ABCC9

Chr 12ADAR

ATP binding cassette subfamily C member 9

Also known as: ABC37, ATFB12, CANTU, CMD1O, IDMYS, SUR2

NCBI Gene: 10060 ENSG00000069431 UniProt: O60706 OMIM: 601439

This protein forms ATP-sensitive potassium channels in cardiac, skeletal, and smooth muscle by serving as the regulatory subunit that enables channel activation, while partnering with other proteins that form the channel pore. Mutations cause a spectrum of conditions including Cantu syndrome (hypertrichotic osteochondrodysplasia with intellectual disability), dilated cardiomyopathy, and familial atrial fibrillation, with inheritance patterns that can be either autosomal dominant or autosomal recessive. The gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Atrial fibrillation, familial, 12MIM #614050

Cardiomyopathy, dilated, 1OMIM #608569

Hypertrichotic osteochondrodysplasia (Cantu syndrome)MIM #239850

Intellectual disability and myopathy syndromeMIM #619719

Clinical highlights

Gene-disease validity (ClinGen)

hypertrichotic osteochondrodysplasia Cantu type · ADDefinitivesufficient evidence for diagnostic panels3 gene-disease associations curated in total

Interpreting a novel variant

Curated mechanisms (Gene2Phenotype) include both loss of function and gain of function. Which applies is variant-dependent — do not assume a null variant is, or isn’t, the pathogenic class without checking the specific variant.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.48

LOEUF

Multiple*

Mechanism· G2P