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FLASH GENE

Symbol

BACE2

contributors: mct - updated : 07-12-2016

HGNC name	beta-site APP-cleaving enzyme 2
HGNC id	934

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	21q22.2      Physical location : 42.539.727 - 42.648.523
Synonym name	memapsin 1 aspartate-like protein
	Down syndrome region aspartic protease
	aspartyl protease 1
	beta-site amyloid beta A4 precursor protein-cleaving enzyme 2
Synonym symbol(s)	ASP1, BAE2, DRAP, AEPLC, ALP56, ASP21, CDA13, CEAP1
EC.number	3.4.23.45

DNA

TYPE	functioning gene
STRUCTURE	108.80 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
text structure	controlled by a TATA-less promoter

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_012105 9 - 2993 NP_036237 56.2 518 - Solans NM_138992 8 - 2824 NP_620477 43 396 - Solans unique C terminus NM_138991 8 - 2843 NP_620476 50.5 468 - Solans lacking an internal segment

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Digestive intestine large intestine colon   moderately Endocrine pancreas         Homo sapiens Nervous brain         Homo sapiens Reproductive female system uterus cervix   highly Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone     highly

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta, umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	20 residues signal peptide
	two putative N-glycosylation sites

HOMOLOGY

interspecies	homolog to rattus Bace2 (89.69 pc)
	homolog to murine Bace2 (89.49 pc)

intraspecies

homolog to BACE1

Homologene

FAMILY

peptidase A1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
	intracellular,cytoplasm,organelle,endosome
text	type I integral membrane glycoprotein

basic FUNCTION	involved in the cleavage of the precursor of amyloid beta protein principal component of senile plaques in Alzheimer disease
	APP theta-secretase, not responsible for the pathogenesis of Alzheimer disease in Down syndrome
	may play a role in diabetes-associated amyloidogenesis
	important enzyme in beta-cell function
	implicated in astrocytes beta-secretase activity
	implicated in the control of beta cell maintenance, providing a rational strategy to inhibit this protease for the expansion of functional pancreatic beta cell mass (PMID;

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	RTN3
	RTN4
	TMEM27 is a substrate of BACE2 (structural properties of TMEM27 that affect the susceptibility to BACE2 having implications for the efficiency with which TMEM27 and other BACE2 substrates are cleaved in normal and disease states)
	is an APP-degrading protease
	BACE2 cleaves the integral membrane form of PMEL within the juxtamembrane domain, releasing the PMEL luminal domain into endosomal precursors for the formation of amyloid fibrils and downstream melanosome morphogenesis
	RCAN1 inhibits BACE2 turnover by attenuating proteasome-mediated BACE2 degradation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in Down syndrome constitutional     --over   in patients with preclinical to late-stage AD, and also elevated in frontotemporal dementia

Susceptibility

to Alzheimer disease (AD)

Variant & Polymorphism SNP	haplotype (H5) was found to associate with AD, but haplotype (H7) showed a weaker association with protection against AD

Candidate gene	particulary strong therapeutic candidate for the treatment or prevention of AD
Marker
Therapy target
	System Type Disorder Pubmed neurology neurodegenerative alzheimer therapeutic interventions that potentiate BACE2 may prevent AD pathogenesis

ANIMAL & CELL MODELS