Hs05545893_cn

• Gene Symbol: BACE2
• Assay Reference Genome Location: Chr.21:41169060 on build GRCh38
• Cytoband: 21q22.2

Target Gene Details

• Entrez Gene ID: 25825
• Gene Name: beta-site APP-cleaving enzyme 2
• Gene Aliases: AEPLC, ALP56, ASP1, ASP21, BAE2, CDA13, CEAP1, DRAP
• Location: Chr.21:41167801-41282534 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
BACE2	NM_012105.4			NP_036237.2
	NM_138991.2			NP_620476.1
	NM_138992.2			NP_620477.1
	AF050171.1			AAD45963.1
	AF117892.1			AAD45240.1
	AF178532.1			AAF29494.1
	AF188276.1			AAF35835.1
	AF188277.1			AAF35836.1
	AF200192.1			AAF13714.1
	AF200342.1			AAF17078.1
	AF204944.1			AAF26368.1
	AF212252.1			AAG41783.1
	AK075539.1			BAC11682.1
	AK292056.1
	AY358927.1			AAQ89286.1
	BC014453.1			AAH14453.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1144002	Chr.21:41167073 - 41169173 on Build GRCh38	Deletion	BACE2 MIR3197
nsv1072179	Chr.21:41167772 - 41169173 on Build GRCh38	Deletion	BACE2
nsv587492	Chr.21:41137896 - 41175967 on Build GRCh38	Loss	LINC00323 BACE2 PLAC4 MIR3197

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

protease

Gene Ontology Categories:

Process(es)

proteolysis
membrane protein ectodomain proteolysis
peptide hormone processing
protein catabolic process
negative regulation of amyloid precursor protein biosynthetic process
beta-amyloid metabolic process

Function(s)

beta-amyloid binding
aspartic-type endopeptidase activity