Identity
HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
ABC37,ATFB12,CANTU,CMD1O,SUR2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 10060
MIM: 601439
HGNC: 60
Ensembl: ENSG00000069431
Variants:
dbSNP: 10060
ClinVar: 10060
TCGA: ENSG00000069431
COSMIC: ABCC9
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443450 | Asthma | Disease | ClinicalAnnotation | associated | PK | 28940478 | |
| PA450546 | montelukast | Chemical | ClinicalAnnotation | associated | PK | 28940478 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38217872 | 2024 | Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. | 2 |
| 38217872 | 2024 | Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. | 2 |
| 33356020 | 2021 | Novel cholesterol-dependent regulation of cardiac K(ATP) subunit expression revealed using histone deacetylase inhibitors. | 3 |
| 33432820 | 2021 | Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development. | 17 |
| 33846486 | 2021 | The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia. | 3 |
| 34359961 | 2021 | Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome. | 11 |
| 34711681 | 2021 | Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides. | 24 |
| 33356020 | 2021 | Novel cholesterol-dependent regulation of cardiac K(ATP) subunit expression revealed using histone deacetylase inhibitors. | 3 |
| 33432820 | 2021 | Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development. | 17 |
| 33846486 | 2021 | The expression of ATP-sensitive potassium channels in human umbilical arteries with severe pre-eclampsia. | 3 |
| 34359961 | 2021 | Consequences of SUR2[A478V] Mutation in Skeletal Muscle of Murine Model of Cantu Syndrome. | 11 |
| 34711681 | 2021 | Vascular K(ATP) channel structural dynamics reveal regulatory mechanism by Mg-nucleotides. | 24 |
| 32100467 | 2020 | Three-dimensional facial morphology in Cantú syndrome. | 4 |
| 32198910 | 2020 | Novel variants of ABCC9 in Japanese children with Cantú syndrome. | 0 |
| 32622958 | 2020 | Cantú 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/abcc9-(atp-binding-cassette-subfamily-c-member-9)
