ABCC8

GENERAL INFORMATION

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Gene name

ABCC8

Gene description

ATP-binding cassette, sub-family C (CFTR/MRP), member 8

Protein class

Disease related genes
FDA approved drug targets
Plasma proteins
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

4
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (cerebral cortex)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous cytoplasmic expression.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 2 antibodies.
HPA042318 , CAB011451
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



GENE INFORMATION

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Gene name

ABCC8 (HGNC Symbol)

Synonyms

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

Description

ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a modulator of ATP-sensitive potassium channels and insulin release. Mutations and deficiencies in this protein have been observed in patients with hyperinsulinemic hypoglycemia of infancy, an autosomal recessive disorder of unregulated and high insulin secretion. Mutations have also been associated with non-insulin-dependent diabetes mellitus type II, an autosomal dominant disease of defective insulin secretion. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]

Chromosome

11

Cytoband

p15.1

Chromosome location (bp)

17392885 - 17476845

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000006071 (version 78.38)

Entrez gene

6833

UniProt

Q09428 (UniProt - Evidence at protein level)

neXtProt

NX_Q09428

Antibodypedia

ABCC8 antibodies


PROTEIN BROWSER

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ENST00000302539
 
ENST00000389817
 
ENST00000528374
 
ENST00000612903
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCC8-001 ENSP00000374467
ENST00000389817
Q09428
Show all »
Show » Show » 1581 177 No >9
ABCC8-012 ENSP00000433638
ENST00000528374
Show » Show » 204 22.7 No 2
ABCC8-201 ENSP00000303960
ENST00000302539
Q09428
Show all »
Show » Show » 1582 177.1 No >9
ABCC8-202 ENSP00000483031
ENST00000612903
Q09428
Show all »
Show » Show » 50 5.5 No 1