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
382178722024Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.2
382178722024Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.2
333560202021Novel cholesterol-dependent regulation of cardiac K(ATP) subunit expression revealed using histone deacetylase inhibitors.3
334328202021Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.17
338464862021The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.3
343599612021Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.11
347116812021Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.24
333560202021Novel cholesterol-dependent regulation of cardiac K(ATP) subunit expression revealed using histone deacetylase inhibitors.3
334328202021Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.17
338464862021The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia.3
343599612021Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome.11
347116812021Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides.24
321004672020Three-dimensional facial morphology in Cantú syndrome.4
321989102020Novel variants of ABCC9 in Japanese children with Cantú syndrome.0
326229582020Cantú syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.7

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/gene-fusions-explorer/js/deep-insight-explorer/