ABCC8 (ATP binding cassette subfamily C member 8)

2013-12-01  

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

Other Information

Locus ID:

NCBI: 6833
MIM: 600509
HGNC: 59
Ensembl: ENSG00000006071

Variants:

dbSNP: 6833
ClinVar: 6833
TCGA: ENSG00000006071
COSMIC: ABCC8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006071ENST00000302539Q09428
ENSG00000006071ENST00000389817Q09428
ENSG00000006071ENST00000526168H0YF51
ENSG00000006071ENST00000527905E9PK50
ENSG00000006071ENST00000528374H0YDH8
ENSG00000006071ENST00000531642H0YEA9
ENSG00000006071ENST00000531891H0YE33
ENSG00000006071ENST00000532728A0A2R8Y6B7
ENSG00000006071ENST00000612903Q09428
ENSG00000006071ENST00000642271A0A2R8YDG0
ENSG00000006071ENST00000642579A0A2R8YHG6
ENSG00000006071ENST00000642902A0A2R8Y3M7
ENSG00000006071ENST00000643260A0A2R8Y5D8
ENSG00000006071ENST00000643562A0A2R8Y7I1
ENSG00000006071ENST00000643925A0A2R8YG67
ENSG00000006071ENST00000644447A0A2R8YGQ6
ENSG00000006071ENST00000644472A0A2R8Y698
ENSG00000006071ENST00000644484A0A2R8YCG4
ENSG00000006071ENST00000644542Q09428
ENSG00000006071ENST00000644649A0A2R8YDE9
ENSG00000006071ENST00000644675A0A2R8YDG6
ENSG00000006071ENST00000644757A0A2R8Y5V4
ENSG00000006071ENST00000644772A0A2R8Y4V0
ENSG00000006071ENST00000645076A0A2R8Y5X1
ENSG00000006071ENST00000645417A0A2R8Y775
ENSG00000006071ENST00000645744A0A2R8Y5I7
ENSG00000006071ENST00000645760A0A2R8YFB3
ENSG00000006071ENST00000645884A0A2R8YEE5
ENSG00000006071ENST00000646003A0A2R8Y6I7
ENSG00000006071ENST00000646207A0A2R8YDX3
ENSG00000006071ENST00000646276A0A2R8Y781
ENSG00000006071ENST00000646592A0A2R8YDB5
ENSG00000006071ENST00000646737A0A2R8Y605
ENSG00000006071ENST00000646902A0A2R8Y4Z4
ENSG00000006071ENST00000646993A0A2R8Y475
ENSG00000006071ENST00000647013A0A2R8YFU3
ENSG00000006071ENST00000647015A0A2R8Y6Q0
ENSG00000006071ENST00000647086A0A2R8YD94
ENSG00000006071ENST00000647158A0A2R8Y6I7

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
ABC transportersKEGGko02010
Type II diabetes mellitusKEGGko04930
ABC transportersKEGGhsa02010
Type II diabetes mellitusKEGGhsa04930
Insulin secretionKEGGhsa04911
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Inwardly rectifying K+ channelsREACTOMER-HSA-1296065
ATP sensitive Potassium channelsREACTOMER-HSA-1296025
DiseaseREACTOMER-HSA-1643685
Disorders of transmembrane transportersREACTOMER-HSA-5619115
ABC transporter disordersREACTOMER-HSA-5619084
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
MetabolismREACTOMER-HSA-1430728
Integration of energy metabolismREACTOMER-HSA-163685
Regulation of insulin secretionREACTOMER-HSA-422356
Defective ABCC8 can cause hypoglycemias and hyperglycemiasREACTOMER-HSA-5683177

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10390sulfonamides, urea derivativesChemicalClinicalAnnotationassociatedPD24442125
PA443886Diabetes MellitusDiseaseClinicalAnnotationassociatedPD24442125

References

Pubmed IDYearTitleCitations
382127722024Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.1
384111502024An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.0
384890432024Dynamic duo: Kir6 and SUR in K(ATP) channel structure and function.1
382127722024Genetic variants of ABCC8 and clinical manifestations in eight Chinese children with hyperinsulinemic hypoglycemia.1
384111502024An analysis of the relationship between ABCC8 and KCNJ11 gene polymorphisms and diabetic retinopathy in Turkish population.0
384890432024Dynamic duo: Kir6 and SUR in K(ATP) channel structure and function.1
365042952023Targeted 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
369447582023The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.0
370527552023Repurposing antidiabetic drugs for rheumatoid arthritis: results from a two-sample Mendelian randomization study.5
372169042023Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.2
378399222023Protein expression and localization of ABC transporters in pancreatic adenocarcinoma: Prognostic role of ABCC8.0
381647082023Effects of the ABCC8 R1420H loss-of-function variant on beta-cell function, diabetes incidence, and retinopathy.0
365042952023Targeted 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
369447582023The Arg1379His mutation in ABCC8 causes monogenic diabetes with variable phenotype presentation and incomplete penetrance.0
370527552023Repurposing 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/gene-fusions-explorer/gene-fusions/?id=52464