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ABCC8

GENERAL INFORMATION

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

RNA tissue category
HPA:Tissue enhanced (cerebral cortex)
GTEx:Tissue enhanced (cerebellum, pituitary gland)
FANTOM5:Tissue enhanced (cerebellum, pituitary gland)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in several tissues, including CNS and pancreas.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA042318 , CAB011451
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Pancreas

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebral cortex)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum, pituitary gland)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (cerebellum, pituitary gland)

GENE INFORMATION

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 83.38)

Entrez gene

 6833

UniProt

 Q09428 (UniProt - Evidence at protein level)

neXtProt

 NX_Q09428

Antibodypedia

 ABCC8 antibodies

PROTEIN BROWSER
ABCC8-001
ABCC8-012
ABCC8-201
ABCC8-202

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABCC8-001
ENSP00000374467
ENST00000389817
Q09428 [Direct mapping]
ATP-binding cassette sub-family C member 8
Show all
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005267 [potassium channel activity]
GO:0005524 [ATP binding]
GO:0005886 [plasma membrane]
GO:0005975 [carbohydrate metabolic process]
GO:0006112 [energy reserve metabolic process]
GO:0006810 [transport]
GO:0006813 [potassium ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0008076 [voltage-gated potassium channel complex]
GO:0008281 [sulfonylurea receptor activity]
GO:0015079 [potassium ion transmembrane transporter activity]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0044281 [small molecule metabolic process]
GO:0044325 [ion channel binding]
GO:0050796 [regulation of insulin secretion]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
 1581 aa
177 kDa 		No >9
ABCC8-012
ENSP00000433638
ENST00000528374
H0YDH8 [Direct mapping]
ATP-binding cassette sub-family C member 8
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Show all
GO:0005524 [ATP binding]
GO:0006810 [transport]
GO:0006813 [potassium ion transport]
GO:0007165 [signal transduction]
GO:0008281 [sulfonylurea receptor activity]
GO:0016021 [integral component of membrane]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0055085 [transmembrane transport]
Show all
 204 aa
22.7 kDa 		No 2
ABCC8-201
ENSP00000303960
ENST00000302539
Q09428 [Direct mapping]
ATP-binding cassette sub-family C member 8
Show all
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   >9TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005267 [potassium channel activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005886 [plasma membrane]
GO:0005975 [carbohydrate metabolic process]
GO:0006112 [energy reserve metabolic process]
GO:0006810 [transport]
GO:0006813 [potassium ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0008076 [voltage-gated potassium channel complex]
GO:0008281 [sulfonylurea receptor activity]
GO:0009268 [response to pH]
GO:0010043 [response to zinc ion]
GO:0015079 [potassium ion transmembrane transporter activity]
GO:0016021 [integral component of membrane]
GO:0016887 [ATPase activity]
GO:0019905 [syntaxin binding]
GO:0030672 [synaptic vesicle membrane]
GO:0032496 [response to lipopolysaccharide]
GO:0032868 [response to insulin]
GO:0042383 [sarcolemma]
GO:0042493 [response to drug]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0043268 [positive regulation of potassium ion transport]
GO:0044281 [small molecule metabolic process]
GO:0044325 [ion channel binding]
GO:0046676 [negative regulation of insulin secretion]
GO:0050796 [regulation of insulin secretion]
GO:0055085 [transmembrane transport]
GO:0071310 [cellular response to organic substance]
GO:0071805 [potassium ion transmembrane transport]
Show all
 1582 aa
177.1 kDa 		No >9
ABCC8-202
ENSP00000483031
ENST00000612903
Q09428 [Direct mapping]
ATP-binding cassette sub-family C member 8
Show all
Transporters
   Primary Active Transporters
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
FDA approved drug targets
   Small molecule drugs
Show all
GO:0005267 [potassium channel activity]
GO:0005524 [ATP binding]
GO:0005886 [plasma membrane]
GO:0005975 [carbohydrate metabolic process]
GO:0006112 [energy reserve metabolic process]
GO:0006813 [potassium ion transport]
GO:0007165 [signal transduction]
GO:0007268 [synaptic transmission]
GO:0008076 [voltage-gated potassium channel complex]
GO:0008281 [sulfonylurea receptor activity]
GO:0015079 [potassium ion transmembrane transporter activity]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0044281 [small molecule metabolic process]
GO:0044325 [ion channel binding]
GO:0050796 [regulation of insulin secretion]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
 50 aa
5.5 kDa 		No 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.