ABCC9 - ATP binding cassette subfamily C member 9 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10060

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.

Summary

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATPase-coupled transmembrane transporter activity	IDA IDA: Inferred from direct assay	26181369	GOA
contributes to potassium channel activity	IMP IMP: Inferred from mutant phenotype	24439875	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	20610380	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cardiac conduction	IMP IMP: Inferred from mutant phenotype	24439875	GOA
acts upstream of or within defense response to virus	IMP IMP: Inferred from mutant phenotype	18026101	GOA
involved in potassium ion transmembrane transport	IMP IMP: Inferred from mutant phenotype	24439875	GOA
involved in response to ATP	IMP IMP: Inferred from mutant phenotype	24439875	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of inward rectifying potassium channel	IDA IDA: Inferred from direct assay	20610380	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCC9 Protein Structure

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
300
600
900
1200
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 HTOCD Osteochondrodysplasia, Hypertrichotic
Atrial Fibrillation, Familial, 12	ATFB12 Fibrillation, Atrial, Familial, Type 12
Cardiomyopathy, Dilated, 1o	Dilated Cardiomyopathy 1o CMD1O Dilated Cardiomyopathy With Ventricular Tachycardia Cardiomyopathy, Dilated, With Ventricular Tachycardia Cardiomyopathy, Dilated 1o Cardiomyopathy, Dilated, Type 1o
Intellectual Disability And Myopathy Syndrome	IDMYS
Epicanthus
Hypermobile Ehlers-Danlos Syndrome	Heds 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 Eds3 Ehlers-Danlos Syndrome, Hypermobility Type Eds Iii Eds-Ht
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda 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 FANCC Facc Fac Fa3 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 DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc 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 KLEFS1 Chromosome 9q34.3 Deletion Syndrome 9q- Syndrome 9q34 Deletion Syndrome Kleefstra Syndrome Due To 9q34 Microdeletion Kleefstra Syndrome 9q-Syndrome 9qstds 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
Hypertrichosis
Brugada Syndrome	Sudden Unexpected Nocturnal Death Syndrome Sudden Unexplained Nocturnal Death Syndrome Bangungut Brugada Type Idiopathic Ventricular Fibrillation Pokkuri Death Syndrome Sunds 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 Suds 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 WPWS Ventricular Familial Preexcitation Syndrome Preexcitation Syndrome Ventricular Preexcitation Wpw - [Wolff-Parkinson- White] Syndrome Pre-Excitation Syndrome
Familial Atrial Fibrillation	Atrial Fibrillation, Familial Atfb Atrial Fibrillation Autosomal Dominant Autosomal Dominant Atrial Fibrillation Auricular Fibrillation Atrial Fibrillation Atrial Fibrillation, Familial, 1
Atrial Fibrillation	A-Fib Fibrillation, Atrial Af - [Atrial Fibrillation] Rapid Atrial Fibrillation A Fib - [Atrial Fibrillation]
Pseudoxanthoma Elasticum	PXE Gronblad-Strandberg Syndrome Pseudoxanthoma Elasticum, Modifier Of Severity Of Gronblad-Strandberg-Touraine Syndrome Gronblad Strandberg Syndrome Groenblad-Strandberg Syndrome Nevus Elasticus Pxe - [Pseudoxanthoma Elasticum]
Arteriolosclerosis
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Myopathy	Muscular Diseases Myopathies
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 MAHCD 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 CMH1 Hypertrophic Cardiomyopathy 19 CMH Ventricular Hypertrophy, Hereditary Ash Hypertrophic Subaortic Stenosis, Idiopathic Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Hypertrophic, 1, Digenic Cardiomyopathy, Familial Hypertrophic 1 Hcm Hereditary Ventricular Hypertrophy Idiopathic Hypertrophic Subaortic Stenosis Hypertrophic Cardiomyopathy Cardiomyopathy, Hypertrophic, Familial Cardiomyopathy, Hypertrophic, 1 Familial Asymmetric Septal Hypertrophy Heritable Hypertrophic Cardiomyopathy Fhc 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 Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht 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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00067	ABCC9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22364	Abcc9 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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
Others	ABCC9	NCBI