Identity
HGNC
LOCATION
11p15.1
LOCUSID
ALIAS
ABC36,HHF1,HI,HRINS,MRP8,PHHI,PNDM3,SUR,SUR1,SUR1delta2,TNDM2
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: 6833
MIM: 600509
HGNC: 59
Ensembl: ENSG00000006071
Variants:
dbSNP: 6833
ClinVar: 6833
TCGA: ENSG00000006071
COSMIC: ABCC8
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10390 | sulfonamides, urea derivatives | Chemical | ClinicalAnnotation | associated | PD | 24442125 | |
| PA443886 | Diabetes Mellitus | Disease | ClinicalAnnotation | associated | PD | 24442125 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38212772 | 2024 | Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia. | 1 |
| 38411150 | 2024 | An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population. | 0 |
| 38489043 | 2024 | Dynamic duo: Kir6 and SUR in K(ATP) channel structure and function. | 1 |
| 38212772 | 2024 | Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia. | 1 |
| 38411150 | 2024 | An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population. | 0 |
| 38489043 | 2024 | Dynamic duo: Kir6 and SUR in K(ATP) channel structure and function. | 1 |
| 36504295 | 2023 | Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes. | 2 |
| 36944758 | 2023 | The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance. | 0 |
| 37052755 | 2023 | Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study. | 5 |
| 37216904 | 2023 | Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8. | 2 |
| 37839922 | 2023 | Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8. | 0 |
| 38164708 | 2023 | Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy. | 0 |
| 36504295 | 2023 | Targeted gene panel analysis of Japanese patients with maturity-onset diabetes of the young-like diabetes mellitus: Roles of inactivating variants in the ABCC8 and insulin resistance genes. | 2 |
| 36944758 | 2023 | The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance. | 0 |
| 37052755 | 2023 | Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study. | 5 |
Citation
Dessen P
ABCC8 (ATP binding cassette subfamily C member 8)
Atlas Genet Cytogenet Oncol Haematol. 2013-12-01
Online version: http://atlasgeneticsoncology.org/gene/52464/abcc8-(atp-binding-cassette-subfamily-c-member-8)
