JUP (junction plakoglobin)

基因基本信息

基因基本信息

symbol:
JUP
locus group:
protein-coding gene
location:
17q21.2
gene_family:
Armadillo repeat containing
alias symbol:
DP3|PDGB|PKGB|DPIII|PG
alias name:
desmosomal protein 3
entrez id:
3728
ensembl gene id:
ENSG00000173801
ucsc gene id:
uc002hxs.3
refseq accession:
NM_001352773
hgnc_id:
HGNC:6207
approved reserved:
1991-03-04

基因染色体位置

基因染色体位置

17q21.2
基因染色体位置图

基因简述

基因简述

JUP基因编码的蛋白称为连接斑珠蛋白（Junction Plakoglobin），也被称为γ-连环蛋白（γ-catenin），属于连环蛋白（catenin）基因家族。这个家族的主要功能是参与细胞间粘附和细胞信号传导，特别是通过与钙粘素（cadherin）蛋白结合来维持细胞间的连接和组织的结构完整性。JUP蛋白在细胞膜上与桥粒斑蛋白（desmosomal proteins）结合，形成桥粒（desmosomes），这对于维持皮肤、心肌等组织的机械强度和稳定性至关重要。JUP还参与Wnt信号通路，通过调节β-连环蛋白（β-catenin）的活性影响细胞增殖和分化。JUP基因突变可能导致其功能丧失或异常，与多种疾病相关。例如，JUP突变可导致Naxos病和Carvajal综合征，这两种罕见的遗传性疾病主要表现为皮肤角化异常、心肌病和羊毛状头发。在Naxos病中，JUP突变导致桥粒结构缺陷，影响心脏和皮肤的稳定性。JUP的异常表达也与肿瘤发生相关，过表达可能促进某些癌症的侵袭和转移，而表达降低则可能破坏细胞间连接，增加肿瘤的恶性程度。JUP在维持上皮组织和心肌结构中的关键作用使其成为研究组织稳定性和相关疾病的重要靶点。

This gene encodes a major cytoplasmic protein which is the only known constituent common to submembranous plaques of both desmosomes and intermediate junctions. This protein forms distinct complexes with cadherins and desmosomal cadherins and is a member of the catenin family since it contains a distinct repeating amino acid motif called the armadillo repeat. Mutation in this gene has been associated with Naxos disease. Alternative splicing occurs in this gene; however, not all transcripts have been fully described. [provided by RefSeq, Jul 2008]

该基??因编码的主要胞浆蛋白是通用的桥粒和中间路口近膜质斑块已知的唯一组成部分。这种蛋白质形成不同的复合物钙粘蛋白和钙粘素的桥粒，是连环蛋白家族的一员，因为它含有一种称为犰狳重复鲜明的重复氨基酸基序。在这种基因突变已与纳克索斯疾病有关。选择性剪接发生在这个基因;然而，并非所有的转录物已经被充分地描述。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

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

基因突变

基因突变

JUP基因的碱基突变：           仅显示部分snp
rs1126821       rs1126985       rs2230407       rs2230408       rs2353021       rs2353022       rs2353023       rs4290524       rs4293437       rs4313851       rs4313852       rs4318261       rs4350615       rs4456550       rs4479305       rs4606765       rs4627408      

基因表达

基因表达

JUP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
ATACTCAGCCACGATGGAG
59
GTCGTAGGTGTATGTCTGCT
59
TTGATCAGGAATCTGGCCC
59
CTCACACCATCCGTGTAGG
59
GCCTCGTCGATACTACCTG
59
CATCGTGGCTACTGAAGGT
59
ATACACCTACGACTCGGGT
59
TACTCCAGATCACCTTGGC
58
CCTCGTCGATACTACCTGC
59
CATCGTGGCTACTGAAGGT
59
CTACGACTCGGGTATCCAC
59
GGTACTCCAGATCACCTTGG
59
CCTACACGGATGGTGTGAG
59
GACTCACCTGCACAAACAG
59
CATACTCAGCCACGATGGA
59
TCGTAGGTGTATGTCTGCTG
59
ATACTCAGCCACGATGGAG
59
TCGTAGGTGTATGTCTGCTG
59
CTACGACTCGGGTATCCAC
59
TACTCCAGATCACCTTGGC
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）
DNMT3A
JUP
Unknown
17998942

