ATP2A2 (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2)

基因基本信息

基因基本信息

symbol:
ATP2A2
locus group:
protein-coding gene
location:
12q24.11
gene_family:
P-type ATPases
alias symbol:
SERCA2
alias name:
sarcoplasmic/endoplasmic reticulum…
entrez id:
488
ensembl gene id:
ENSG00000174437
ucsc gene id:
uc001tqk.5
refseq accession:
NM_001681
hgnc_id:
HGNC:812
approved reserved:
1990-09-10

基因染色体位置

基因染色体位置

12q24.11
基因染色体位置图

基因简述

基因简述

ATP2A2基因编码肌浆/内质网钙ATP酶2（SERCA2），这是一种钙离子转运蛋白，主要位于肌浆网和内质网膜上，负责将细胞质中的钙离子主动转运回肌浆网或内质网中，从而维持细胞内钙离子浓度的稳态。SERCA2在肌肉收缩和舒张过程中起关键作用，特别是在心肌和平滑肌中，通过调节钙离子的回收来控制肌肉的收缩和松弛。ATP2A2属于P型ATP酶家族，这个家族的共性是通过水解ATP来主动转运离子或分子，形成磷酸化中间体。SERCA2有三种亚型（SERCA1、SERCA2、SERCA3），其中SERCA2在心脏、平滑肌和非肌肉组织中广泛表达。ATP2A2基因突变会导致Darier病（毛囊角化病），这是一种常染色体显性遗传性皮肤病，表现为皮肤角化异常和脆性增加，因为突变影响了钙离子信号传导和细胞粘附功能。此外，SERCA2功能异常还与心力衰竭、心律失常和糖尿病等疾病相关，因为钙离子稳态的破坏会影响心肌收缩力和胰岛素分泌。如果ATP2A2过表达，可能会增强钙离子的回收效率，改善心肌收缩功能，但过度表达可能导致钙超载，引发细胞凋亡或心律失常。相反，如果ATP2A2表达降低，钙离子回收能力减弱，会导致细胞内钙离子浓度升高，影响肌肉松弛，可能诱发心力衰竭或肌无力。SERCA2的功能还与其他基因如磷蛋白（phospholamban）相互作用，后者抑制SERCA2的活性，调节钙离子的回收速率。因此，ATP2A2在维持细胞钙平衡和多种生理功能中具有核心作用，其异常表达或突变会严重影响肌肉功能和细胞稳态。

This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]

该基因编码的SERCA钙中的一个（2 +） - ATP酶，它是设在肌肉细胞的肌或内质网的细胞内的泵。这种酶催化ATP加上钙从细胞溶胶易位到肌质网腔的水解，并参与收缩/舒张周期的调节。在该基因引起达里耶白病的突变，也称为毛囊角化症，常染色体显性遗传的皮肤疾病的特点是表皮细胞和角化异常之间的粘合损失。在多个转录剪接变异体导致编码不同亚型。 [由RefSeq的，2008年10月提供]

OMIM数据库中对ATP2A2基因的介绍     Wikipedia数据库中对ATP2A2基因的介绍

基因序列

基因序列

ATP2A2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

ATP2A2基因的碱基突变：           仅显示部分snp
rs3415       rs9540       rs12638       rs767266       rs929518       rs929519       rs1042653       rs1803737       rs1860561       rs2098140       rs2302372       rs2339511       rs3024237       rs3026433       rs3026434       rs3026436       rs3026437      

基因表达

基因表达

ATP2A2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
GGACAGAAAGAGTGTGCAG
59
AGAGACAGATTCACCAGCA
58
TGGTTGTACTTCTGTTATCTGC
59
AGAATGAACATCCTGCAGAC
58
TATGGCAGGAAAGAAATGCTG
59
CCTGTCGATACACTTTGCC
59
CTATTGGCTGTTACGTCGG
58
GAAGGACACTCTTGGACCA
59
CCTTGCCACTCATCTTCCA
60
TCTCATCCATGAGAATCACGG
60
ATCTTCCAGATCACACCGC
60
TGAGCTAAGAACAGGTTCCAG
60
ACTATTAAGCTGTACTGCCTCTC
60
TCAGCATTTCTTTCCTTTAGCC
59
ATTACAATGAGGCAAAGGGTG
59
TCATCTTCTCTACTAGGCAAGTG
60
TCAATTCTCACAGGTGAATCTG
59
TTTATCTTGGTTGACAGCTCG
59
TGGATTACAATGAGGCAAAGG
59
TCTTCTCTACTAGGCAAGTGAG
59

