1. Gene
  2. ABCC9 - ATP binding cassette subfamily C member 9 Gene

ABCC9 - ATP binding cassette subfamily C member 9 Gene

Homo sapiens

Also known as SUR2; ABC37; CANTU; CMD1O; IDMYS; ATFB12

Gene ID: 10060 | Gene type: protein coding

About ABCC9

Cytogenetic location: 12p12.1 Genomic coordinates (GRCh38): 12:21,797,389-21,941,426 (from NCBI)

This gene has 20 transcripts (splice variants), 227 orthologues, 11 paralogues and is associated with 9 phenotypes. Broad expression in fat (RPKM 12.5), liver (RPKM 7.3) and 19 other tissues.


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]

ABCC9 Products(4)

mRNA Protein Name
NM_001377273.1 NP_001364202.1 ATP-binding cassette sub-family C member 9 isoform SUR2B
NM_001377274.1 NP_001364203.1 ATP-binding cassette sub-family C member 9 isoform 5
NM_005691.4 NP_005682.2 ATP-binding cassette sub-family C member 9 isoform SUR2A
NM_020297.4 NP_064693.2 ATP-binding cassette sub-family C member 9 isoform SUR2B

ABCC9 Protein Structure


ABC_membrane: ABC transporter transmembrane region (305 - 585)


ABC_tran: ABC transporter (688 - 839)


ABC_membrane: ABC transporter transmembrane region (994 - 1264)


ABC_tran: ABC transporter (1329 - 1477)

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  • 1549 a.a.
Protein Preferred Names Protein Names

ATP-binding cassette sub-family C member 9

ATP-binding cassette transporter sub-family C member 9

Related Diseases

Diseases Alias
Cantu Syndrome

Hypertrichotic Osteochondrodysplasia

Hypertrichotic Osteochondrodysplasia Cantu Type

Cantú Syndrome

Craniofaciocardioskeletal Syndrome

Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome

Congenital Hypertrichosis-Acromegaloid Facial Features Spectrum

Congenital Hypertrichosis-Coarse Facial Features Spectrum


Osteochondrodysplasia, Hypertrichotic

Atrial Fibrillation, Familial, 12


Fibrillation, Atrial, Familial, Type 12

Cardiomyopathy, Dilated, 1o

Dilated Cardiomyopathy 1o


Dilated Cardiomyopathy With Ventricular Tachycardia

Cardiomyopathy, Dilated, With Ventricular Tachycardia

Cardiomyopathy, Dilated 1o

Cardiomyopathy, Dilated, Type 1o

Intellectual Disability And Myopathy Syndrome


Hypermobile Ehlers-Danlos Syndrome


Ehlers-Danlos Syndrome Type 3

Ehlers-Danlos Syndrome Hypermobility Type

Hypermobile Eds

Joint Hypermobility

Benign Joint Hypermobility Syndrome

Eds Hypermobility Type

Eds Type Iii

Ehlers-Danlos Syndrome Type Iii

Joint Hypermobility Syndrome


Ehlers-Danlos Syndrome, Hypermobility Type

Eds Iii


Patent Ductus Arteriosus 1

Patent Ductus Arteriosus



Ductus Arteriosus, Patent

Patent Ductus Arteriosus, Susceptibility To

Patent Ductus Botalli

Patency Of The Ductus Arteriosus

Patent Ductus Arteriosus Familial

Ductus Arteriosus Patent

Patent Ductus Arteriosus - Persisting Type

Fanconi Anemia, Complementation Group C

Fanconi Anemia Complementation Group C





Fanconi Pancytopenia Type 3

Fanconi Pancytopenia, Type 3

Faces Syndrome

Facial Features , Anorexia, Cachexia, Eye And Skin Anomalies

Friedman-Goodman Syndrome

Abnormality Of The Face

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated


Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy


Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome


Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome



Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1

Brugada Syndrome

Sudden Unexpected Nocturnal Death Syndrome

Sudden Unexplained Nocturnal Death Syndrome


Brugada Type Idiopathic Ventricular Fibrillation

Pokkuri Death Syndrome


Idiopathic Ventricular Fibrillation, Brugada Type

Sudden Unexplained Death

Dream Disease

Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome

Sudden Unexplained Death Syndrome


Sunds - [Sudden Unexplained Nocturnal Death Syndrome]

