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.

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

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

Bioactive Molecules (1)

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

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