CANX (calnexin)

基因基本信息

基因基本信息

symbol:
CANX
locus group:
protein-coding gene
location:
5q35.3
gene_family:
alias symbol:
CNX|IP90|P90
alias name:
major histocompatibility complex c…
entrez id:
821
ensembl gene id:
ENSG00000127022
ucsc gene id:
uc003mkl.4
refseq accession:
NM_001024649
hgnc_id:
HGNC:1473
approved reserved:
1993-07-12

基因染色体位置

基因染色体位置

5q35.3
基因染色体位置图

基因简述

基因简述

CANX基因编码钙联蛋白（Calnexin），是一种位于内质网（ER）膜上的分子伴侣蛋白，属于“钙联蛋白/钙网蛋白家族”（Calnexin/Calreticulin family）。该家族成员均依赖钙离子（Ca²⁺）发挥作用，通过识别新生糖蛋白上的单糖残基（如葡萄糖修饰的N-聚糖）协助其正确折叠，并参与质量控制机制，错误折叠的蛋白会被靶向降解。CANX的生物学功能包括：（1）与新生糖蛋白结合，防止其聚集并促进折叠；（2）与ERp57（一种二硫键异构酶）协作修复错误二硫键；（3）通过内质网相关降解（ERAD）途径标记错误折叠蛋白，使其被蛋白酶体清除。其作用位点主要在内质网腔侧及跨膜区。突变可能导致CANX功能丧失，引发内质网应激（ER stress）和未折叠蛋白反应（UPR），进而影响免疫球蛋白、MHC I类分子等关键蛋白的成熟，与多种疾病相关，如先天性糖基化障碍（CDG）、神经退行性疾病（如阿尔茨海默病）和自身免疫性疾病。过表达CANX可能增强内质网蛋白折叠能力，但过度激活UPR会诱发细胞凋亡；低表达则导致错误折叠蛋白累积，加速疾病进展。该基因家族共性包括：依赖钙离子、具有凝集素样糖结合结构域（lectin domain）和保守的P结构域（与ERp57结合）。目前中文术语“钙联蛋白”为广泛接受译名，无需额外标注英文。

This gene encodes a member of the calnexin family of molecular chaperones. The encoded protein is a calcium-binding, endoplasmic reticulum (ER)-associated protein that interacts transiently with newly synthesized N-linked glycoproteins, facilitating protein folding and assembly. It may also play a central role in the quality control of protein folding by retaining incorrectly folded protein subunits within the ER for degradation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]

该基因编码的钙联接蛋白家族分子伴侣的成员。所编码的蛋白质是钙结合，内质网（ER）相关，与新合成的N-连接的糖蛋白瞬时相互作用，促进蛋白质折叠和装配蛋白。它也可以通过对ER降解内保持不正确折叠的蛋白质亚基在蛋白质折叠的质量控制中心作用。编码相同蛋白质可变剪接转录物变体已有描述。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

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

基因突变

基因突变

CANX基因的碱基突变：           仅显示部分snp
rs6639       rs7566       rs10387       rs14539       rs1134924       rs1135225       rs1135233       rs1135895       rs1135903       rs1135927       rs1135933       rs3205295       rs4235518       rs4391132       rs4441842       rs4526069       rs4643906      

基因表达

基因表达

CANX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
CTGTTCTGGAAAGAAACAGACC
60
TCTTCCTCTTCCTTCACATCC
59
GACAGAGGAACTCTGTCAGG
60
CTCCCACTTTCCATCATATTTGG
60
TGACGATGTCATTGAAGAGGT
60
GCTTTGTAAGTAACCTTGGGAG
59
AACCTAAAGCAGAGGAGGT
58
CTTAACAAGCCACCTGCTC
59
CAGATGCAGATCTGAAGACCT
60
CCACAGATTGGTCAACCAG
59
AGGACTTGTGTTGATGTCTC
58
ACCTCATACTGAACAATGAGAG
58
GACTACAGATCATGGAAGGGA
59
CATGTCCATCATGAGCCTC
58
CAGATGCAGATCTGAAGACC
58
CCACAGATTGGTCAACCAG
59
CTGGAAAGAAACAGACCAGTG
59
TCTCTTCTTCCTCTTCCTTCAC
59
ACTTGTGTTGATGTCTCGG
58
ACCTCATACTGAACAATGAGAG
58

