Gene

Gene details

Summary of gene annotations and link-out to annotation databases

Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.

BACE2 - beta-secretase 2

Function

Responsible for the proteolytic processing of the amyloid precursor protein (APP). Cleaves APP, between residues 690 and 691, leading to the generation and extracellular release of beta-cleaved soluble APP, and a corresponding cell-associated C-terminal fragment which is later released by gamma-secretase. It has also been shown that it can cleave APP between residues 671 and 672 (PubMed:10591213, PubMed:11083922, PubMed:11423558, PubMed:15857888, PubMed:16816112). Involved in the proteolytic shedding of PMEL at early stages of melanosome biogenesis. Cleaves PMEL within the M-beta fragment to release the amyloidogenic PMEL luminal fragment containing M-alpha and a small portion of M-beta N-terminus. This is a prerequisite step for subsequent processing and assembly of PMEL fibrils into amyloid sheets (PubMed:23754390). Responsible also for the proteolytic processing of CLTRN in pancreatic beta cells (PubMed:21907142).

Uniprot Browser
Entrez IDEnsEMBL IDPreferred NameUniprot ID
25825 ENSG00000182240 BACE2 Q9Y5Z0

Gene Regulons

List of regulons containing the gene.

A gene can be associated with multiple causal flows as a member of multiple regulons

RegulonProgram# genes# regulators# causal flows
R-1068Pr-0114
R-1100Pr-0118
R-114Pr-01112
R-1356Pr-0114
R-1676Pr-01113
R-1806Pr-1331121
R-209Pr-0116
R-2348Pr-0119
R-2358Pr-01111
R-2426Pr-1371192
R-2452Pr-0113
R-2509Pr-0119
R-258Pr-0119
R-2687Pr-01114
R-3103Pr-0119
R-3161Pr-01113
R-375Pr-0119
R-648Pr-0117
R-848Pr-0119