GENE REFERENCE / HGNC:60

ABCC9

ATP binding cassette subfamily C member 9

protein-coding gene12p12.1Gene information

What does this gene do?

The ABCC9 gene provides instructions for making the sulfonylurea receptor 2 (SUR2) protein. This protein forms one part (subunit) of a channel that transports charged atoms of potassium (potassium ions) across cell membranes. Each of these channels consists of eight subunits: four SUR2 proteins and four proteins produced from either the KCNJ8 or KCNJ11 gene. The SUR2 subunits regulate the activity of the channel, determining whether it is open or closed.

Channels made with the SUR2 protein are known as ATP-sensitive potassium (K-ATP) channels. The channels open and close in response to the amount of ATP, the cell's main energy source, inside the cell. The resulting transport of potassium ions is part of a complex network of signals that relay chemical messages into and out of cells.

Although K-ATP channels are present in cells and tissues throughout the body, the highest levels of SUR2-containing channels are found in skeletal and heart (cardiac) muscle. These channels indirectly help regulate the concentration of calcium ions in cells. This regulation is essential for normal heart function. The function of these channels in other tissues is unclear.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-11-19. Source review: 2013-01.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Brugada syndromeMONDO:0015263 · Evaluated 2025-10-28	Autosomal dominant	DisputedHereditary Cardiovascular Disease Gene Curation Expert Panel
hypertrichotic osteochondrodysplasia Cantu typeMONDO:0009406 · Evaluated 2025-02-21	Autosomal dominant	DefinitiveSyndromic Disorders Gene Curation Expert Panel
dilated cardiomyopathy 1OMONDO:0012062 · Evaluated 2026-03-04	Autosomal dominant	LimitedDilated Cardiomyopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 2,344
Submissions for variants in or overlapping this gene: 4,146
Submissions explicitly reporting this gene: 4,042
Alleles reported pathogenic / likely pathogenic: 110
VariationIDs with uncertain significance: 990
VariationIDs with conflicting classifications: 138

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ABCC9?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 110 alleles in ABCC9 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ABCC9.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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