基因本体信息

JUP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

JUP基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0002159
C9J826 (UniProtKB)
IEA
GO:0004871
C9J826 (UniProtKB)
IEA
GO:0005198
C9J826 (UniProtKB)
IEA
GO:0005913
C9J826 (UniProtKB)
IEA
GO:0007155
C9J826 (UniProtKB)
IEA
GO:0007165
C9J826 (UniProtKB)
IEA
GO:0016342
C9J826 (UniProtKB)
IEA
GO:0034333
C9J826 (UniProtKB)
IEA
GO:0045294
C9J826 (UniProtKB)
IEA
GO:0045296
C9J826 (UniProtKB)
IEA
GO:0002159
C9JK18 (UniProtKB)
IEA
GO:0004871
C9JK18 (UniProtKB)
IEA
GO:0005198
C9JK18 (UniProtKB)
IEA
GO:0005913
C9JK18 (UniProtKB)
IEA
GO:0007155
C9JK18 (UniProtKB)
IEA
GO:0007165
C9JK18 (UniProtKB)
IEA
GO:0016342
C9JK18 (UniProtKB)
IEA
GO:0034333
C9JK18 (UniProtKB)
IEA
GO:0045294
C9JK18 (UniProtKB)
IEA
GO:0045296
C9JK18 (UniProtKB)
IEA
GO:0002159
C9JKY1 (UniProtKB)
IEA
GO:0004871
C9JKY1 (UniProtKB)
IEA
GO:0005198
C9JKY1 (UniProtKB)
IEA
GO:0005913
C9JKY1 (UniProtKB)
IEA
GO:0007155
C9JKY1 (UniProtKB)
IEA
GO:0007165
C9JKY1 (UniProtKB)
IEA
GO:0016342
C9JKY1 (UniProtKB)
IEA
GO:0034333
C9JKY1 (UniProtKB)
IEA
GO:0045294
C9JKY1 (UniProtKB)
IEA
GO:0045296
C9JKY1 (UniProtKB)
IEA
GO:0002159
C9JTX4 (UniProtKB)
IEA
GO:0004871
C9JTX4 (UniProtKB)
IEA
GO:0005198
C9JTX4 (UniProtKB)
IEA
GO:0005913
C9JTX4 (UniProtKB)
IEA
GO:0007155
C9JTX4 (UniProtKB)
IEA
GO:0007165
C9JTX4 (UniProtKB)
IEA
GO:0016342
C9JTX4 (UniProtKB)
IEA
GO:0034333
C9JTX4 (UniProtKB)
IEA
GO:0045294
C9JTX4 (UniProtKB)
IEA
GO:0045296
C9JTX4 (UniProtKB)
IEA
GO:0002159
P14923 (UniProtKB)
IMP
GO:0002159
P14923 (UniProtKB)
IDA
GO:0003713
P14923 (UniProtKB)
IDA
GO:0004871
P14923 (UniProtKB)
IEA
GO:0005198
P14923 (UniProtKB)
NAS
GO:0005199
P14923 (UniProtKB)
IC
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005515
P14923 (UniProtKB)
IPI
GO:0005634
P14923 (UniProtKB)
IMP
GO:0005737
P14923 (UniProtKB)
IMP
GO:0005829
P14923 (UniProtKB)
ISS
GO:0005856
P14923 (UniProtKB)
ISS
GO:0005882
P14923 (UniProtKB)
IEA
GO:0005886
P14923 (UniProtKB)
IDA
GO:0005886
P14923 (UniProtKB)
IDA
GO:0005886
P14923 (UniProtKB)
TAS
GO:0005886
P14923 (UniProtKB)
TAS
GO:0005911
P14923 (UniProtKB)
IDA
GO:0005911
P14923 (UniProtKB)
IDA
GO:0005911
P14923 (UniProtKB)
