GENE REFERENCE / HGNC:10959

SLCO1B1

solute carrier organic anion transporter family member 1B1

protein-coding gene12p12.1Gene information

What does this gene do?

The SLCO1B1 gene provides instructions for making a protein called organic anion transporting polypeptide 1B1, or OATP1B1. This protein is found in liver cells; it transports compounds from the blood into the liver so that they can be cleared from the body. For example, the OATP1B1 protein transports bilirubin, which is a yellowish substance that is produced when red blood cells are broken down. In the liver, bilirubin is dissolved in a digestive fluid called bile and then excreted from the body. The OATP1B1 protein also transports certain hormones, toxins, and drugs into the liver for removal from the body. Drugs transported by the OATP1B1 protein include statins, which are used to treat high cholesterol; heart disease medications; certain antibiotics; and some drugs used for the treatment of cancer.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2013-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 296
Submissions for variants in or overlapping this gene: 459
Submissions explicitly reporting this gene: 358
Alleles reported pathogenic / likely pathogenic: 7
VariationIDs with uncertain significance: 132
VariationIDs with conflicting classifications: 4

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SLCO1B1?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 7 alleles in SLCO1B1 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SLCO1B1.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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