SLC51B (SLC51 subunit beta)

Gene

• Entrez ID: 123264
• Gene name: SLC51 subunit beta
• Gene symbol: SLC51B
• Synonyms (NCBI Gene): OSTB, OSTBETA, PBAM2, SLC51A1BP
• Chromosome: 15
• Chromosome location: 15q22.31

Gene ontology (GO)

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

Other IDs

• MIM: 612085
• HGNC: 29956
• e!Ensembl: ENSG00000186198

Protein

• UniProt ID: 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

Pathways

KEGG:

Bile secretion

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIARY CIRRHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★☆☆☆ 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	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY	—	CTD	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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