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SLCO1B3

Synonyms
HBLRR, LST-2, LST-3TM13, LST3, OATP-8, OATP1B3, OATP8, SLC21A8
External resources
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 endogenous and xenobiotic compounds and plays a critical role in bile acid and bilirubin transport. Mutations in this gene are a cause of Rotor type hyperbilirubinemia. Alternative splicing of this gene and the use of alternative promoters results in transcript variants encoding different isoforms that differ in their tissue specificity.

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
125
Likely pathogenic
0
VUS
2,474
Likely benign
1,889
Benign
4,400

Patient phenotypes

Proportions of phenotypes among 125 patients carrying pathogenic or likely pathogenic variants on SLCO1B3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
51.2%
Abnormality of the musculoskeletal system
44.8%
Abnormality of the eye
32%
Abnormality of head or neck
26.4%
Abnormality of limbs
21.6%
Abnormality of the ear
17.6%
Abnormality of the digestive system
16%
Growth abnormality
15.2%
Abnormality of the integument
12.8%
Abnormality of the cardiovascular system
12%
Abnormality of the genitourinary system
11.2%
Abnormality of blood and blood-forming tissues
8%
Abnormality of the endocrine system
7.2%
Abnormality of the immune system
5.6%
Neoplasm
4.8%
Abnormality of the respiratory system
4%
Abnormality of prenatal development or birth
3.2%
Constitutional symptom
2.4%
Abnormal cellular phenotype
0.8%
Abnormality of the breast
0.8%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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