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ABCC12

Synonyms
MRP9
External resources
Summary
This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer.

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
140
Likely pathogenic
408
VUS
2,411
Likely benign
135
Benign
0

Patient Phenotypes

Proportions of phenotypes among 541 patients carrying pathogenic or likely pathogenic variants on ABCC12 gene are displayed below. The following symptoms were found in patients with a variant in ABCC12. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.9%
Abnormality of the eye
28.7%
Abnormality of the musculoskeletal system
27.4%
Abnormality of head or neck
18.3%
Abnormality of the cardiovascular system
13.3%
Abnormality of the ear
13.3%
Abnormality of the integument
10%
Abnormality of the genitourinary system
9.8%
Growth abnormality
9.4%
Abnormality of limbs
7.6%
Abnormality of metabolism homeostasis
7.2%
Abnormality of the digestive system
6.7%
Abnormality of blood and blood forming tissues
5.9%
Abnormality of the immune system
5.7%
Abnormality of prenatal development or birth
2.4%
Abnormality of the endocrine system
2.4%
Abnormality of the respiratory system
1.8%
Neoplasm
1.8%
Constitutional symptom
1.1%
Abnormality of the breast
0.6%
Abnormality of the voice
0.4%
Abnormal cellular phenotype
0.2%
Abnormality of the thoracic cavity
0%

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