ABCC9 Chromosome 12
ATP binding cassette subfamily C member 9
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What This Gene Does
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 protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
Gene Info
Gene Group
ATP binding cassette subfamily C
Locus Type
gene with protein product
Location
12p12.1
Ensembl
ENSG00000069431
Associated Conditions (26)
Cardiomyopathy
Dilated cardiomyopathy 1O
Cardiovascular phenotype
Hypertrichotic osteochondrodysplasia Cantu type
Intellectual disability and myopathy syndrome
Atrial fibrillation
familial
12
ABCC9-related disorder
Nonpapillary renal cell carcinoma
Hepatocellular carcinoma
Primary dilated cardiomyopathy
Gastric cancer
Arrhythmogenic right ventricular cardiomyopathy
Conduction disorder of the heart
Intellectual disability
Brugada syndrome
Dilated cardiomyopathy 1A
Sarcoma
Malignant tumor of esophagus
+6 more conditions
Key Variants
RS1024095026
Conflicting classifications of pathogenicity
Cardiomyopathy, Dilated cardiomyopathy 1O, Cardiovascular phenotype
Health Risk
RS1026995892
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Cardiovascular phenotype, Dilated cardiomyopathy 1O
Health Risk
RS1057524442
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
Health Risk
RS1060503051
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
Health Risk
RS113542001
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS1189432427
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Cardiovascular phenotype, Dilated cardiomyopathy 1O
Health Risk
RS1194330942
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type, Intellectual disability and myopathy syndrome
Health Risk
RS1213285317
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Cardiovascular phenotype, Dilated cardiomyopathy 1O
Health Risk
RS1264575683
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1O, Cardiovascular phenotype, Dilated cardiomyopathy 1O
Health Risk
RS1290109600
Conflicting classifications of pathogenicity
Cardiomyopathy, Dilated cardiomyopathy 1O, Cardiovascular phenotype
Health Risk
RS1326389765
Conflicting classifications of pathogenicity
Cardiomyopathy, Cardiovascular phenotype, Cardiomyopathy
Health Risk
RS1345994016
Conflicting classifications of pathogenicity
Intellectual disability and myopathy syndrome, Hypertrichotic osteochondrodysplasia Cantu type, Atrial fibrillation
Health Risk
All Variants (186)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776934642 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1O, Atrial fibrillation, familial |
| RS777049470 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1O, Cardiovascular phenotype, Hypertrichotic osteochondrodysplasia Cantu type |
| RS777591544 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1O, Cardiovascular phenotype, Cardiovascular phenotype |
| RS778849288 | Health Risk | Conflicting classifications of pathogenicity | Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O, Cardiovascular phenotype |
| RS779866340 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1O, Atrial fibrillation |
| RS780071007 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type, Cardiovascular phenotype |
| RS869025349 | Health Risk | Conflicting classifications of pathogenicity | Primary dilated cardiomyopathy, Dilated cardiomyopathy 1O, Arrhythmogenic right ventricular cardiomyopathy |
| RS876657427 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS886049174 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type, Cardiovascular phenotype |
| RS886049175 | Health Risk | Conflicting classifications of pathogenicity | Cardiovascular phenotype, Dilated cardiomyopathy 1O, Cardiovascular phenotype |
| RS934763013 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Dilated cardiomyopathy 1O, Cardiovascular phenotype |
| RS950805207 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1O, Cardiovascular phenotype, Dilated cardiomyopathy 1O |
| RS1001916923 | Health Risk | Likely pathogenic | — |
| RS1057516044 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS1057521640 | Health Risk | Likely pathogenic | — |
| RS1057521820 | Health Risk | Likely pathogenic | — |
| RS1064794779 | Health Risk | Likely pathogenic | — |
| RS1064794780 | Health Risk | Likely pathogenic | — |
| RS1178925696 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS12298510 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS1396851699 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS1555100687 | Health Risk | Likely pathogenic | Wolff-Parkinson-White pattern, Wolff-Parkinson-White pattern |
| RS1592166720 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type |
| RS182537028 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS1941815245 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS1944560174 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS1946956410 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2137148346 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2137165886 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS2137388078 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS2137529749 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2137691925 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2137748028 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2137852356 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2137874802 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2540806316 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS2541510478 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2541627484 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS2541736804 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS387907211 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type |
| RS387907227 | Health Risk | Likely pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type |
| RS771241172 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS786205475 | Health Risk | Likely pathogenic | — |
| RS878854782 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS121909304 | Health Risk | Pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS1403772538 | Health Risk | Pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS141025897 | Health Risk | Pathogenic | Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O, Cardiovascular phenotype |
| RS1415997308 | Health Risk | Pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS1422935645 | Health Risk | Pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |
| RS1471028467 | Health Risk | Pathogenic | Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O |