ABCB8 (ATP binding cassette subfamily B member 8)

2009-03-01 Affiliation

Identity

HGNC

ABCB8

LOCATION

7q36.1

LOCUSID

11194

ALIAS

EST328128,M-ABC1,MABC1,MITOSUR

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000197150	ENST00000297504	Q9NUT2
ENSG00000197150	ENST00000358849	Q9NUT2
ENSG00000197150	ENST00000461373	C9JA03
ENSG00000197150	ENST00000466514	F2Z2Z1
ENSG00000197150	ENST00000470645	F2Z3G8
ENSG00000197150	ENST00000477092	C9JTY4
ENSG00000197150	ENST00000477719	C9JYI3
ENSG00000197150	ENST00000482309	F2Z2Z1
ENSG00000197150	ENST00000488551	F2Z3G8
ENSG00000197150	ENST00000489192	F8WC43
ENSG00000197150	ENST00000491920	H7C5K9
ENSG00000197150	ENST00000498578	Q9NUT2
ENSG00000197150	ENST00000542328	Q9NUT2

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
ABC transporters	KEGG	ko02010
ABC transporters	KEGG	hsa02010
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
ABC-family proteins mediated transport	REACTOME	R-HSA-382556
Mitochondrial ABC transporters	REACTOME	R-HSA-1369007

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33835027	2021	Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.	6
33872987	2021	Cryo-EM structure of human ABCB8 transporter in nucleotide binding state.	2
33835027	2021	Augmenter of liver regeneration regulates cellular iron homeostasis by modulating mitochondrial transport of ATP-binding cassette B8.	6
33872987	2021	Cryo-EM structure of human ABCB8 transporter in nucleotide binding state.	2
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	15
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
19147539	2009	ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome.	48
19151771	2009	Exclusion of ABCB8 and ABCB10 as cancer candidate genes in acute myeloid leukemia.	0
19343046	2009	Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.	4
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	105
19147539	2009	ABCB8 mediates doxorubicin resistance in melanoma cells by protecting the mitochondrial genome.	48

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-(atp-binding-cassette-subfamily-b-member-8)