转录因子

转录因子

      尚未收录相关数据

基因本体信息

CANX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

CANX基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0005509
D6RAQ8 (UniProtKB)
IEA
GO:0005783
D6RAQ8 (UniProtKB)
IDA
GO:0006457
D6RAQ8 (UniProtKB)
IEA
GO:0051082
D6RAQ8 (UniProtKB)
IEA
GO:0005509
D6RAU8 (UniProtKB)
IEA
GO:0005783
D6RAU8 (UniProtKB)
IDA
GO:0006457
D6RAU8 (UniProtKB)
IEA
GO:0051082
D6RAU8 (UniProtKB)
IEA
GO:0005509
D6RB85 (UniProtKB)
IEA
GO:0005783
D6RB85 (UniProtKB)
IDA
GO:0006457
D6RB85 (UniProtKB)
IEA
GO:0051082
D6RB85 (UniProtKB)
IEA
GO:0005509
D6RD16 (UniProtKB)
IEA
GO:0005783
D6RD16 (UniProtKB)
IEA
GO:0006457
D6RD16 (UniProtKB)
IEA
GO:0051082
D6RD16 (UniProtKB)
IEA
GO:0005509
D6RDP7 (UniProtKB)
IEA
GO:0005783
D6RDP7 (UniProtKB)
IDA
GO:0006457
D6RDP7 (UniProtKB)
IEA
GO:0051082
D6RDP7 (UniProtKB)
IEA
GO:0005509
D6RFL1 (UniProtKB)
IEA
GO:0005783
D6RFL1 (UniProtKB)
IEA
GO:0006457
D6RFL1 (UniProtKB)
IEA
GO:0051082
D6RFL1 (UniProtKB)
IEA
GO:0005509
D6RG29 (UniProtKB)
IEA
GO:0005783
D6RG29 (UniProtKB)
IEA
GO:0006457
D6RG29 (UniProtKB)
IEA
GO:0051082
D6RG29 (UniProtKB)
IEA
GO:0005509
D6RGY2 (UniProtKB)
IEA
GO:0005783
D6RGY2 (UniProtKB)
IEA
GO:0006457
D6RGY2 (UniProtKB)
IEA
GO:0051082
D6RGY2 (UniProtKB)
IEA
GO:0005509
D6RHJ3 (UniProtKB)
IEA
GO:0005783
D6RHJ3 (UniProtKB)
IEA
GO:0006457
D6RHJ3 (UniProtKB)
IEA
GO:0051082
D6RHJ3 (UniProtKB)
IEA
GO:0005509
H0Y9H1 (UniProtKB)
IEA
GO:0005783
H0Y9H1 (UniProtKB)
IEA
GO:0006457
H0Y9H1 (UniProtKB)
IEA
GO:0051082
H0Y9H1 (UniProtKB)
IEA
GO:0005509
H0Y9Q7 (UniProtKB)
IEA
GO:0005783
H0Y9Q7 (UniProtKB)
IEA
GO:0006457
H0Y9Q7 (UniProtKB)
IEA
GO:0051082
H0Y9Q7 (UniProtKB)
IEA
GO:0001948
P27824 (UniProtKB)
IEA
GO:0002474
P27824 (UniProtKB)
TAS
GO:0005509
P27824 (UniProtKB)
IEA
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005515
P27824 (UniProtKB)
IPI
GO:0005783
P27824 (UniProtKB)
IDA
GO:0005783
P27824 (UniProtKB)
IDA
GO:0005783
P27824 (UniProtKB)
IDA
GO:0005783
P27824 (UniProtKB)
IDA
GO:0005783
P27824 (UniProtKB)
IDA
GO:0005783
P27824 (UniProtKB)
IDA
GO:0005783
P27824 (UniProtKB)
IDA
GO:0005788
P27824 (UniProtKB)
TAS
GO:0005788
P27824 (UniProtKB)
TAS
GO:0005788
P27824 (UniProtKB)
TAS
GO:0005788
P27824 (UniProtKB)
TAS
GO:0005788
P27824 (UniProtKB)
TAS
GO:0005789
P27824 (UniProtKB)
IDA
GO:0005789
P27824 (UniProtKB)
IDA
GO:0005789
P27824 (UniProtKB)
IDA
GO:0005789
P27824 (UniProtKB)
IDA
GO:0005790
P27824 (UniProtKB)
IEA
GO:0005791
P27824 (UniProtKB)
IEA
GO:0005829
P27824 (UniProtKB)
IEA
GO:0005840
P27824 (UniProtKB)
IEA
GO:0006457
P27824 (UniProtKB)
TAS
GO:0007568
P27824 (UniProtKB)
IEA
GO:0009306
P27824 (UniProtKB)
TAS
GO:0016020
P27824 (UniProtKB)
IDA
GO:0019886
P27824 (UniProtKB)
TAS
GO:0030246
P27824 (UniProtKB)
IEA
GO:0030424
P27824 (UniProtKB)
IEA
GO:0032839
P27824 (UniProtKB)
IEA
GO:0034185
P27824 (UniProtKB)
IEA
GO:0034975
P27824 (UniProtKB)
TAS
GO:0035255
P27824 (UniProtKB)
IEA
GO:0042470
P27824 (UniProtKB)
IEA
GO:0043025
P27824 (UniProtKB)
IEA
GO:0043197
P27824 (UniProtKB)
IEA
GO:0043209
P27824 (UniProtKB)
IEA
GO:0043234
P27824 (UniProtKB)
IEA
GO:0044233
P27824 (UniProtKB)
IDA
GO:0044822
P27824 (UniProtKB)
IDA
GO:0044822
P27824 (UniProtKB)
IDA
GO:0048488
P27824 (UniProtKB)
ISS
GO:0051082
P27824 (UniProtKB)
IEA
GO:0061077
P27824 (UniProtKB)
IEA
GO:0070062
P27824 (UniProtKB)
IDA
GO:0070062
P27824 (UniProtKB)
IDA
GO:0071556
P27824 (UniProtKB)
TAS
GO:0071556
P27824 (UniProtKB)
TAS
GO:0072583
P27824 (UniProtKB)
ISS
GO:0070062
P27824 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 CANX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
Myocardial Ischemia 0.12 1 0 CTD_human
RESTING HEART RATE 0.12 1 1 GWASCAT
IGA Glomerulonephritis 0.12 1 0 CTD_human
melanoma 0.003810118 4 0 BeFree_LHGDN
Nephrogenic Diabetes Insipidus 0.002638474 1 0 BeFree_GAD
Malignant neoplasm of breast 0.000814326 3 0 BeFree
Breast Carcinoma 0.000814326 3 0 BeFree
Charcot-Marie-Tooth Disease 0.000814326 3 1 BeFree
Rubella 0.000542884 2 0 BeFree
Recurrent tumor 0.000271442 1 0 BeFree

基因相关服务

基因相关服务

联系方式

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