Features include very common findings: Conjugated hyperbilirubinemia, Biliary tract abnormality, Jaundice, and Abnormality of the liver and others; and common findings: Abnormal gastric mucosa morphology. 11 total HPO annotations.

ABCC2 encodes ATP binding cassette subfamily C member 2 (1,545 aa). ATP-dependent transporter of the ATP-binding cassette (ABC) family that binds and hydrolyzes ATP to enable active transport of various substrates including many drugs, toxicants and endogenous compound across cell membranes. Highest expression in Liver (60.1 TPM) and Kidney Cortex (7.5 TPM).

Dubin-Johnson syndrome is associated with mutations in the ABCC2 gene on chromosome 10.

The ABCC2 protein participates in ABCC2, ABCG2 tetramer, Defective ABCC2 causes DJS, and Paracetamol ADME pathways.

ABCC2 is classified as a druggable target (Abc Transporter, Cell Surface, Druggable Genome, and Transporter categories) with score 2.2.

66 pathogenic variants reported in ABCC2 in ClinVar, including hotspot variants LRG_1208p1:p.Arg1066Ter (2-star review) and LRG_1208p1:p.Arg768Trp (2-star review).

Genetic testing for ABCC2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Dubin-Johnson syndrome has been reported in the published literature.

Phenotype severity distribution: 5 very common features, 1 common feature.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for Dubin-Johnson syndrome.

22 publications have been identified in PubMed for Dubin-Johnson syndrome. Research spans Case Report / Case Series (29%), Review / Meta-Analysis (19%), and Epidemiology / Natural History (19%).