ABCG4 (ATP binding cassette subfamily G member 4)

2016-05-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
WHITE2

Other Information

Locus ID:

NCBI: 64137
MIM: 607784
HGNC: 13884
Ensembl: ENSG00000172350

Variants:

dbSNP: 64137
ClinVar: 64137
TCGA: ENSG00000172350
COSMIC: ABCG4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172350ENST00000524604E9PJ00
ENSG00000172350ENST00000615496Q9H172
ENSG00000172350ENST00000619701Q9H172
ENSG00000172350ENST00000622721Q9H172

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
ABC transporters in lipid homeostasisREACTOMER-HSA-1369062

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
169022472006ABCA1 and ABCG1 or ABCG4 act sequentially to remove cellular cholesterol and generate cholesterol-rich HDL.91
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
223912202012ABCG2- and ABCG4-mediated efflux of amyloid-β peptide 1-40 at the mouse blood-brain barrier.22
116060682001The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages.17
262968932015The E3 ubiquitin ligases, HUWE1 and NEDD4-1, are involved in the post-translational regulation of the ABCG1 and ABCG4 lipid transporters.14
199489752009Integrative predictive model of coronary artery calcification in atherosclerosis.13
118568812001Human and mouse orthologs of a new ATP-binding cassette gene, ABCG4.12
185080372008ATP-binding cassette transporter G4 is highly expressed in microglia in Alzheimer's brain.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

ABCG4 (ATP binding cassette subfamily G member 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/gene/55783/abcg4-(atp-binding-cassette-subfamily-g-member-4)