Tbio ABCG8 ATP-binding cassette sub-family G member 8

Protein Classes

PANTHER Classes

Protein / Transporter / Atp-binding Cassette (Abc) Transporter / Atp-binding Cassette Sub-family G Member 8

DTO Classes

Protein / Transporter / Atp-binding Cassette Transporter Family / Abcg Subfamily / Atp-binding Cassette Sub-family G Member 8

Protein Summary

Description

ABCG5 and ABCG8 form an obligate heterodimer that mediates Mg(2+)- and ATP-dependent sterol transport across the cell membrane. Plays an essential role in the selective transport of the dietary cholesterol in and out of the enterocytes and in the selective sterol excretion by the liver into bile (PubMed:11099417, PubMed:11452359, PubMed:27144356, PubMed:15054092). Required for normal sterol homeostasis (PubMed:11099417, PubMed:11452359, PubMed:15054092). The heterodimer with ABCG5 has ATPase activity (PubMed:16893193, PubMed:20210363, PubMed:27144356). 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]

Uniprot Accession IDs

• Q9H221
• Q53QN8

Gene Name

• ABCG8

Ensembl ID

• ENST00000272286
• ENSP00000272286
• ENSG00000143921
• ENST00000645013
• ENSP00000496450

Symbol

• GBD4
• STSL

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.98
trait	0.75
biological term	0.68
cell line	0.67
disease	0.67

Related Tools

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 209.26   (req: < 5)

Gene RIFs: 82   (req: <= 3)

Antibodies: 290   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 209.26   (req: >= 5)

Gene RIFs: 82   (req: > 3)

Antibodies: 290   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 15

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

GWAS Traits (14)

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 14

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
low density lipoprotein cholesterol measurement	EFO_0004611	11	10	17	3.5	99.6
gallstones	EFO_0004210	4	2	0	1.8	99.6
total cholesterol measurement	EFO_0004574	8	10	13	3.6	99
phytosterol measurement	EFO_0004862	1	2	0	13	98.6
coronary artery disease	EFO_0001645	6	4	4	1.1	87.6

• Explore on Target Illumination GWAS Analytics (TIGA)

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GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
low density lipoprotein cholesterol measurement	EFO_0004611	17	3.5	99.6
gallstones	EFO_0004210	0	1.8	99.6
total cholesterol measurement	EFO_0004574	13	3.6	99
phytosterol measurement	EFO_0004862	0	13	98.6
coronary artery disease	EFO_0001645	4	1.1	87.6

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Orthologs (12)

1 – 5 of 12

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	ATP binding cassette subfamily G member 8	VGNC:4	470363
Macaque	ATP binding cassette subfamily G member 8		713676
Mouse	ATP binding cassette subfamily G member 8	MGI:1914720	67470
Rat	ATP binding cassette subfamily G member 8	RGD:620300	155192
Dog	ATP binding cassette subfamily G member 8	VGNC:37455	474571

Species	Name	OMA	EggNOG	Inparanoid
Chimp	ATP binding cassette subfamily G member 8
Macaque	ATP binding cassette subfamily G member 8
Mouse	ATP binding cassette subfamily G member 8
Rat	ATP binding cassette subfamily G member 8
Dog	ATP binding cassette subfamily G member 8

Protein Structure (1 Structure, 1 AlphaFold Model)

Representation

  axes   backbone   ball+stick   cartoon   rocket   rope   spacefill

Color Scheme

  target   atomindex   bfactor   chainname   electrostatic   element   hydrophobicity   resname   sstruc

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q9H221-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 1 of 1

PDB Structure Id	Ligand	Method	Resolution (Å)	Residues	Fraction of Total Protein	Pub Year	Title

PDB Structure Id	Fraction of Total Protein	Resolution	Pub Year

Pathways (18)

Reactome (8)

KEGG (4)

WikiPathways (6)

ABC transporter disorders (R-HSA-5619084)

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Find Similar Targets

Items per page:

