ABCA6 (ATP binding cassette subfamily A member 6)

2015-08-01  

Identity

HGNC
ABCA6
LOCATION
17q24.2
LOCUSID
23460
ALIAS
EST155051
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23460
MIM: 612504
HGNC: 36
Ensembl: ENSG00000154262

Variants:

dbSNP: 23460
ClinVar: 23460
TCGA: ENSG00000154262
COSMIC: ABCA6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154262ENST00000284425Q8N139
ENSG00000154262ENST00000590645Q8N139

Expression (GTEx)

0
10
20
30
40
50
60
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

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

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
186766802008Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.32
196921682010Genetic susceptibility to distinct bladder cancer subphenotypes.25
196251762009PTEN identified as important risk factor of chronic obstructive pulmonary disease.12
257514002015Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.11
191701962009Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.5
240288212013FoxO regulates expression of ABCA6, an intracellular ATP-binding-cassette transporter responsive to cholesterol.4
252941552014A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival.4
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

ABCA6 (ATP binding cassette subfamily A member 6)

Atlas Genet Cytogenet Oncol Haematol. 2015-08-01

Online version: http://atlasgeneticsoncology.org/gene/55313/abca6-(atp-binding-cassette-subfamily-a-member-6)