Home > Gene Browser > SLCO1B1
SLCO1B1
- Synonyms
- HBLRR, LST-1, LST1, OATP-C, OATP1B1, OATP2, OATPC, SLC21A6
- External resources
- NCBI10599
- OMIM604843
- EnsemblENSG00000134538
- HGNCHGNC:10959
- Summary
- This gene encodes a liver-specific member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of numerous endogenous compounds including bilirubin, 17-beta-glucuronosyl estradiol and leukotriene C4. This protein is also involved in the removal of drug compounds such as statins, bromosulfophthalein and rifampin from the blood into the hepatocytes. Polymorphisms in the gene encoding this protein are associated with impaired transporter function.
Variant counts
The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.
- Pathogenic
- 59
- Likely pathogenic
- 182
- VUS
- 7,370
- Likely benign
- 5,194
- Benign
- 304
Patient phenotypes
Proportions of phenotypes among 240 patients carrying pathogenic or likely pathogenic variants on SLCO1B1 gene are displayed below.
- Phenotype class
- Patients in 3billion (%)
- Abnormality of the nervous system
- 33.8%
- Abnormality of the eye
- 27.1%
- Abnormality of the musculoskeletal system
- 26.7%
- Abnormality of head or neck
- 20.4%
- Abnormality of the genitourinary system
- 16.3%
- Abnormality of the cardiovascular system
- 15%
- Growth abnormality
- 13.8%
- Abnormality of the ear
- 11.7%
- Abnormality of limbs
- 9.2%
- Abnormality of the integument
- 9.2%
- Abnormality of the digestive system
- 8.3%
- Abnormality of the endocrine system
- 6.7%
- Abnormality of blood and blood-forming tissues
- 5.8%
- Abnormality of the immune system
- 5.4%
- Neoplasm
- 3.8%
- Abnormality of prenatal development or birth
- 3.3%
- Abnormality of the respiratory system
- 2.9%
- Abnormality of the breast
- 1.7%
- Abnormality of the voice
- 0.8%
- Abnormal cellular phenotype
- 0.4%
- Abnormality of metabolism homeostasis
- 0%
- Abnormality of the thoracic cavity
- 0%
- Constitutional symptom
- 0%
Have a question or need assistance? Ask here.
Send us your questions or comments related to the variant counts and/or patient phenotypes