ABCC9: ATP Binding Cassette Subfamily C Member 9
A key regulator of cardiovascular and metabolic function, associated with dilated cardiomyopathy and Cantú syndrome.
Gene Information Card
| Symbol | ABCC9 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily C Member 9 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p12.1 |
| NCBI Gene ID | 10060 ncbi.nlm.nih.gov/gene/10060 |
| Ensembl ID | ENSG00000069431 |
| UniProt ID | O60706 |
| OMIM ID | 601439 |
| HGNC ID | 60 |
| Aliases | SUR2, CMD1O, ATFB12, SUR2A, SUR2B |
Description
ABCC9 encodes the sulfonylurea receptor 2 (SUR2), a regulatory subunit of ATP-sensitive potassium (KATP) channels. These channels couple cellular metabolism to membrane excitability and are critical in cardiac, vascular smooth muscle, and pancreatic beta-cell function. Mutations in ABCC9 cause dilated cardiomyopathy 1O (CMD1O) and Cantú syndrome, and are associated with atrial fibrillation and other cardiovascular phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy 1O (CMD1O) | Loss-of-function mutations impair KATP channel regulation, leading to cardiac dysfunction | ClinVar, OMIM |
| Cantú syndrome | Gain-of-function mutations increase KATP channel activity, causing hypertrichosis, osteochondrodysplasia, and cardiovascular abnormalities | ClinVar, OMIM |
| Atrial fibrillation 12 (ATFB12) | Missense variants alter channel gating, predisposing to arrhythmia | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 8.3 | Low |
| Pancreas | 6.1 | Low |
| Brain | 4.2 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 15.0 | High expression in heart tissue |
| Smooth muscle cells | 10.2 | Vascular expression |
| Pancreatic beta cells | 7.5 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3457C>T (p.Arg1153Trp) | Missense | Rare | Gain-of-function; associated with Cantú syndrome |
| c.1490G>A (p.Arg497His) | Missense | Rare | Loss-of-function; associated with dilated cardiomyopathy |
| c.4570G>A (p.Glu1524Lys) | Missense | Rare | Dominant-negative effect; linked to atrial fibrillation |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce KATP channel activity, leading to cardiac hyperexcitability and dilated cardiomyopathy (e.g., p.Arg497His).
Gain of Function (GOF)
Mutations that increase KATP channel activity, causing Cantú syndrome with hypertrichosis and cardiovascular anomalies (e.g., p.Arg1153Trp).
Dominant Negative (DN)
Mutations that interfere with wild-type SUR2 function, contributing to arrhythmia phenotypes (e.g., p.Glu1524Lys).
View complete mutation data：
Gene Ontology (GO)
| • ATP binding (GO:0005524) | • ATPase activity (GO:0016887) |
| • sulfonylurea receptor activity (GO:0008281) | • ATP-sensitive potassium channel activity (GO:0015272) |
| • plasma membrane (GO:0005886) | • response to ischemia (GO:0002931) |
Pathways
• KATP channel complex (Reactome: R-HSA-1296067)
• Cardiac conduction (Reactome: R-HSA-5576891)
• Sulfonylurea action (KEGG: hsa04930)
Protein Summary
ABCC9 encodes SUR2, a 1549-amino acid transmembrane protein with two nucleotide-binding domains (NBDs) and multiple transmembrane helices. It forms octameric KATP channels with Kir6.x subunits. SUR2 contains binding sites for ATP, ADP, and sulfonylureas, regulating channel opening in response to metabolic stress. Isoforms SUR2A (cardiac) and SUR2B (smooth muscle) arise from alternative splicing.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCC9 Knockout HEK293 Cell Line | EDJ-KQ6881 | Human | 10060 | Details Get a Quote |
| ABCC9 Knockout HeLa Cell Line | EDJ-KQ55308 | Human | 10060 | Details Get a Quote |
| ABCC9 Knockout A-549 Cell Line | EDJ-KQ63791 | Human | 10060 | Details Get a Quote |
| ABCC9 Knockout HCT 116 Cell Line | EDJ-KQ72248 | Human | 10060 | Details Get a Quote |
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