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ABCG8

GENERAL INFORMATION

Gene name

 ABCG8

Gene description

 ATP-binding cassette, sub-family G (WHITE), member 8

Protein class

 Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Group enriched (small intestine, duodenum, liver)
GTEx:Tissue enriched (liver)
FANTOM5:Group enriched (small intestine, liver, colon)

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Uncertain based on 1 antibody.
HPA019556
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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

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (small intestine, duodenum, liver)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (liver)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Group enriched (small intestine, liver, colon)

GENE INFORMATION

Gene name

 ABCG8 (HGNC Symbol)

Synonyms

 GBD4

Description

 ATP-binding cassette, sub-family G (WHITE), 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 White subfamily. The protein encoded by this gene functions to exclude non-cholesterol sterol entry at the intestinal level, promote excretion of cholesterol and sterols into bile, and to facilitate transport of sterols back into the intestinal lumen. It is expressed in a tissue-specific manner in the liver, intestine, and gallbladder. This gene is tandemly arrayed on chromosome 2, in a head-to-head orientation with family member ABCG5. Mutations in this gene may contribute to sterol accumulation and atherosclerosis, and have been observed in patients with sitosterolemia. [provided by RefSeq, Jul 2008]

Chromosome

 2

Cytoband

 p21

Chromosome location (bp)

 43838964 - 43878466

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000143921 (version 83.38)

Entrez gene

 64241

UniProt

 Q9H221 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9H221

Antibodypedia

 ABCG8 antibodies

PROTEIN BROWSER
ABCG8-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ABCG8-001
ENSP00000272286
ENST00000272286
Q9H221 [Direct mapping]
ATP-binding cassette sub-family G member 8
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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
   7TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
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GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005886 [plasma membrane]
GO:0007584 [response to nutrient]
GO:0007588 [excretion]
GO:0010949 [negative regulation of intestinal phytosterol absorption]
GO:0015248 [sterol transporter activity]
GO:0015914 [phospholipid transport]
GO:0015918 [sterol transport]
GO:0016020 [membrane]
GO:0016324 [apical plasma membrane]
GO:0016887 [ATPase activity]
GO:0017127 [cholesterol transporter activity]
GO:0030299 [intestinal cholesterol absorption]
GO:0033344 [cholesterol efflux]
GO:0042493 [response to drug]
GO:0042626 [ATPase activity, coupled to transmembrane movement of substances]
GO:0042632 [cholesterol homeostasis]
GO:0043190 [ATP-binding cassette (ABC) transporter complex]
GO:0043235 [receptor complex]
GO:0044281 [small molecule metabolic process]
GO:0045796 [negative regulation of intestinal cholesterol absorption]
GO:0046982 [protein heterodimerization activity]
GO:0055085 [transmembrane transport]
GO:0055092 [sterol homeostasis]
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 673 aa
75.7 kDa 		No 7

Contact

The Project

The Human Protein Atlas

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