ABCA7 (ATP binding cassette subfamily A member 7)

2016-10-01  

Identity

HGNC
LOCATION
19p13.3
LOCUSID
ALIAS
ABCA-SSN,ABCX,AD9
FUSION GENES

Other Information

Locus ID:

NCBI: 10347
MIM: 605414
HGNC: 37
Ensembl: ENSG00000064687

Variants:

dbSNP: 10347
ClinVar: 10347
TCGA: ENSG00000064687
COSMIC: ABCA7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000064687ENST00000263094Q8IZY2
ENSG00000064687ENST00000435683Q8IZY2
ENSG00000064687ENST00000524850E9PL63
ENSG00000064687ENST00000525073H0YCN5
ENSG00000064687ENST00000529442A0A087WX86
ENSG00000064687ENST00000530092H0YF58
ENSG00000064687ENST00000531467E9PKG5
ENSG00000064687ENST00000612569A0A087WZX6

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

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
381357572024ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism.5
381357572024ABCA7 deficiency causes neuronal dysregulation by altering mitochondrial lipid metabolism.5
364843662023Cryo-EM structures of human ABCA7 provide insights into its phospholipid translocation mechanisms.5
372121112023High-Quality Sleep Mitigates ABCA7-Related Generalization Deficits in Healthy Older African Americans.0
372965822023Aberrant DNA Methylation, Expression, and Occurrence of Transcript Variants of the ABC Transporter ABCA7 in Breast Cancer.3
373222882023ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer's Disease.2
376818762023Down-Regulation of ABCA7 in Human Microglia, Astrocyte and THP-1 Cell Lines by Cholesterol Depletion, IL-1β and TNFα, or PMA.1
379462682023CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response.1
364843662023Cryo-EM structures of human ABCA7 provide insights into its phospholipid translocation mechanisms.5
372121112023High-Quality Sleep Mitigates ABCA7-Related Generalization Deficits in Healthy Older African Americans.0
372965822023Aberrant DNA Methylation, Expression, and Occurrence of Transcript Variants of the ABC Transporter ABCA7 in Breast Cancer.3
373222882023ABCA7-Associated Clinical Features and Molecular Mechanisms in Alzheimer's Disease.2
376818762023Down-Regulation of ABCA7 in Human Microglia, Astrocyte and THP-1 Cell Lines by Cholesterol Depletion, IL-1β and TNFα, or PMA.1
379462682023CSF biomarker analysis of ABCA7 mutation carriers suggests altered APP processing and reduced inflammatory response.1
349580202022Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.4

Citation

Dessen P

ABCA7 (ATP binding cassette subfamily A member 7)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56424/css/js/teaching-explorer/