SLCO5A1

protein-coding

solute carrier organic anion transporter family member 5A1, the group of Solute carrier organic anion transporter family

Gene summary

Predicted to enable transmembrane transporter activity. Predicted to be involved in sodium-independent organic anion transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

SLC21A15

MANE transcript

NM_030958.3

Inheritance

—

ClinVar variants

U:246B:109

Top phenotype

SLCO5A1-related disorder

gnomAD constraint

pLI —, LoF o/e 0.47

Max pathogenic AF

—

Genomic locus

chr8:69,667,046-69,834,978

External References & Databases

Ensembl (ENSG00000137571)

Transcript & Mutation Effects

hg38 • Region Span ~167.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLCO5A1 variants in ClinVar

3 Conditions Cataloged

not providedTotal: 313

not specifiedTotal: 108

SLCO5A1-related disorderTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_030958.3. 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			7 clinvar	83 clinvar	11 clinvar	101
missense			219 clinvar	10 clinvar	5 clinvar	234
nonsense			9 clinvar			9
start loss						0
frameshift			7 clinvar			7
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	246	93	16	355

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_030958.3	RefSeq	NP_112220.2	9	MANE Select
ENST00000260126.9	Ensembl	ENSP00000260126.3	9	MANE Select
NM_001146008.2	RefSeq	NP_001139480.1	8	Standard
NM_001146009.1	RefSeq	NP_001139481.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

sodium-independent organic anion transport
transmembrane transport

Molecular Function

sodium-independent organic anion transmembrane transporter activity

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000260126
Coding exons: 9
Length: 168018
Individuals with no LoFs: 125641
Homozygous LoFs: 0
Heterozygous LoFs: 107
Defined: 125748
p: 0.000426

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.903	443	500	0.886	0.0000287	5496
Missense (PolyPhen)		84	137.3	0.61181		1434
Synonymous	1.04	191	210	0.909	0.0000142	1743
Loss of Function	2.77	15	31.9	0.470	0.00000159	384

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.0012	0.0012	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00028	0.00027	rare
Finnish	0.00089	0.00088	rare
European (Non-Finnish)	0.00027	0.00027	rare
South Asian	0.00013	0.00013	rare
Other	0.00049	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.102

Intolerance Scores

LoFtool: 0.772
RVIS EVS: 0.52
RVIS percentile EVS: 80.34

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.184

Gene Damage Prediction

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