SLCO1B7

pseudo

solute carrier organic anion transporter family member 1B7 (putative), the group of Solute carrier organic anion transporter family

Gene summary

Predicted to enable bile acid transmembrane transporter activity. Predicted to be involved in bile acid and bile salt transport and sodium-independent organic anion transport. Predicted to be located in plasma membrane. Predicted to be active in basolateral plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

N/A

Inheritance

—

ClinVar variants

—

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.32

Max pathogenic AF

—

Genomic locus

chr12:20,962,768-21,090,106

External References & Databases

Ensembl (ENSG00000205754)

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

schizophreniaNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0005090

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SLCO1B7 variants in ClinVar

0 Conditions Cataloged

No annotated ClinVar phenotypes.

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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
synonymous
missense
nonsense
start loss
frameshift
splice donor/acceptor (+/-2bp)
Total	0	0	0	0	0

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 0 of 0 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
No transcripts match your selected source or search query.

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Bile secretion - Homo sapiens (human)

Biological Process

bile acid and bile salt transport
sodium-independent organic anion transport
transmembrane transport

Molecular Function

bile acid transmembrane transporter activity
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: ENST00000421593
Coding exons: 13
Length: 277007
Individuals with no LoFs: 125405
Homozygous LoFs: 2
Heterozygous LoFs: 325
Defined: 125732
p: 0.00130

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.962	357	309	1.15	0.0000149	4108
Missense (PolyPhen)		91	93.095	0.9775		1131
Synonymous	-1.85	133	109	1.23	0.00000549	1208
Loss of Function	-1.50	34	25.8	1.32	0.00000123	383

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0010	notable
Latino/Admixed American	0.0016	0.0015	notable
Ashkenazi Jewish	0.0042	0.0041	notable
East Asian	0.0010	0.00098	notable
Finnish	0.00042	0.00042	rare
European (Non-Finnish)	0.0013	0.0012	notable
South Asian	0.0011	0.00098	notable
Other	0.0036	0.0034	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 1.71
RVIS percentile EVS: 96.47

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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