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）
ATF6
ATP2A2
Unknown
11595740
HAX1
ATP2A2
Repression
18971376
PPARG
ATP2A2
Unknown
22240811
SP1
ATP2A2
Activation
17597815
SP1
ATP2A2
Unknown
14613864
SP3
ATP2A2
Unknown
14613864

基因本体信息

ATP2A2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

ATP2A2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005388
A0A0C4DH86 (UniProtKB)
IEA
GO:0005524
A0A0C4DH86 (UniProtKB)
IEA
GO:0016021
A0A0C4DH86 (UniProtKB)
IEA
GO:0033017
A0A0C4DH86 (UniProtKB)
IEA
GO:0070588
A0A0C4DH86 (UniProtKB)
IEA
GO:0005388
H7C5W9 (UniProtKB)
IEA
GO:0005524
H7C5W9 (UniProtKB)
IEA
GO:0016021
H7C5W9 (UniProtKB)
IEA
GO:0033017
H7C5W9 (UniProtKB)
IEA
GO:0046872
H7C5W9 (UniProtKB)
IEA
GO:0070588
H7C5W9 (UniProtKB)
IEA
GO:0005388
J3QSY6 (UniProtKB)
IEA
GO:0005524
J3QSY6 (UniProtKB)
IEA
GO:0016021
J3QSY6 (UniProtKB)
IEA
GO:0033017
J3QSY6 (UniProtKB)
IEA
GO:0070588
J3QSY6 (UniProtKB)
IEA
GO:0002026
P16615 (UniProtKB)
IEA
GO:0005388
P16615 (UniProtKB)
IDA
GO:0005388
P16615 (UniProtKB)
IDA
GO:0005388
P16615 (UniProtKB)
IDA
GO:0005388
P16615 (UniProtKB)
IDA
GO:0005388
P16615 (UniProtKB)
TAS
GO:0005388
P16615 (UniProtKB)
TAS
GO:0005509
P16615 (UniProtKB)
IDA
GO:0005509
P16615 (UniProtKB)
IDA
GO:0005509
P16615 (UniProtKB)
IDA
GO:0005509
P16615 (UniProtKB)
IDA
GO:0005515
P16615 (UniProtKB)
IPI
GO:0005515
P16615 (UniProtKB)
IPI
GO:0005515
P16615 (UniProtKB)
IPI
GO:0005515
P16615 (UniProtKB)
IPI
GO:0005515
P16615 (UniProtKB)
IPI
GO:0005524
P16615 (UniProtKB)
IEA
GO:0005783
P16615 (UniProtKB)
IDA
GO:0005789
P16615 (UniProtKB)
IDA
GO:0005789
P16615 (UniProtKB)
TAS
GO:0005887
P16615 (UniProtKB)
TAS
GO:0006874
P16615 (UniProtKB)
IDA
GO:0006984
P16615 (UniProtKB)
IEA
GO:0006996
P16615 (UniProtKB)
IEA
GO:0007155
P16615 (UniProtKB)
TAS
GO:0008022
P16615 (UniProtKB)
IEA
GO:0008022
P16615 (UniProtKB)
IPI
GO:0008544
P16615 (UniProtKB)
TAS
GO:0010460
P16615 (UniProtKB)
TAS
GO:0010882
P16615 (UniProtKB)
IEA
GO:0010882
P16615 (UniProtKB)
IDA
GO:0012506
P16615 (UniProtKB)
IEA
GO:0014801
P16615 (UniProtKB)
IDA
GO:0014801
P16615 (UniProtKB)
IDA
GO:0014883
P16615 (UniProtKB)
IEA
GO:0016020
P16615 (UniProtKB)
IDA
GO:0016529
P16615 (UniProtKB)
IDA
GO:0016529
P16615 (UniProtKB)
IDA
GO:0019899
P16615 (UniProtKB)
IPI
GO:0031095
P16615 (UniProtKB)
TAS
GO:0031234
P16615 (UniProtKB)
IEA
GO:0031775
P16615 (UniProtKB)
IEA
GO:0032469
P16615 (UniProtKB)
IDA
GO:0032469
P16615 (UniProtKB)
IDA
GO:0032469
P16615 (UniProtKB)
IDA
GO:0032469
P16615 (UniProtKB)
IDA
GO:0032469
P16615 (UniProtKB)
IDA
GO:0032470
P16615 (UniProtKB)
IDA
GO:0032470
P16615 (UniProtKB)
IDA
GO:0032470
P16615 (UniProtKB)
IDA
GO:0032470
P16615 (UniProtKB)
IDA
GO:0033017
