ABCG2

Chr 4AD

ATP binding cassette subfamily G member 2 (JR blood group)

Also known as: ABC15, ABCP, BCRP, BMDP, CD338, CDw338, CDw388, EST157481

NCBI Gene: 9429ENSG00000118777UniProt: Q9UNQ0OMIM: 603756

The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily. Alternatively referred to as a breast cancer resistance protein, this protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. It likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. Significant expression of this protein has been observed in the placenta, which may suggest a potential role for this molecule in placenta tissue. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[Junior blood group system]MIM #614490
[Uric acid concentration, serum, QTL1]MIM #138900
AD
5
Active trials
567
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.55
LOEUF
Multiple*
Mechanism· predicted
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.55LOEUF
pLI 0.000
Z-score -1.15
OE 1.21 (0.95–1.55)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.88Z-score
OE missense 1.13 (1.04–1.23)
400 obs / 353.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.21 (0.95–1.55)
0≤0.351.4
Missense OE?1.13 (1.04–1.23)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 44 / 36.5Missense obs/exp: 400 / 353.4Syn Z: 0.69

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ABCG2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients