BACE2 - beta-secretase 2 Gene

Homo sapiens

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

Gene ID: 25825 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (1)

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

Pre-clinical Phase

Bioactive Molecules (3)

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

Name
Email *

	Sorry, but the email address you supplied was invalid.