SLC51B

solute carrier family 51 subunit beta, the group of Solute carrier family 51 subunits

Basic information

Region (hg38): 15:65045387-65053397

Links

ENSG00000186198 ∙ NCBI:123264 ∙ OMIM:612085 ∙ HGNC:29956 ∙ Uniprot:Q86UW2 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• bile acid malabsorption, primary, 2 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bile acid malabsorption, primary, 2	AR	Gastrointestinal	The condition has been described as manifesting with early-onset diarrhea, and medical management (eg, fat soluble vitamin supplementation) has been described as beneficial	Gastrointestinal	28898457

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC51B gene.

• not_provided (74 variants)
• not_specified (13 variants)
• SLC51B-related_disorder (6 variants)
• Bile_acid_malabsorption,_primary,_2 (1 variants)
• Diarrhea (1 variants)
• Cholestasis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC51B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000178859.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	15		17
missense			46			46
nonsense						0
start loss						0
frameshift		1	5			6
splice donor/acceptor (+/-2bp)			1			1
Total	0	1	54	15	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC51B	protein_coding	protein_coding	ENST00000334287	3	8027

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.245	0.652	125440	0	4	125444	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.457	54	64.3	0.840	0.00000295	830
Missense in Polyphen		8	13.595	0.58846		181
Synonymous	0.922	19	24.9	0.765	0.00000124	250
Loss of Function	1.19	1	3.34	0.299	1.43e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000870
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: 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. Efficiently transports the major species of bile acids. Modulates SLC51A glycosylation, membrane trafficking and stability activities. {ECO:0000269|PubMed:16317684}.
• Pathway: Bile secretion - Homo sapiens (human);Drug Induction of Bile Acid Pathway (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.123
• ghis: 0.523

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Slc51b

Gene ontology

• Biological process: bile acid and bile salt transport;regulation of protein stability;bile acid secretion;transmembrane transport;positive regulation of protein glycosylation;positive regulation of protein exit from endoplasmic reticulum;positive regulation of protein targeting to membrane
• Cellular component: plasma membrane;integral component of membrane;basolateral plasma membrane;protein-containing complex
• Molecular function: bile acid transmembrane transporter activity;protein heterodimerization activity