ATP binding cassette subfamily C member 9
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
DDG2P
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownIntellectual disability
BIALLELIC, autosomal or pseudoautosomalPaediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownBrugada syndrome and cardiac sodium channel disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedDilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted+6 more panels — install the extension to see the full list inline on any page.
Hypertrichotic osteochondrodysplasia, Cantu type
hypertrichotic osteochondrodysplasia Cantu type
dilated cardiomyopathy 1O
intellectual disability and myopathy syndrome
atrial fibrillation, familial, 12
familial isolated dilated cardiomyopathy
hypertensive disorder
Abnormality of the skeletal system
Abnormality of the cardiovascular system
autosomal dominant dilated cardiomyopathy
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ATP-binding cassette sub-family C member 9
Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation (PubMed:9831708). Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with KCNJ8 (By similarity)
ABCC9 · O60706
Mean pLDDT
81.7/ 100
Confident
1,549 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
