Dubin-Johnson syndrome: genes and variants
Dubin-Johnson syndrome is linked to 1 analyzed protein (ABCC2). 7 DNA variants are known to cause it; 71 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Dubin-Johnson syndrome
ABCC2: ATP-binding cassette sub-family C member 2
It moves bilirubin conjugates, glutathione conjugates, drugs, and other organic anions from hepatocytes into bile. Loss-of-function variants cause Dubin-Johnson syndrome with chronic conjugated hyperbilirubinemia.
7 disease-causing and 71 uncertain variants in ABCC2 are linked to Dubin-Johnson syndrome.
Where Dubin-Johnson syndrome variants cluster
- ABCC2 ABC transporter 1 (positions 637–861): 4 of 7 disease-causing changes, 3.9× more than its size predicts.
Known disease-causing variants in Dubin-Johnson syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ABCC2 G693E | 693 | ABC transporter 1 | Disease-causing (★★) |
| ABCC2 G693R | 693 | ABC transporter 1 | Disease-causing (★★) |
| ABCC2 R393W | 393 | ABC transmembrane type-1 1 | Disease-causing (★★) |
| ABCC2 R768W | 768 | ABC transporter 1 | Disease-causing (★★) |
| ABCC2 R1150H | 1150 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC2 I1173F | 1173 | ABC transmembrane type-1 2 | Disease-causing (★★) |
| ABCC2 G764D | 764 | ABC transporter 1 | Disease-causing (★) |
Frequently asked questions
Which genes are linked to Dubin-Johnson syndrome?
In CATVariant, Dubin-Johnson syndrome is linked to 1 analyzed protein: ABCC2 (ATP-binding cassette sub-family C member 2).
How many genetic variants are linked to Dubin-Johnson syndrome?
120 variants: 7 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 71 are of uncertain significance or have conflicting reports.
Which uncertain variants in Dubin-Johnson syndrome look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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