ABCA8 (ATP binding cassette subfamily A member 8)

2017-08-01  

Identity

HGNC
LOCATION
17q24.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 10351
MIM: 612505
HGNC: 38
Ensembl: ENSG00000141338

Variants:

dbSNP: 10351
ClinVar: 10351
TCGA: ENSG00000141338
COSMIC: ABCA8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141338ENST00000269080O94911
ENSG00000141338ENST00000269080A0A024R8L6
ENSG00000141338ENST00000430352A0A0A0MSU4
ENSG00000141338ENST00000585531K7ELK9
ENSG00000141338ENST00000586539O94911
ENSG00000141338ENST00000589533A0A075B774
ENSG00000141338ENST00000615593Q49AI9

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
217070712011Transcriptomic and quantitative proteomic analysis of transporters and drug metabolizing enzymes in freshly isolated human brain microvessels.85
123792172002Functional analysis of ABCA8, a new drug transporter.14
239489912013Increased expression of ABCA8 in multiple system atrophy brain is associated with changes in pathogenic proteins.12
288828732017ABCA8 Regulates Cholesterol Efflux and High-Density Lipoprotein Cholesterol Levels.12
284685772017ABC gene expression profiles have clinical importance and possibly form a new hallmark of cancer.10
235607992013ABCA8 stimulates sphingomyelin production in oligodendrocytes.9
293004882018ATP-Binding Cassette Transporter A Subfamily 8 Is a Sinusoidal Efflux Transporter for Cholesterol and Taurocholate in Mouse and Human Liver.5
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3

Citation

Dessen P

ABCA8 (ATP binding cassette subfamily A member 8)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56940/abca8