SLC51B

protein-coding

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

Gene summary

Predicted to enable bile acid transmembrane transporter activity and protein heterodimerization activity. Involved in bile acid secretion. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_178859.4

Inheritance

ClinVar variants

P:1U:63B:17

Top phenotype

Bile acid malabsorption, primary, 2

gnomAD constraint

pLI —, LoF o/e 0.3

Max pathogenic AF

—

Genomic locus

chr15:65,045,387-65,053,397

External References & Databases

Ensembl (ENSG00000186198)

Transcript & Mutation Effects

hg38 • Region Span ~8.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

bile acid malabsorption, primary, 2LIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0859180

Submitter: PanelApp Australia

bile acid malabsorption, primary, 2LIMITED

Inheritance Pattern: Unknown

Disease ID:MONDO:0859180

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Bile acid malabsorption, primary, 2AR

Manifestation: Gastrointestinal

Intervention: Gastrointestinal

Rationale: The condition has been described as manifesting with early-onset diarrhea, and medical management (eg, fat soluble vitamin supplementation) has been described as beneficial

Refs: 28898457

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLC51B variants in ClinVar

6 Conditions Cataloged

not providedTotal: 93

not specifiedTotal: 15

SLC51B-related disorderTotal: 10

Bile acid malabsorption, primary, 2Total: 1

DiarrheaTotal: 1

CholestasisTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178859.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	17 clinvar		18
missense			54 clinvar			54
nonsense						0
start loss			1 clinvar			1
frameshift		1 clinvar	5 clinvar			6
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	1	63	17	0	81

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178859.4	RefSeq	NP_849190.2	3	MANE Select
ENST00000334287.3	Ensembl	ENSP00000335292.2	3	MANE Select
ENST00000886654.1	Ensembl	ENSP00000556713.1	3	Standard
ENST00000886654.2	Ensembl	ENSP00000556713.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Bile secretion - Homo sapiens (human)
Drug Induction of Bile Acid Pathway

Biological Process

bile acid and bile salt transport
regulation of protein stability
bile acid secretion
transmembrane transport
positive regulation of protein glycosylation

Molecular Function

bile acid transmembrane transporter activity
protein heterodimerization activity

Cellular Component

plasma membrane
integral component of membrane
basolateral plasma membrane
protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000334287
Coding exons: 3
Length: 8027
Individuals with no LoFs: 125440
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 125444
p: 0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.457	54	64.3	0.840	0.00000295	830
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): N

Gene Damage Prediction

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