Gene
ABCC9
ATP binding cassette subfamily C member 9
- HGNC 60↗(opens in a new tab)
- Ensembl gene ENSG00000069431↗(opens in a new tab)
- NCBI Gene 10060↗(opens in a new tab)
Summary
- Cytogenetic location
- 12p12.1
- Coordinates
- Chromosome 12: 21,797,389–21,941,426 (GRCh38)
- Exons
- 40 exons across 144 kb
- Protein
- 1,549 amino acids
- Also known as
- SUR2, CMD1O
- MANE Select transcript
- ENST00000261200.9NM_020297.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Dilated Cardiomyopathy
Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.
Trait report that reads ABCC9
Sleep & Chronotype
- Sleep Duration
How ABCC9 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.7 kb of the gene's 144 kb; 4,650 of those bases code for the protein.
How a genome test reads ABCC9
111
positions in ABCC9 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 144 kb of ABCC9, introns included, not only the 8.7 kb of exons.
Genes linked to the same conditions
- ACTC1actin alpha cardiac muscle 1Shares 1 condition
- BAG3BAG cochaperone 3Shares 1 condition
- BAG5BAG cochaperone 5Shares 1 condition
- DESdesminShares 1 condition
- DMDdystrophinShares 1 condition
- DOLKdolichol kinaseShares 1 condition
- EMDemerinShares 1 condition
- FHL1four and a half LIM domains 1Shares 1 condition
- FKTNfukutinShares 1 condition
- FLIIFLII actin remodeling proteinShares 1 condition
- FLNCfilamin CShares 1 condition
- JPH2junctophilin 2Shares 1 condition
Traits linked to ABCC9
The Human Phenotype Ontology lists these as features of the rare conditions ABCC9 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Cardiac failure
- Cutis marmorata
- Impaired myocardial contractility
- Paroxysmal atrial fibrillation
- Stretched and thinned heart muscle
- Ventricular tachycardia
- Enlarged heart
- Left ventricular systolic dysfunction
Show 22 more traits
- Abnormal heart rate
- Complete right bundle branch block
- Fainting spell
- Heart stops beating
- Palpitations
- Patent ductus arteriosus
- Quivering upper heart chambers resulting in irregular heartbeat
- ST segment elevation
- Abnormal heart valve morphology
- Elevated heart rate
- Enlarged and thickened heart muscle
- First degree atrioventricular block
- Heart attack
- Paroxysmal ventricular tachycardia
- Sick sinus syndrome
- Supraventricular tachycardia
- Ventricular fibrillation
- Trifascicular block
- Ventricular arrhythmia
- Aortic valve has two leaflets rather than three
- Congenital hypertrophy of left ventricle
- Fluid around heart
Abnormality of head or neck
- Prominent brow
- Thin red part of the upper lip
- Coarse facial features
- Curly eyelashes
- Flat face
- Full lips
- Long eyelashes
- Long philtrum
Show 20 more traits
- Low frontal hairline
- Low hairline at back of neck
- Thick eyebrow
- Wide mouth
- Bad bite
- Big calvaria
- Broad nasal tip
- Central incisor gap
- Eye folds
- Increased size of incisor
- Nasal tip, upturned
- Short neck
- Wide nasal bridge
- Big sella turcica
- Depressed nasal bridge
- Enlarged posterior fossa
- Full lower lip
- Full upper lip
- Gum enlargement
- Prominent forehead
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). ABCC9 gene: ATP binding cassette subfamily C member 9. Retrieved 17 October 2026, from https://dantelabs.com/genes/abcc9
Dante Labs. ABCC9 gene: ATP binding cassette subfamily C member 9 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/abcc9
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