65049892:TCCA:T | acceptor_loss | 0.9900 |
| 15:65049893:CCA:C | acceptor_loss | 0.9900 |
| 15:65049894:CA:C | acceptor_loss | 0.9900 |
| 15:65049895:A:AG | acceptor_gain | 0.9900 |
| 15:65049895:A:T | acceptor_loss | 0.9900 |
AlphaMissense
838 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:65051568:A:C | S51R | 0.982 |
| 15:65051570:C:A | S51R | 0.982 |
| 15:65051570:C:G | S51R | 0.982 |
| 15:65051525:G:C | W36C | 0.973 |
| 15:65051525:G:T | W36C | 0.973 |
| 15:65051523:T:A | W36R | 0.966 |
| 15:65051523:T:C | W36R | 0.966 |
| 15:65050086:T:C | F28L | 0.941 |
| 15:65050088:T:A | F28L | 0.941 |
| 15:65050088:T:G | F28L | 0.941 |
| 15:65050082:G:C | W26C | 0.916 |
| 15:65050082:G:T | W26C | 0.916 |
| 15:65050080:T:A | W26R | 0.901 |
| 15:65050080:T:C | W26R | 0.901 |
| 15:65051566:T:A | I50K | 0.896 |
| 15:65050089:C:A | R29S | 0.895 |
| 15:65050090:G:C | R29P | 0.892 |
| 15:65051557:T:A | V47E | 0.875 |
| 15:65051545:T:G | L43R | 0.874 |
| 15:65051551:C:A | A45D | 0.874 |
| 15:65051560:T:A | V48D | 0.872 |
| 15:65051542:C:A | A42D | 0.869 |
| 15:65051545:T:C | L43P | 0.863 |
| 15:65051545:T:A | L43Q | 0.844 |
| 15:65050087:T:G | F28C | 0.841 |
| 15:65051524:G:C | W36S | 0.840 |
| 15:65050087:T:C | F28S | 0.837 |
| 15:65052966:A:C | R63S | 0.835 |
| 15:65052966:A:T | R63S | 0.835 |
| 15:65051566:T:G | I50R | 0.825 |
dbSNP variants (sampled 300 via entrez): RS1000120204 (15:65052333 T>G), RS1000456371 (15:65052288 C>T), RS1000552319 (15:65051904 C>T), RS1000781291 (15:65047514 G>A), RS1001440137 (15:65053633 G>A), RS1001620875 (15:65044267 A>G), RS1001863745 (15:65048958 A>C), RS1001917549 (15:65048768 G>A), RS1001932218 (15:65046262 C>T), RS1002047150 (15:65044737 AAAAAAAAAAAAAAAAAAAAAAG>A), RS1002173236 (15:65050499 G>C), RS1002420150 (15:65052764 A>G), RS1002919236 (15:65050134 G>A), RS1003218381 (15:65043573 C>T), RS1003477017 (15:65047688 A>C)
Disease associations
OMIM: gene MIM:612085 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| bile acid malabsorption, primary, 2 | Limited | Unknown |
Mondo (1): bile acid malabsorption, primary, 2 (MONDO:0859180)
Orphanet (0):
HPO phenotypes
14 total (14 of 14 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001405 | Periportal fibrosis |
| HP:0002028 | Chronic diarrhea |
| HP:0002570 | Steatorrhea |
| HP:0003623 | Neonatal onset |
| HP:0004905 | Reduced circulating vitamin A concentration |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0025321 | Copper accumulation in liver |
| HP:0030948 | Elevated gamma-glutamyltransferase level |
| HP:0031956 | Elevated circulating aspartate aminotransferase concentration |
| HP:0031964 | Elevated circulating alanine aminotransferase concentration |
| HP:0034048 | Decreased circulating chenodeoxycholic acid concentration |
| HP:0100512 | Decreased circulating vitamin D concentration |
| HP:0100513 | Decreased circulating vitamin E concentration |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010101_13 | White matter hyperintensities | 6.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005665 | white matter hyperintensity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: transporter — SLC51 family of steroid-derived molecule transporters
CTD chemical–gene interactions
79 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Chenodeoxycholic Acid | affects cotreatment, increases expression, decreases expression, decreases reaction, affects reaction | 9 |
| Cyclosporine | affects cotreatment, affects expression, increases expression, decreases expression | 8 |
| Deoxycholic Acid | affects cotreatment, increases expression | 4 |
| perfluorooctane sulfonic acid | increases expression, affects binding, increases transport | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases expression, increases methylation | 3 |
| Glycochenodeoxycholic Acid | increases uptake, affects cotreatment, increases expression, affects binding, decreases reaction | 3 |
| Glycocholic Acid | affects cotreatment, increases expression, affects binding, decreases reaction, increases uptake | 3 |
| Triclosan | affects cotreatment, increases expression, decreases expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Cisplatin | affects cotreatment, increases expression | 2 |
| Glycodeoxycholic Acid | affects cotreatment, increases expression | 2 |
| Lithocholic Acid | increases expression | 2 |
| Phenobarbital | increases expression | 2 |
| Tetrachlorodibenzodioxin | decreases expression | 2 |
| Aflatoxin B1 | increases expression | 2 |
| fluorotelomer sulfonic acids | increases expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, increases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| bisphenol A | affects expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| 2,4,5,2’,4’,5’-hexachlorobiphenyl | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| tri-o-cresyl phosphate | increases expression | 1 |
| resorcinol | decreases expression | 1 |
| epigallocatechin gallate | decreases reaction, increases expression | 1 |
| nefazodone | affects cotreatment, increases expression | 1 |
| perfluorooctanesulfonamide | decreases expression | 1 |
| NCS 382 | increases expression | 1 |
| fipronil | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D4U1 | HuH7-SLC51B-KO-c10 | Cancer cell line | Male |
| CVCL_D4U2 | HuH7-SLC51B-KO-c2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: bile acid malabsorption, primary, 2
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): bile acid malabsorption, primary, 2