ABCB8 (ATP binding cassette subfamily B member 8)

2009-03-01  

Identity

HGNC
LOCATION
7q36.1
LOCUSID
ALIAS
EST328128,M-ABC1,MABC1,MITOSUR
FUSION GENES

Other Information

Locus ID:

NCBI: 11194
MIM: 605464
HGNC: 49
Ensembl: ENSG00000197150

Variants:

dbSNP: 11194
ClinVar: 11194
TCGA: ENSG00000197150
COSMIC: ABCB8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197150ENST00000297504Q9NUT2
ENSG00000197150ENST00000358849Q9NUT2
ENSG00000197150ENST00000461373C9JA03
ENSG00000197150ENST00000466514F2Z2Z1
ENSG00000197150ENST00000470645F2Z3G8
ENSG00000197150ENST00000477092C9JTY4
ENSG00000197150ENST00000477719C9JYI3
ENSG00000197150ENST00000482309F2Z2Z1
ENSG00000197150ENST00000488551F2Z3G8
ENSG00000197150ENST00000489192F8WC43
ENSG00000197150ENST00000491920H7C5K9
ENSG00000197150ENST00000498578Q9NUT2
ENSG00000197150ENST00000542328Q9NUT2

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
ABC transportersKEGGko02010
ABC transportersKEGGhsa02010
Transmembrane transport of small moleculesREACTOMER-HSA-382551
ABC-family proteins mediated transportREACTOMER-HSA-382556
Mitochondrial ABC transportersREACTOMER-HSA-1369007

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
191475392009ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome.33
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
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
193430462009Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.3
191517712009Exclusion of ABCB8 and ABCB10 as cancer candidate genes in acute myeloid leukemia.0

Citation

Dessen P

ABCB8 (ATP binding cassette subfamily B member 8)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50723/abcb8