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ABCC11

Synonyms
EWWD, MRP8, WW
External resources
Summary
The protein encoded by this gene is a member of 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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
32
Likely pathogenic
2
VUS
1,263
Likely benign
7,353
Benign
1,292

Patient Phenotypes

Proportions of phenotypes among 30 patients carrying pathogenic or likely pathogenic variants on ABCC11 gene are displayed below. The following symptoms were found in patients with a variant in ABCC11. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
36.7%
Abnormality of the ear
33.3%
Abnormality of the musculoskeletal system
26.7%
Abnormality of head or neck
23.3%
Abnormality of the eye
23.3%
Abnormality of limbs
10%
Growth abnormality
10%
Abnormality of prenatal development or birth
6.7%
Abnormality of the cardiovascular system
6.7%
Abnormality of the endocrine system
6.7%
Abnormality of the genitourinary system
6.7%
Abnormality of blood and blood forming tissues
3.3%
Abnormality of the digestive system
3.3%
Abnormality of the respiratory system
3.3%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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