Bace2 beta-site APP-cleaving enzyme 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bace2provided by MGI
Official Full Name: beta-site APP-cleaving enzyme 2provided by MGI
Primary source: MGI:MGI:1860440
See related: Ensembl:ENSMUSG00000040605 AllianceGenome:MGI:1860440
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ARP1; ASP1; BAE2; DRAP; AEPLC; ALP56; ASP21; CDA13; CEAP1; 1110059C24Rik
Summary: This gene encodes a member of the peptidase A1 family of aspartic proteases. The encoded preproprotein undergoes proteolytic processing to generate an active endopeptidase enzyme. This transmembrane protease catalyzes the proteolysis of amyloid precursor protein to produce amyloid beta peptide. Mice lacking the encoded product exhibit increased pancreatic beta cell mass and improved glucose tolerance due to increased insulin secretion. [provided by RefSeq, Jul 2016]
Expression: Biased expression in stomach adult (RPKM 52.5), colon adult (RPKM 18.7) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 16 C4; 16 57.4 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	16	NC_000082.7 (97157928..97244136)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	16	NC_000082.6 (97356728..97442936)

Chromosome 16 - NC_000082.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BACE2 suppression in mice aggravates the adverse metabolic consequences of an obesogenic diet.
Title: BACE2 suppression in mice aggravates the adverse metabolic consequences of an obesogenic diet.
The absence of BACE2 ameliorates glucose tolerance defects induced by IAPP overexpression in the beta-cell and promotes beta-cell survival.
Title: BACE2 suppression promotes β-cell survival and function in a model of type 2 diabetes induced by human islet amyloid polypeptide overexpression.
the BACE1 homologue BACE2 processes PMEL to generate functional amyloids. BACE2 is highly expressed in pigment cells and Bace2(-/-) but not Bace1(-/-) mice display coat color defects, implying a specific role for BACE2 during melanogenesis
Title: BACE2 processes PMEL to form the melanosome amyloid matrix in pigment cells.
non-redundant roles of BACE1/2 in ectodomain shedding with BACE1 regulating a broader and BACE2 a more distinct set of beta-cell-enriched substrates including two proteins of the seizure 6 protein family (SEZ6L and SEZ6L2).
Title: Systematic proteomic analysis identifies β-site amyloid precursor protein cleaving enzyme 2 and 1 (BACE2 and BACE1) substrates in pancreatic β-cells.
Tmem27 dimerization is a dynamic process involving Bace2
Title: Tmem27 dimerization, deglycosylation, plasma membrane depletion, and the extracellular Phe-Phe motif are negative regulators of cleavage by Bace2.
Bace2 is a beta cell-enriched protease that regulates pancreatic beta cell function and mass.
Title: Bace2 is a β cell-enriched protease that regulates pancreatic β cell function and mass.
The TgBACE2-APP mice showed deregulation of BACE2 expression levels that were significantly increased with respect to single TgBACE2 mice.
Title: In vivo effects of APP are not exacerbated by BACE2 co-overexpression: behavioural characterization of a double transgenic mouse model.
The presence of BACE2 in secretory granules of beta cells suggests that it may play a role in diabetes-associated amyloidogenesis.
Title: BACE2 is stored in secretory granules of mouse and rat pancreatic beta cells.
Data show that BACE1 knockout mice display a complex phenotype, and a combined deficiency of BACE2 and BACE1 enhanced the bace1-/- lethality.
Title: Phenotypic and biochemical analyses of BACE1- and BACE2-deficient mice.
BACE1 and BACE2 may act as alternative alpha-secretase-like proteases in proteolytic processing of IL-1R2 and APP
Title: Regulated intramembrane proteolysis of the interleukin-1 receptor II by alpha-, beta-, and gamma-secretase.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Endonuclease-mediated (5)

General gene information

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Markers

42.MMHAP31FLF6.seq (e-PCR)
- UniSTS:160605

D16Mit205 (e-PCR), detects polymorphism
- UniSTS:127842

AI850424 (e-PCR)
- UniSTS:166023

G67855 (e-PCR)
- UniSTS:228503

NoName (e-PCR)
- UniSTS:225204

Bace2 (e-PCR), detects polymorphism
- UniSTS:259043

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables aspartic-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables peptidase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables peptidase activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid-beta metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in melanosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome organization	ISO Inferred from Sequence Orthology more info
involved_in membrane protein ectodomain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane protein ectodomain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of amyloid precursor protein biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in protein processing	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in signaling receptor ligand precursor processing	IGI Inferred from Genetic Interaction more info	PubMed
involved_in signaling receptor ligand precursor processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in dense core granule	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
is_active_in endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in melanosome membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: beta-secretase 2

Names: aspartyl protease 1; beta-site amyloid precursor protein cleaving enzyme 2; memapsin-1; membrane-associated aspartic protease 1; theta-secretase

NP_062390.3

EC 3.4.23.45

XP_006523131.1

EC 3.4.23.45

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_019517.5 → NP_062390.3 beta-secretase 2 preproprotein

See identical proteins and their annotated locations for NP_062390.3

Status: REVIEWED

Source sequence(s)

AC164088, AK034059, AK078770, AK165036, BB857972, BP765266

Consensus CDS

CCDS28359.1

UniProtKB/Swiss-Prot

Q3TNS7, Q8C5E9, Q8C793, Q9JL18, Q9R1P7

UniProtKB/TrEMBL

A0A0R4J0I8

Related

ENSMUSP00000043918.7, ENSMUST00000047275.8

Conserved Domains (2) summary

cd05473
Location:85 → 446

beta_secretase_like; Beta-secretase, aspartic-acid protease important in the pathogenesis of Alzheimer's disease

pfam00026
Location:88 → 425

Asp; Eukaryotic aspartyl protease

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000082.7 Reference GRCm39 C57BL/6J

Range

97157928..97244136

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006523068.4 → XP_006523131.1 beta-secretase 2 isoform X1

Conserved Domains (1) summary

cl11403
Location:1 → 221

pepsin_retropepsin_like; Cellular and retroviral pepsin-like aspartate proteases