5

1 – 5 of 8

Data Source	Name	Explore in Pharos	Explore in Source
Reactome	ABC transporter disorders	78 targets	R-HSA-5619084
Reactome	ABC transporters in lipid homeostasis	18 targets	R-HSA-1369062
Reactome	ABC-family proteins mediated transport	104 targets	R-HSA-382556
Reactome	Defective ABCG5 causes sitosterolemia	2 targets	R-HSA-5679096
Reactome	Defective ABCG8 causes gallbladder disease 4 and sitosterolemia	2 targets	R-HSA-5679090

Name	Explore in Pharos	Explore in Source
ABC transporter disorders	78 targets	R-HSA-5619084
ABC transporters in lipid homeostasis	18 targets	R-HSA-1369062
ABC-family proteins mediated transport	104 targets	R-HSA-382556
Defective ABCG5 causes sitosterolemia	2 targets	R-HSA-5679096
Defective ABCG8 causes gallbladder disease 4 and sitosterolemia	2 targets	R-HSA-5679090

Gene Ontology Terms (20)

Functions (6)

Components (5)

Processes (9)

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Items per page:

10

1 – 6 of 6

GO Term	Evidence	Assigned by
ATPase activity, coupled to transmembrane movement of substances	Inferred from Direct Assay (IDA)	UniProtKB
protein heterodimerization activity	Inferred from Physical Interaction (IPI)	BHF-UCL
drug transmembrane transporter activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
ATP binding	Inferred from Electronic Annotation (IEA)	InterPro
cholesterol transporter activity	Inferred from Electronic Annotation (IEA)	Ensembl
metal ion binding	Inferred from Electronic Annotation (IEA)	UniProtKB-KW

Protein-Protein Interactions (103)

Explore Interacting Targets

1 – 10 of 103

• See Interactions on String-DB

TSPAN3

Tbio

Novelty: 0.06362133

p_int: 0.9870562

p_ni: 0.012943793

p_wrong: 7e-9

Score: 0.561

Data Source: BioPlex,STRINGDB

PTPRD

Tbio

Family: Enzyme

Novelty: 0.01059407

p_int: 0.952630415

p_ni: 0.047356817

p_wrong: 0.000012768

Score: 0.175

Data Source: BioPlex,STRINGDB

CD320

Tbio

Novelty: 0.01978884

p_int: 0.875302535

p_ni: 0.124694465

p_wrong: 0.000002999

Score: 0.561

Data Source: BioPlex,STRINGDB

NOTCH3

Tchem

Novelty: 0.000953

p_int: 0.767712072

p_ni: 0.228493585

p_wrong: 0.003794343

Score: 0.795

Data Source: BioPlex,STRINGDB

TMEM184B

Tdark

Novelty: 0.35340207

p_int: 0.757074799

p_ni: 0.121483708

p_wrong: 0.121441493

Score: 0.248

Data Source: BioPlex,STRINGDB

ABCG5

Tbio

Family: Transporter

Novelty: 0.00340812

Score: 0.992

Data Source: Reactome,STRINGDB

ABCD4

Tbio

Family: Transporter

Novelty: 0.04096359

Score: 0.944

Data Source: STRINGDB

ABCB6

Tbio

Family: Transporter

Novelty: 0.00552057

Score: 0.927

Data Source: STRINGDB

ABCA2

Tbio

Family: Transporter

Novelty: 0.02208136

Score: 0.922

Data Source: STRINGDB

ATP1A4

Tclin

Family: Transporter

Novelty: 0.01011201

Score: 0.903

Data Source: STRINGDB

Publication Statistics

PubMed Score  209.26

PubMed score by year

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PubTator Score  125.67

PubTator score by year

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Amino Acid Sequence

Residue Counts

Protein Sequence

Show Full Sequence

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UniProt Keyword Find Similar Targets

3D-structure
Alternative splicing
Cell membrane
Complete proteome
Disease mutation
Glycoprotein
Lipid transport
Magnesium
Membrane
Metal-binding

GWAS Trait Find Similar Targets

Antithrombotic agent use measurement
apolipoprotein B measurement
blood metabolite measurement
coronary artery disease
esterified cholesterol measurement
gallstones
HMG CoA reductase inhibitor use measurement
lipid measurement
lipoprotein measurement
low density lipoprotein cholesterol measurement

MGI Phenotype Find Similar Targets

homeostasis/metabolism phenotype
liver/biliary system phenotype