BACE2 (beta-secretase 2)

2007-02-01  

Identity

HGNC
LOCATION
21q22.2
LOCUSID
ALIAS
AEPLC,ALP56,ASP1,ASP21,BAE2,CDA13,CEAP1,DRAP
FUSION GENES

Other Information

Locus ID:

NCBI: 25825
MIM: 605668
HGNC: 934
Ensembl: ENSG00000182240

Variants:

dbSNP: 25825
ClinVar: 25825
TCGA: ENSG00000182240
COSMIC: BACE2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000182240ENST00000328735Q9Y5Z0
ENSG00000182240ENST00000330333Q9Y5Z0
ENSG00000182240ENST00000347667Q9Y5Z0

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Alzheimer's diseaseKEGGko05010
Alzheimer's diseaseKEGGhsa05010

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
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
173077382007Regulated intramembrane proteolysis of the interleukin-1 receptor II by alpha-, beta-, and gamma-secretase.51
168161122006BACE2, as a novel APP theta-secretase, is not responsible for the pathogenesis of Alzheimer's disease in Down syndrome.48
237543902013BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells.45
117419102002Substrate and inhibitor profile of BACE (beta-secretase) and comparison with other mammalian aspartic proteases.43
158578882005Distinct transcriptional regulation and function of the human BACE2 and BACE1 genes.39
239033562013Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.39
199687622010BACE1 and BACE2 enzymatic activities in Alzheimer's disease.38
181631812008Protein expression of BACE1, BACE2 and APP in Down syndrome brains.31

Citation

Dessen P

BACE2 (beta-secretase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45519/bace2