Gene
ABCC2
ATP binding cassette subfamily C member 2
- HGNC 53↗(opens in a new tab)
- Ensembl gene ENSG00000023839↗(opens in a new tab)
- NCBI Gene 1244↗(opens in a new tab)
Summary
- Cytogenetic location
- 10q24.2
- Coordinates
- Chromosome 10: 99,782,640–99,852,594 (GRCh38)
- Exons
- 32 exons across 70 kb
- Protein
- 1,545 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- DJS, MRP2, cMRP
- Previous symbols
- CMOAT
- MANE Select transcript
- ENST00000647814.1NM_000392.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Gilbert Syndrome
- Dubin-Johnson SyndromeAutosomal recessive
Caused by variants in ABCC2, which reduce the release of bilirubin into bile and cause mild lifelong jaundice that is usually harmless.
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing explains raised bilirubin results and can avoid unnecessary investigations; jaundice may worsen with pregnancy or oral contraceptives.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How ABCC2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.8 kb of the gene's 70 kb; 4,638 of those bases code for the protein.
How a genome test reads ABCC2
62
positions in ABCC2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 70 kb of ABCC2, introns included, not only the 5.8 kb of exons.
Traits linked to ABCC2
The Human Phenotype Ontology lists these as features of the rare conditions ABCC2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ABCC2 gene: ATP binding cassette subfamily C member 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/abcc2
Dante Labs. ABCC2 gene: ATP binding cassette subfamily C member 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abcc2
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