ABCC9 (ATP binding cassette subfamily C member 9)

2012-09-01  

Identity

HGNC
ABCC9
LOCATION
12p12.1
LOCUSID
10060
ALIAS
ABC37,ATFB12,CANTU,CMD1O,SUR2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10060
MIM: 601439
HGNC: 60
Ensembl: ENSG00000069431

Variants:

dbSNP: 10060
ClinVar: 10060
TCGA: ENSG00000069431
COSMIC: ABCC9

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000069431ENST00000261200O60706
ENSG00000069431ENST00000261201O60706
ENSG00000069431ENST00000261201A0A024RAV7
ENSG00000069431ENST00000326684Q8N4N7
ENSG00000069431ENST00000538350G3V1N6
ENSG00000069431ENST00000544039H0YFV4
ENSG00000069431ENST00000621589Q8N4N7
ENSG00000069431ENST00000636888Q8N4N7

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
ATP sensitive Potassium channelsREACTOMER-HSA-1296025
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443450AsthmaDiseaseClinicalAnnotationassociatedPK28940478
PA450546montelukastChemicalClinicalAnnotationassociatedPK28940478

References

Pubmed IDYearTitleCitations
150345802004ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.121
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
221056232013A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila.59
226101162012Dominant missense mutations in ABCC9 cause Cantú syndrome.56
226085032012Cantú syndrome is caused by mutations in ABCC9.50
244398752014ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.39
182391472008The sulfonylurea receptor, an atypical ATP-binding cassette protein, and its regulation of the KATP channel.36
247708812014ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology.33
254703452015Reassessment of risk genotypes (GRN, TMEM106B, and ABCC9 variants) associated with hippocampal sclerosis of aging pathology.23
186631582008Protein kinase C-epsilon induces caveolin-dependent internalization of vascular adenosine 5'-triphosphate-sensitive K+ channels.22

Citation

Dessen P

ABCC9 (ATP binding cassette subfamily C member 9)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52886/abcc9