BACE2 - beta-secretase 2 Gene

Also Known as ASP1; BAE2; DRAP; AEPLC; ALP56; ASP21; CDA13; CEAP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25825

About BACE2

Cytogenetic location: 21q22.2-q22.3 Genomic coordinates (GRCh38): 21:41,168,160-41,282,530 (from NCBI)

This gene has 10 transcripts (splice variants), 215 orthologues and 9 paralogues. Ubiquitous expression in stomach (RPKM 12.5), gall bladder (RPKM 11.8) and 23 other tissues.

Summary

This gene encodes an integral membrane glycoprotein that functions as an aspartic protease. The encoded protein cleaves amyloid precursor protein into amyloid beta peptide, which is a critical step in the etiology of Alzheimer's disease and Down syndrome. The protein precursor is further processed into an active mature peptide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

BACE2 Products (4)

mRNA	Protein	Name
NM_012105.5	NP_036237.2	beta-secretase 2 isoform A preproprotein
XM_017028314.2	XP_016883803.1	beta-secretase 2 isoform X1
NM_138992.3	NP_620477.1	beta-secretase 2 isoform B preproprotein
NM_138991.3	NP_620476.1	beta-secretase 2 isoform C preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables aspartic-type endopeptidase activity	IDA IDA: Inferred from direct assay	10591213	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26840340	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in glucose homeostasis	IMP IMP: Inferred from mutant phenotype	21907142	GOA
involved in melanosome organization	IMP IMP: Inferred from mutant phenotype	23754390	GOA
involved in membrane protein ectodomain proteolysis	IDA IDA: Inferred from direct assay	10591213	GOA
involved in membrane protein ectodomain proteolysis	IMP IMP: Inferred from mutant phenotype	21907142	GOA
involved in negative regulation of amyloid precursor protein biosynthetic process	IMP IMP: Inferred from mutant phenotype	12801932	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	23754390	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	11423558	GOA
located in melanosome membrane	IDA IDA: Inferred from direct assay	23754390	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	21907142	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BACE2 Protein Structure

Asp

0
100
200
300
400
518 a.a.

Protein Preferred Names	Protein Names
beta-secretase 2	56 kDa aspartic-like protease Down syndrome region aspartic protease SLCO3A1/BACE2 fusion aspartyl protease 1 beta-site APP-cleaving enzyme 2 beta-site amyloid beta A4 precursor protein-cleaving enzyme 2 memapsin-1 membrane-associated aspartic protease 1 theta-secretase transmembrane aspartic proteinase Asp1

BACE2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	BACE2	Q9Y5Z0	IAPP	Homo sapiens	P10997	Aggregation	26840340
Intra	BACE2	Q9Y5Z0	IAPP	Homo sapiens	P10997	Protease Assay	26840340

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Anemia, Congenital Dyserythropoietic, Type Ib	CDAN1B Congenital Dyserythropoietic Anemia Type Ib Cda, Type Ib Congenital Dyserythropoietic Anemia Type Type 1b Dyserythropoietic Anemia, Congenital, Type Ib Anemia, Congenital Dyserythropoietic, 1b Cda Ib Anemia, Dyserythropoietic, Congenital Anemia, Dyserythropoietic, Congenital, Type Ib
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Myositis	Idiopathic Inflammatory Myopathy Idiopathic Inflammatory Myositis Iim Imm Idiopathic Inflammatory Myopathies Myopathy, Familial Idiopathic Inflammatory Inflammatory Disorder Of Muscle Idiopathic Inflammatory Myopathy, Familial Inflammatory Myopathy, Idiopathic Myopathies Idiopathic Inflammatory Familial Idiopathic Inflammatory Myopathy
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Congenital Megacolon Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against Hirschsprung'S Disease Congenital Intestinal Aganglionosis HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Down Syndrome	Trisomy 21 Complete Trisomy 21 Syndrome Down'S Syndrome Trisomy 21 Syndrome Down'S Syndrome - Trisomy 21 Downs Syndrome G Trisomy 47,Xx,+21 47,Xy,+21 Trisomy G Down Syndrome, Susceptibility To Chromosome 21 Trisomy Trisomy 21 Nos Abnormal Autosomes 21
Chromosomal Duplication Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-16759	Verubecestat	Inhibitor	99.56%	Phase 3

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-136742	BACE2-IN-1	Inhibitor	99.4%	Unkown
HY-124322	NB-360	Inhibitor	99.08%	Unkown
HY-12938	AMG-8718	Inhibitor	/	Unkown
HY-161359	BACE1-IN-14	Inhibitor	/	Unkown
HY-147758	BACE1/2-IN-1	Inhibitor	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	BACE2	VGNC	VGNC:26401
Rattus norvegicus	BACE2	RGD	RGD:1303241
Macaca mulatta	BACE2	VGNC	VGNC:70216
Felis catus	BACE2	VGNC	VGNC:69029
Canis familiaris	BACE2	VGNC	VGNC:38359
Mus musculus	BACE2	MGD	MGI:1860440
Others	BACE2	NCBI