APP (amyloid beta precursor protein)

基因基本信息

基因基本信息

symbol:
APP
locus group:
protein-coding gene
location:
21q21.3
gene_family:
Endogenous ligands
alias symbol:
alpha-sAPP
alias name:
peptidase nexin-II
entrez id:
351
ensembl gene id:
ENSG00000142192
ucsc gene id:
uc002ylz.4
refseq accession:
NM_000484
hgnc_id:
HGNC:620
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

21q21.3
基因染色体位置图

基因简述

基因简述

APP（淀粉样前体蛋白）基因位于人类第21号染色体上，属于APP基因家族，该家族还包括APLP1和APLP2基因。APP基因家族成员编码的蛋白质在结构上具有相似性，均含有跨膜结构域和多个保守的功能区域，主要参与细胞黏附、突触形成和神经发育等过程。APP基因编码的淀粉样前体蛋白是一种跨膜蛋白，广泛表达于多种组织中，尤其在神经元中高表达。其生物学功能包括参与细胞间相互作用、轴突生长、突触可塑性以及金属离子（如铜和锌）的转运。APP通过蛋白酶解加工产生多种片段，其中β-分泌酶和γ-分泌酶依次切割产生的Aβ肽段（特别是Aβ42）是阿尔茨海默病（AD）中淀粉样斑块的主要成分。APP基因突变（如瑞典突变、伦敦突变等）会导致Aβ产生增加或Aβ42/Aβ40比例升高，促进淀粉样斑块形成，与家族性阿尔茨海默病密切相关。此外，APP基因的拷贝数增加（如唐氏综合征患者因21号染色体三体导致APP过表达）也会显著增加AD风险。APP过表达会促进Aβ沉积、引发神经炎症和氧化应激，导致神经元损伤和认知功能下降；而APP表达降低可能影响突触功能和神经发育，但具体机制尚不完全清楚。除AD外，APP还与脑淀粉样血管病、唐氏综合征相关痴呆等疾病有关。APP基因家族成员（APLP1/2）虽不产生Aβ，但能部分补偿APP的功能缺失，表明它们在神经发育和稳态维持中具有重叠作用。研究APP及其加工途径对理解神经退行性疾病的机制和开发靶向治疗策略具有重要意义。

None

无

OMIM数据库中对APP基因的介绍     Wikipedia数据库中对APP基因的介绍

基因序列

基因序列

APP基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

APP基因的碱基突变：           仅显示部分snp
rs1145       rs3991       rs4175       rs57126       rs128646       rs128647       rs128648       rs169963       rs170064       rs170065       rs170066       rs172592       rs177294       rs182470       rs182525       rs183361       rs184200      

基因表达

基因表达

APP基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AATTCCGACATGACTCAGGA
59
CACATCTTCTGCAAAGAACAC
58
AAATTCTTACACCAGGAGAGGA
59
CTCACTGCATGTCTCTTTGG
59
AAATTCTTACACCAGGAGAGGA
59
CTCACTGCATGTCTCTTTGG
59
GGATTCAGATCCATCAGGGA
59
TCAGGGTAGACTTCTTGGC
59
GGTCTACCCTGAACTGCAG
60
ACAAACTCACCAACTAAGCAG
59
CTGTTAAACTTCCTACAACAGC
58
GAAATGGGCATGTTCATTCTC
58
GATGTGACTGAAGGGAAGTG
58
TAAACTTTGGGACATGGCG
59
AATGTGGATTCTGCTGATGC
59
CTTTGTCTTCACTCCCATCTG
59
GGTTCGAGTTCCTACAACAG
58
GAAATGGGCATGTTCATTCTC
58
GGTTCGAGTTCCTACAACAG
58
GAAATGGGCATGTTCATTCTC
58

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
CTCF
APP
Activation
11706010; 9407128
CTCF
APP
Repression
11706010
ETS2
APP
Unknown
12890557
HDAC9
APP
Unknown
20145244
JUN
APP
Unknown
8015372
NFIL3
APP
Unknown
22947103
SP1
APP
Activation
15673661
SP1
APP
Unknown
8015372
STAT1
APP
Unknown
9841227
TBP
APP
Unknown
8015372

