ABCA7 (ATP binding cassette subfamily A member 7)

2016-10-01  

Identity

HGNC
ABCA7
LOCATION
19p13.3
LOCUSID
10347
ALIAS
ABCA-SSN,ABCX,AD9
FUSION GENES
Show Gene Fusions

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
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/haematological-explorer/js/lib/meetings/