BACE2 - beta-secretase 2 Gene

中文名称：β-分泌酶 2

种属: Homo sapiens

同用名: ASP1; BAE2; DRAP; AEPLC; ALP56; ASP21; CDA13; CEAP1

基因 ID: 25825 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种完整的膜糖蛋白，它起着天冬氨酸蛋白酶的作用。编码的蛋白质将淀粉样蛋白前体蛋白切割成淀粉样蛋白 β 肽，这是阿尔茨海默病和唐氏综合症病因学中的关键步骤。蛋白质前体进一步加工成活性成熟肽。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables aspartic-type endopeptidase activity	IDA IDA: 通过直接分析推断	10591213	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	26840340	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in glucose homeostasis	IMP IMP: 通过突变表型推断	21907142	GOA
involved in melanosome organization	IMP IMP: 通过突变表型推断	23754390	GOA
involved in membrane protein ectodomain proteolysis	IDA IDA: 通过直接分析推断	10591213	GOA
involved in membrane protein ectodomain proteolysis	IMP IMP: 通过突变表型推断	21907142	GOA
involved in negative regulation of amyloid precursor protein biosynthetic process	IMP IMP: 通过突变表型推断	12801932	GOA
involved in protein processing	IDA IDA: 通过直接分析推断	23754390	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in Golgi apparatus	IDA IDA: 通过直接分析推断	11423558	GOA
located in melanosome membrane	IDA IDA: 通过直接分析推断	23754390	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	21907142	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

BACE2 蛋白结构

Asp

0
100
200
300
400
518 a.a.

蛋白主名

其他名称

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

关联疾病

疾病名称

别名

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

疾病名称	别名
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

目录号	产品名	作用方式	纯度	Phase
HY-16759	Verubecestat	Inhibitor	99.56%	Phase 3

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-136742	BACE2-IN-1	Inhibitor	99.4%	否
HY-12938	AMG-8718	Inhibitor	/	否
HY-161359	BACE1-IN-14	Inhibitor	/	否

直系同源

种属	基因名	来源	基因 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

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

BACE2 - beta-secretase 2 Gene

关于 BACE2

功能概要

BACE2 基因产物(4)

BACE2 蛋白结构

关联疾病

直系同源

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BACE2 - beta-secretase 2 Gene

关于 BACE2

功能概要

BACE2 基因产物(4)

BACE2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z