基因本体信息

APP基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

APP基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0007399
A0A0A0MRG2 (UniProtKB)
IEA
GO:0008201
A0A0A0MRG2 (UniProtKB)
IEA
GO:0016021
A0A0A0MRG2 (UniProtKB)
IEA
GO:0046914
A0A0A0MRG2 (UniProtKB)
IEA
GO:0004867
E9PG40 (UniProtKB)
IEA
GO:0005794
E9PG40 (UniProtKB)
IDA
GO:0007399
E9PG40 (UniProtKB)
IEA
GO:0008201
E9PG40 (UniProtKB)
IEA
GO:0010951
E9PG40 (UniProtKB)
IEA
GO:0016021
E9PG40 (UniProtKB)
IEA
GO:0043231
E9PG40 (UniProtKB)
IDA
GO:0046914
E9PG40 (UniProtKB)
IEA
GO:0004867
H7C0V9 (UniProtKB)
IEA
GO:0007399
H7C0V9 (UniProtKB)
IEA
GO:0008201
H7C0V9 (UniProtKB)
IEA
GO:0010951
H7C0V9 (UniProtKB)
IEA
GO:0016021
H7C0V9 (UniProtKB)
IEA
GO:0046914
H7C0V9 (UniProtKB)
IEA
GO:0007399
H7C2L2 (UniProtKB)
IEA
GO:0001878
P05067 (UniProtKB)
IEA
GO:0001878
P05067 (UniProtKB)
IMP
GO:0001878
P05067 (UniProtKB)
IMP
GO:0001967
P05067 (UniProtKB)
IEA
GO:0002576
P05067 (UniProtKB)
TAS
GO:0003677
P05067 (UniProtKB)
ISS
GO:0004867
P05067 (UniProtKB)
IDA
GO:0005102
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005515
P05067 (UniProtKB)
IPI
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005576
P05067 (UniProtKB)
TAS
GO:0005615
P05067 (UniProtKB)
IDA
GO:0005641
P05067 (UniProtKB)
IDA
GO:0005737
P05067 (UniProtKB)
ISS
GO:0005737
P05067 (UniProtKB)
IDA
GO:0005768
P05067 (UniProtKB)
IDA
GO:0005790
P05067 (UniProtKB)
IEA
GO:0005791
P05067 (UniProtKB)
IEA
GO:0005794
P05067 (UniProtKB)
ISS
GO:0005794
P05067 (UniProtKB)
IDA
GO:0005794
P05067 (UniProtKB)
IDA
GO:0005829
P05067 (UniProtKB)
TAS
GO:0005829
P05067 (UniProtKB)
TAS
GO:0005829
P05067 (UniProtKB)
TAS
GO:0005829
P05067 (UniProtKB)
TAS
GO:0005886
P05067 (UniProtKB)
IDA
GO:0005886
P05067 (UniProtKB)
IDA
GO:0005887
P05067 (UniProtKB)
TAS
GO:0005905
P05067 (UniProtKB)
IEA
GO:0005911
P05067 (UniProtKB)
IEA
GO:0006378
P05067 (UniProtKB)
ISS
GO:0006417
P05067 (UniProtKB)
ISS
GO:0006468
P05067 (UniProtKB)
ISS
GO:0006878
P05067 (UniProtKB)
ISS
GO:0006897
P05067 (UniProtKB)
ISS
GO:0006979
P05067 (UniProtKB)
IEA
GO:0007155
P05067 (UniProtKB)
IEA
GO:0007176
P05067 (UniProtKB)
ISS
GO:0007219
P05067 (UniProtKB)
IEA
GO:0007409
P05067 (UniProtKB)
ISS
GO:0007617
P05067 (UniProtKB)
ISS
GO:0007626
P05067 (UniProtKB)
ISS
GO:0008088
P05067 (UniProtKB)
ISS
GO:0008201
P05067 (UniProtKB)
IEA
GO:0008203
P05067 (UniProtKB)
IEA
GO:0008344
P05067 (UniProtKB)
ISS
GO:0008542
P05067 (UniProtKB)
ISS
GO:0009986
P05067 (UniProtKB)
IDA
GO:0009986
P05067 (UniProtKB)
IDA
GO:0009987
P05067 (UniProtKB)
IMP
GO:0010288
P05067 (UniProtKB)
IEA
GO:0010951
P05067 (UniProtKB)
IEA
GO:0010952
P05067 (UniProtKB)
IEA
GO:0010971
P05067 (UniProtKB)
IEA
GO:0016021
P05067 (UniProtKB)
ISS
GO:0016199
P05067 (UniProtKB)
ISS
GO:0016322
P05067 (UniProtKB)
ISS
GO:0016358
P05067 (UniProtKB)
ISS
GO:0016504
P05067 (UniProtKB)
IEA
GO:0019731
P05067 (UniProtKB)
IEA
GO:0019731
P05067 (UniProtKB)
IDA
GO:0019731
P05067 (UniProtKB)
IDA
GO:0019732
P05067 (UniProtKB)
IEA
GO:0019732
P05067 (UniProtKB)
IMP
GO:0019732
P05067 (UniProtKB)
