ABCC8 (ATP binding cassette subfamily C member 8)

2013-12-01 Affiliation

Identity

HGNC

ABCC8

LOCATION

11p15.1

LOCUSID

6833

ALIAS

ABC36,HHF1,HI,HRINS,MRP8,PHHI,PNDM3,SUR,SUR1,SUR1delta2,TNDM2

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000006071	ENST00000302539	Q09428
ENSG00000006071	ENST00000389817	Q09428
ENSG00000006071	ENST00000526168	H0YF51
ENSG00000006071	ENST00000527905	E9PK50
ENSG00000006071	ENST00000528374	H0YDH8
ENSG00000006071	ENST00000531642	H0YEA9
ENSG00000006071	ENST00000531891	H0YE33
ENSG00000006071	ENST00000532728	A0A2R8Y6B7
ENSG00000006071	ENST00000612903	Q09428
ENSG00000006071	ENST00000642271	A0A2R8YDG0
ENSG00000006071	ENST00000642579	A0A2R8YHG6
ENSG00000006071	ENST00000642902	A0A2R8Y3M7
ENSG00000006071	ENST00000643260	A0A2R8Y5D8
ENSG00000006071	ENST00000643562	A0A2R8Y7I1
ENSG00000006071	ENST00000643925	A0A2R8YG67
ENSG00000006071	ENST00000644447	A0A2R8YGQ6
ENSG00000006071	ENST00000644472	A0A2R8Y698
ENSG00000006071	ENST00000644484	A0A2R8YCG4
ENSG00000006071	ENST00000644542	Q09428
ENSG00000006071	ENST00000644649	A0A2R8YDE9
ENSG00000006071	ENST00000644675	A0A2R8YDG6
ENSG00000006071	ENST00000644757	A0A2R8Y5V4
ENSG00000006071	ENST00000644772	A0A2R8Y4V0
ENSG00000006071	ENST00000645076	A0A2R8Y5X1
ENSG00000006071	ENST00000645417	A0A2R8Y775
ENSG00000006071	ENST00000645744	A0A2R8Y5I7
ENSG00000006071	ENST00000645760	A0A2R8YFB3
ENSG00000006071	ENST00000645884	A0A2R8YEE5
ENSG00000006071	ENST00000646003	A0A2R8Y6I7
ENSG00000006071	ENST00000646207	A0A2R8YDX3
ENSG00000006071	ENST00000646276	A0A2R8Y781
ENSG00000006071	ENST00000646592	A0A2R8YDB5
ENSG00000006071	ENST00000646737	A0A2R8Y605
ENSG00000006071	ENST00000646902	A0A2R8Y4Z4
ENSG00000006071	ENST00000646993	A0A2R8Y475
ENSG00000006071	ENST00000647013	A0A2R8YFU3
ENSG00000006071	ENST00000647015	A0A2R8Y6Q0
ENSG00000006071	ENST00000647086	A0A2R8YD94
ENSG00000006071	ENST00000647158	A0A2R8Y6I7

Expression (GTEx)

100

150

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

Pathway	Source	External ID
ABC transporters	KEGG	ko02010
Type II diabetes mellitus	KEGG	ko04930
ABC transporters	KEGG	hsa02010
Type II diabetes mellitus	KEGG	hsa04930
Insulin secretion	KEGG	hsa04911
Neuronal System	REACTOME	R-HSA-112316
Potassium Channels	REACTOME	R-HSA-1296071
Inwardly rectifying K+ channels	REACTOME	R-HSA-1296065
ATP sensitive Potassium channels	REACTOME	R-HSA-1296025
Disease	REACTOME	R-HSA-1643685
Disorders of transmembrane transporters	REACTOME	R-HSA-5619115
ABC transporter disorders	REACTOME	R-HSA-5619084
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
ABC-family proteins mediated transport	REACTOME	R-HSA-382556
Metabolism	REACTOME	R-HSA-1430728
Integration of energy metabolism	REACTOME	R-HSA-163685
Regulation of insulin secretion	REACTOME	R-HSA-422356
Defective ABCC8 can cause hypoglycemias and hyperglycemias	REACTOME	R-HSA-5683177

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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)