Wolff-Parkinson-White Syndrome

Wolff-Parkinson-White Pattern

Wpw Syndrome

Anomalous Atrioventricular Excitation

Anomalous A-V Excitation

Ventricular Pre-Excitation With Arrhythmia


Ventricular Familial Preexcitation Syndrome

Preexcitation Syndrome

Ventricular Preexcitation

Wpw - [Wolff-Parkinson- White] Syndrome

Pre-Excitation Syndrome

Familial Atrial Fibrillation

Atrial Fibrillation, Familial


Atrial Fibrillation Autosomal Dominant

Autosomal Dominant Atrial Fibrillation

Auricular Fibrillation

Atrial Fibrillation

Atrial Fibrillation, Familial, 1

Atrial Fibrillation


Fibrillation, Atrial

Af - [Atrial Fibrillation]

Rapid Atrial Fibrillation

A Fib - [Atrial Fibrillation]

Pseudoxanthoma Elasticum


Gronblad-Strandberg Syndrome

Pseudoxanthoma Elasticum, Modifier Of Severity Of

Gronblad-Strandberg-Touraine Syndrome

Gronblad Strandberg Syndrome

Groenblad-Strandberg Syndrome

Nevus Elasticus

Pxe - [Pseudoxanthoma Elasticum]


Skeletal Dysplasia


Congenital Anomaly Of Cartilage


Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv


Muscular Diseases


Anterior Cerebral Artery Infarction

Infarction, Anterior Cerebral Artery

Methylmalonic Aciduria And Homocystinuria, Cbld Type

Homocystinuria, Cbld Type, Variant 1

Methylmalonic Aciduria And Homocystinuria Type Cbld

Vitamin B12-Responsive Methylmalonic Acidemia, Type Cbldv2


Methylmalonic Acidemia And Homocystinuria, Cbld Type

Methylmalonic Aciduria, Cblh Type, Formerly

Methylmalonic Acidemia, Cblh Type, Formerly

Methylmalonic Aciduria, Cbld Type, Variant 2

Cobalamin D Deficiency

Methylcobalamin Deficiency Type Cbldv1

Functional Methionine Synthase Deficiency Type Cbldv1

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cbldv2

Methylmalonic Acidemia With Homocystinuria, Type Cbld

Cbld Defect

Cobalamin D Defect

Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cbld

Methylmalonic Aciduria With Homocystinuria, Type Cbld

Homocystinuria Cbld Variant 1

Methylmalonic Acidemia And Homocystinuria Cbld Type

Methylmalonic Aciduria And Homocystinuria Cbld-Combined

Methylmalonic Aciduria And Homocystinuria Cbld Original

Methylmalonic Aciduria Cbld Variant 2

Aciduria, Methylmalonic, And Homocystinuria, Cbld Type

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1


Hypertrophic Cardiomyopathy 19


Ventricular Hypertrophy, Hereditary


Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1


Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy


Cardiomyopathy, Hypertrophic, Familial, Type 1

Heart Disease

Heart Failure

Congenital Heart Disease

Heart Diseases

Congenital Heart Defects

Congenital Heart Defect

Heart Malformation

Congenital Anomaly Of Heart

Heart Defect

Heart-Congenital Defect

Congenital Heart Disorder

Heart Defects Congenital

Heart Defects, Congenital

Heart Defects

Heart Disease, Congenital

Disease, Heart, Congenital

Congestive Heart Failure

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy

Left Ventricular Hypertrabeculation


Spongy Myocardium

Isolated Noncompaction Of The Ventricular Myocardium

Left Ventricular Myocardial Noncompaction Cardiomyopathy

Fetal Myocardium

Honeycomb Myocardium

Hypertrabeculation Syndrome

Left Ventricular Non-Compaction


Non-Compaction Of The Left Ventricular Myocardium

Ventricular Noncompaction, Left

Non-Compaction Cardiomyopathy

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ABCC9 VGNC VGNC:37444
Macaca mulatta ABCC9 VGNC VGNC:69576
Bos taurus ABCC9 VGNC VGNC:25476
Mus musculus ABCC9 MGD MGI:1352630
Rattus norvegicus ABCC9 RGD RGD:3787
Felis catus ABCC9 VGNC VGNC:67770