Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	123264
Gene name	SLC51 subunit beta
Gene symbol	SLC51B
Synonyms (NCBI Gene)	OSTBOSTBETAPBAM2SLC51A1BP
Chromosome	15
Chromosome location	15q22.31

32 Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IDA	12719432
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0015125	Function	Bile acid transmembrane transporter activity	IBA
GO:0015125	Function	Bile acid transmembrane transporter activity	IEA
GO:0015721	Process	Bile acid and bile salt transport	IBA
GO:0015721	Process	Bile acid and bile salt transport	IEA
GO:0015721	Process	Bile acid and bile salt transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	16317684
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0031647	Process	Regulation of protein stability	IEA
GO:0031647	Process	Regulation of protein stability	ISS
GO:0032782	Process	Bile acid secretion	IBA
GO:0032782	Process	Bile acid secretion	IPI	16317684
GO:0032991	Component	Protein-containing complex	IBA
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060050	Process	Positive regulation of protein glycosylation	IEA
GO:0060050	Process	Positive regulation of protein glycosylation	ISS
GO:0070863	Process	Positive regulation of protein exit from endoplasmic reticulum	IEA
GO:0070863	Process	Positive regulation of protein exit from endoplasmic reticulum	ISS
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0090314	Process	Positive regulation of protein targeting to membrane	ISS

MIM	HGNC	e!Ensembl
612085	29956	ENSG00000186198

Q86UW2

Protein name

Organic solute transporter subunit beta (OST-beta) (Solute carrier family 51 subunit beta)

Protein 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 (PubMed:16317684). Modulates SLC51A glycosylation, membr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15048	OSTbeta	3 → 122	Organic solute transporter subunit beta protein	Family

Tissue specificity

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 a

Sequence

MEHSEGAPGDPAGTVVPQELLEEMLWFFRVEDASPWNHSILALAAVVVIISMVLLGRSIQ
ASRKEKMQPPEKETPEVLHLDEAKDHNSLNNLRETLLSEKPNLAQVELELKERDVLSVFL
PDVPETES

Sequence length

128

Interactions

View interactions

KEGG Pathway
Bile secretion

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bile acid malabsorption, primary, 2	Likely pathogenic	rs1595900104	RCV001563707	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestasis	Likely pathogenic	rs1595900104	RCV000991455	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diarrhea	Likely pathogenic	rs1595900104	RCV000991455	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (9)
BILIARY CIRRHOSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	29382564	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATIONS OF DIABETES MELLITUS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES COMPLICATIONS	—	CTD	29382564	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	16423920	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC51B-related disorder	Likely benign; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (21)
Bile Acid Malabsorption Primary	Bile acid malabsorption	Pubtator	28898457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Biliary cirrhosis	Biliary cirrhosis	CTD_human_DG	16423920		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	CTD_human_DG	16423920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34128989, 35592684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	28008998	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	18469300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	18469300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholecystolithiasis	Pubtator	18469300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	LHGDN	16423920		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestasis	Cholestasis	CTD_human_DG	16423920, 22461449		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestasis	Cholestasis	BEFREE	24333169, 28898457		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestasis	Cholelithiasis	Pubtator	25798860, 29420067, 34599072	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cholestatic liver disease	Cholestatic liver disease	BEFREE	28898457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	CTD_human_DG	29382564		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diarrhea	Diarrhea	Pubtator	28898457	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33917029	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	18469300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	29420067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25798860, 29420067	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	CTD_human_DG	16423920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary Biliary Cholangitis	Biliary Cholangitis	CTD_human_DG	16423920		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SLC51A	7	["Biliary cirrhosis","Cholelithiasis","Liver cirrhosis","Cognition disorder","Diabetes complications","Delirium, dementia, and cognitive disorders","Biliary cholangitis"]	1	["Bile secretion"]	9	["Disgenet (Biliary cirrhosis)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","CTD (Cognition disorder)","Disgenet (Diabetes complications)","Disgenet (Delirium, dementia, and cognitive disorders)","CTD (Diabetes complications)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
CYGB	4	["Biliary cirrhosis","Cholelithiasis","Liver cirrhosis","Biliary cholangitis"]	0	[]	5	["Disgenet (Biliary cirrhosis)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
ENTPD2	3	["Biliary cirrhosis","Liver cirrhosis","Biliary cholangitis"]	0	[]	3	["Disgenet (Biliary cirrhosis)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
NSA2	3	["Biliary cirrhosis","Liver cirrhosis","Biliary cholangitis"]	0	[]	3	["Disgenet (Biliary cirrhosis)","CTD (Liver cirrhosis)","Disgenet (Biliary cholangitis)"]
SLC10A2	4	["Bile acid malabsorption","Cognition disorder","Diabetes complications","Delirium, dementia, and cognitive disorders"]	1	["Bile secretion"]	7	["ClinVar (Bile acid malabsorption)","Disgenet (Bile acid malabsorption)","HPO (Bile acid malabsorption)","CTD (Cognition disorder)","Disgenet (Diabetes complications)","Disgenet (Delirium, dementia, and cognitive disorders)","CTD (Diabetes complications)"]

SLC51B (SLC51 subunit beta)

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