P16615 (UniProtKB)
IC
GO:0033017
P16615 (UniProtKB)
IC
GO:0033017
P16615 (UniProtKB)
IC
GO:0033017
P16615 (UniProtKB)
TAS
GO:0033292
P16615 (UniProtKB)
IEA
GO:0034220
P16615 (UniProtKB)
TAS
GO:0034599
P16615 (UniProtKB)
IEA
GO:0034976
P16615 (UniProtKB)
ISS
GO:0043234
P16615 (UniProtKB)
IEA
GO:0043434
P16615 (UniProtKB)
IEA
GO:0044548
P16615 (UniProtKB)
IPI
GO:0045822
P16615 (UniProtKB)
IEA
GO:0048471
P16615 (UniProtKB)
IEA
GO:0055119
P16615 (UniProtKB)
IEA
GO:0055119
P16615 (UniProtKB)
IDA
GO:0070296
P16615 (UniProtKB)
TAS
GO:0070296
P16615 (UniProtKB)
TAS
GO:0070588
P16615 (UniProtKB)
IDA
GO:0070588
P16615 (UniProtKB)
IDA
GO:0070588
P16615 (UniProtKB)
IDA
GO:0070588
P16615 (UniProtKB)
IDA
GO:0086036
P16615 (UniProtKB)
ISS
GO:0086036
P16615 (UniProtKB)
IEA
GO:0086036
P16615 (UniProtKB)
IEA
GO:0086036
P16615 (UniProtKB)
IEA
GO:0086036
P16615 (UniProtKB)
IC
GO:0086036
P16615 (UniProtKB)
TAS
GO:0086039
P16615 (UniProtKB)
ISS
GO:0086039
P16615 (UniProtKB)
IC
GO:0086039
P16615 (UniProtKB)
IC
GO:0086039
P16615 (UniProtKB)
IC
GO:0086039
P16615 (UniProtKB)
IC
GO:0086039
P16615 (UniProtKB)
TAS
GO:0090534
P16615 (UniProtKB)
IDA
GO:0090534
P16615 (UniProtKB)
IDA
GO:0090534
P16615 (UniProtKB)
IDA
GO:0097470
P16615 (UniProtKB)
IEA
GO:0098909
P16615 (UniProtKB)
ISS
GO:1903233
P16615 (UniProtKB)
IEA
GO:1903515
P16615 (UniProtKB)
IDA
GO:1903515
P16615 (UniProtKB)
IDA
GO:1903515
P16615 (UniProtKB)
IDA
GO:1903515
P16615 (UniProtKB)
IDA
GO:1903779
P16615 (UniProtKB)
TAS
GO:1990036
P16615 (UniProtKB)
ISS
GO:1990036
P16615 (UniProtKB)
IC
GO:1990036
P16615 (UniProtKB)
IC
GO:1990036
P16615 (UniProtKB)
IC
GO:1990036
P16615 (UniProtKB)
IC
GO:0014704
P16615 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 ATP2A2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

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
Keratosis Follicularis 0.592586463 33 5 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Acrokeratosis Verruciformis of Hopf 0.360814326 3 2 BeFree_CLINVAR_ORPHANET_UNIPROT
Diabetes Mellitus, Non-Insulin-Dependent 0.20272435 3 0 CTD_human_LHGDN_RGD
Heart failure 0.202442977 11 1 BeFree_CTD_human_RGD
Diabetic Cardiomyopathies 0.200814326 5 0 BeFree_CTD_human_RGD
Diabetes Mellitus, Experimental 0.2 2 0 CTD_human_RGD
Schizophrenia 0.120271442 2 1 BeFree_GWASCAT
Darier Disease, Segmental 0.120271442 1 2 BeFree_CLINVAR
Ventricular Dysfunction, Left 0.12 1 0 CTD_human
Cardiomegaly 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

山东省济南市章丘区文博路2号 齐鲁师范学院 genelibs生信实验室

山东省济南市高新区舜华路750号大学科技园北区F座4单元2楼

电话： 0531-88819269

E-mail: product@genelibs.com

微信公众号

关注微信订阅号，实时查看信息，关注医学生物学动态。

版权所有 © 2025.Genelibs 济南弘晖生物技术有限公司 鲁ICP备13024435号-2