ABCC11 Gene - ATP Binding Cassette Subfamily C Member 11
Genetic determinant of earwax type, axillary odor, and breast cancer chemotherapy response
Gene Information Card
| Symbol | ABCC11 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily C Member 11 |
| Gene Type | Protein coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 85320 ncbi.nlm.nih.gov/gene/85320 |
| Ensembl ID | ENSG00000121270 |
| UniProt ID | Q96J66 |
| OMIM ID | 607040 |
| HGNC ID | 14639 |
| Aliases | MRP8, MOAT-D, CFTR/MRP-related protein |
Description
ABCC11 encodes multidrug resistance protein 8 (MRP8), a member of the ATP-binding cassette (ABC) transporter superfamily. MRP8 functions as an organic anion transporter involved in the efflux of endogenous and xenobiotic compounds. A common single nucleotide polymorphism (rs17822931, G538A) determines earwax type (wet vs. dry) and axillary odor phenotype. ABCC11 is also implicated in drug resistance in breast cancer and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | ABCC11 overexpression is associated with resistance to chemotherapeutic agents such as 5-fluorouracil and methotrexate; rs17822931 genotype influences prognosis in certain populations | ClinVar, COSMIC, NCBI PubMed |
| Axillary osmidrosis | Loss-of-function variant (rs17822931, 538G>A) results in dry earwax and reduced axillary odor due to decreased secretion of odor precursors | OMIM, NCBI |
| Earwax type (cerumen) | The same SNP (rs17822931) determines wet (G allele) vs. dry (A allele) earwax; dry type is recessive | OMIM, NCBI |
| Colorectal cancer | ABCC11 expression may affect response to irinotecan and other chemotherapeutics | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.2 | Not detected |
| Breast | 1.5 | Low |
| Liver | 8.3 | Medium |
| Kidney | 4.7 | Medium |
| Adrenal gland | 3.1 | Low |
| Prostate | 0.8 | Not detected |
| Skin | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 2.1 | Moderate expression |
| HepG2 (liver cancer) | 6.5 | High expression |
| A549 (lung cancer) | 1.0 | Low expression |
| HEK293 (embryonic kidney) | 3.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs17822931 (538G>A) | Missense (Gly180Arg) | ~50% in East Asians, <5% in Europeans | Loss of function; causes dry earwax and reduced axillary odor |
| c.538G>A (p.Gly180Arg) | Missense | High in East Asian populations | Alters substrate transport; associated with altered drug response |
| c.1249G>A (p.Val417Ile) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
rs17822931 (Gly180Arg) reduces or abolishes transport activity for organic anions, leading to dry earwax and reduced axillary odor.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ABCC11.
Dominant Negative (DN)
Not described for ABCC11.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005524 - ATP binding | • GO:0016887 - ATP hydrolysis activity |
| • GO:0015238 - drug transmembrane transporter activity | • GO:0015293 - symporter activity |
| • GO:0042910 - xenobiotic transmembrane transporter activity | • GO:0005886 - plasma membrane |
| • GO:0016021 - integral component of membrane | • GO:0042493 - response to drug |
| • GO:0055085 - transmembrane transport |
Pathways
• ABC transporters (KEGG: hsa02010)
• Transport of organic anions (Reactome: R-HSA-879518)
Protein Summary
Multidrug resistance protein 8 (MRP8) is a 1382-amino acid transmembrane protein belonging to the ABCC subfamily. It localizes to the plasma membrane and mediates ATP-dependent efflux of organic anions, including glutathione conjugates, leukotriene C4, and various chemotherapeutic drugs. The protein is highly expressed in liver, kidney, and breast tissue. The common Gly180Arg variant (rs17822931) impairs protein function and is associated with dry earwax and reduced axillary odor. ABCC11 expression is a potential biomarker for chemotherapy resistance in breast cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCC11 Knockout HEK293 Cell Line | EDJ-KQ10338 | Human | 85320 | Details Get a Quote |
| ABCC11 Knockout HeLa Cell Line | EDJ-KQ57702 | Human | 85320 | Details Get a Quote |
| ABCC11 Knockout A-549 Cell Line | EDJ-KQ66204 | Human | 85320 | Details Get a Quote |
| ABCC11 Knockout HCT 116 Cell Line | EDJ-KQ74630 | Human | 85320 | Details Get a Quote |
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