IMP
GO:0019899
P05067 (UniProtKB)
IPI
GO:0030134
P05067 (UniProtKB)
IEA
GO:0030198
P05067 (UniProtKB)
ISS
GO:0030198
P05067 (UniProtKB)
TAS
GO:0030424
P05067 (UniProtKB)
ISS
GO:0030900
P05067 (UniProtKB)
IEA
GO:0031093
P05067 (UniProtKB)
TAS
GO:0031175
P05067 (UniProtKB)
ISS
GO:0031594
P05067 (UniProtKB)
IEA
GO:0031904
P05067 (UniProtKB)
TAS
GO:0031904
P05067 (UniProtKB)
TAS
GO:0031904
P05067 (UniProtKB)
TAS
GO:0032588
P05067 (UniProtKB)
TAS
GO:0032588
P05067 (UniProtKB)
TAS
GO:0033130
P05067 (UniProtKB)
IPI
GO:0035235
P05067 (UniProtKB)
ISS
GO:0035253
P05067 (UniProtKB)
IEA
GO:0040014
P05067 (UniProtKB)
ISS
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0042802
P05067 (UniProtKB)
IPI
GO:0043195
P05067 (UniProtKB)
IEA
GO:0043197
P05067 (UniProtKB)
IDA
GO:0043198
P05067 (UniProtKB)
IDA
GO:0043231
P05067 (UniProtKB)
IDA
GO:0043235
P05067 (UniProtKB)
IDA
GO:0043393
P05067 (UniProtKB)
IEA
GO:0044267
P05067 (UniProtKB)
TAS
GO:0044304
P05067 (UniProtKB)
IEA
GO:0045087
P05067 (UniProtKB)
IMP
GO:0045087
P05067 (UniProtKB)
IMP
GO:0045087
P05067 (UniProtKB)
TAS
GO:0045121
P05067 (UniProtKB)
IDA
GO:0045177
P05067 (UniProtKB)
IEA
GO:0045202
P05067 (UniProtKB)
IDA
GO:0045665
P05067 (UniProtKB)
IEA
GO:0045931
P05067 (UniProtKB)
ISS
GO:0045944
P05067 (UniProtKB)
IEA
GO:0046914
P05067 (UniProtKB)
IEA
GO:0048471
P05067 (UniProtKB)
IDA
GO:0048669
P05067 (UniProtKB)
ISS
GO:0050803
P05067 (UniProtKB)
ISS
GO:0050829
P05067 (UniProtKB)
IEA
GO:0050829
P05067 (UniProtKB)
IDA
GO:0050829
P05067 (UniProtKB)
IDA
GO:0050830
P05067 (UniProtKB)
IEA
GO:0050830
P05067 (UniProtKB)
IDA
GO:0050830
P05067 (UniProtKB)
IDA
GO:0050885
P05067 (UniProtKB)
IEA
GO:0051124
P05067 (UniProtKB)
IEA
GO:0051233
P05067 (UniProtKB)
IEA
GO:0051402
P05067 (UniProtKB)
IMP
GO:0051425
P05067 (UniProtKB)
IPI
GO:0051563
P05067 (UniProtKB)
IEA
GO:0070062
P05067 (UniProtKB)
IDA
GO:0070062
P05067 (UniProtKB)
IDA
GO:0070851
P05067 (UniProtKB)
IEA
GO:0071320
P05067 (UniProtKB)
IEA
GO:0071874
P05067 (UniProtKB)
IEA
GO:0097449
P05067 (UniProtKB)
IEA
GO:1990000
P05067 (UniProtKB)
IMP
GO:1990090
P05067 (UniProtKB)
IEA
GO:1990761
P05067 (UniProtKB)
IEA
GO:1990812
P05067 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 APP基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Alzheimer's Disease 0.600803935 269 6 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_UNIPROT
CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED 0.48 4 4 CLINVAR_CTD_human_ORPHANET_UNIPROT
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type 0.24 2 0 CTD_human_ORPHANET
Dementia 0.150676439 33 2 BeFree_CTD_human_GAD_LHGDN
Down Syndrome 0.146866321 27 0 BeFree_CTD_human_GAD_LHGDN
Cerebral Amyloid Angiopathy 0.142870638 20 1 BeFree_CTD_human_LHGDN
Plaque, Amyloid 0.141172466 79 2 BeFree_CTD_human
Amyloidosis 0.134416214 27 0 BeFree_CTD_human_LHGDN
Neurodegenerative Disorders 0.121628651 8 0 BeFree_CTD_human
Anxiety Disorders 0.121357209 5 1 BeFree_CTD_human

基因相关服务

基因相关服务

联系方式

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