IDA
GO:0005911
P14923 (UniProtKB)
IDA
GO:0005911
P14923 (UniProtKB)
IDA
GO:0005913
P14923 (UniProtKB)
IDA
GO:0005915
P14923 (UniProtKB)
ISS
GO:0005916
P14923 (UniProtKB)
IEA
GO:0005925
P14923 (UniProtKB)
IDA
GO:0007016
P14923 (UniProtKB)
NAS
GO:0007165
P14923 (UniProtKB)
IEA
GO:0009898
P14923 (UniProtKB)
ISS
GO:0014704
P14923 (UniProtKB)
IDA
GO:0014704
P14923 (UniProtKB)
IDA
GO:0014704
P14923 (UniProtKB)
IDA
GO:0015629
P14923 (UniProtKB)
IEA
GO:0016327
P14923 (UniProtKB)
IEA
GO:0016328
P14923 (UniProtKB)
IEA
GO:0016337
P14923 (UniProtKB)
IDA
GO:0016337
P14923 (UniProtKB)
IMP
GO:0016342
P14923 (UniProtKB)
IDA
GO:0016477
P14923 (UniProtKB)
IMP
GO:0019901
P14923 (UniProtKB)
IEA
GO:0019903
P14923 (UniProtKB)
IPI
GO:0030018
P14923 (UniProtKB)
IEA
GO:0030057
P14923 (UniProtKB)
IDA
GO:0032993
P14923 (UniProtKB)
IDA
GO:0034332
P14923 (UniProtKB)
TAS
GO:0034333
P14923 (UniProtKB)
IEA
GO:0042127
P14923 (UniProtKB)
IDA
GO:0042307
P14923 (UniProtKB)
IDA
GO:0042307
P14923 (UniProtKB)
IDA
GO:0042803
P14923 (UniProtKB)
ISS
GO:0043588
P14923 (UniProtKB)
IEA
GO:0045294
P14923 (UniProtKB)
IPI
GO:0045294
P14923 (UniProtKB)
IPI
GO:0045294
P14923 (UniProtKB)
IPI
GO:0045296
P14923 (UniProtKB)
IPI
GO:0045296
P14923 (UniProtKB)
IPI
GO:0045296
P14923 (UniProtKB)
IPI
GO:0050839
P14923 (UniProtKB)
IPI
GO:0050982
P14923 (UniProtKB)
IDA
GO:0051091
P14923 (UniProtKB)
IDA
GO:0051291
P14923 (UniProtKB)
IEA
GO:0070062
P14923 (UniProtKB)
IDA
GO:0070062
P14923 (UniProtKB)
IDA
GO:0071603
P14923 (UniProtKB)
ISS
GO:0071665
P14923 (UniProtKB)
IDA
GO:0071681
P14923 (UniProtKB)
IDA
GO:0086073
P14923 (UniProtKB)
IMP
GO:0086083
P14923 (UniProtKB)
IC
GO:0086091
P14923 (UniProtKB)
IMP
GO:0090002
P14923 (UniProtKB)
IMP
GO:0090263
P14923 (UniProtKB)
IC
GO:0098911
P14923 (UniProtKB)
IMP
GO:0030056
P14923 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 JUP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
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 0.44 1 2 CLINVAR_CTD_human_MGD_UNIPROT
Naxos disease 0.44 0 4 CLINVAR_CTD_human_MGD_ORPHANET
Prostatic Neoplasms 0.12272435 2 0 CTD_human_LHGDN
Epidermolysis bullosa, lethal acantholytic 0.12 0 0 ORPHANET
Liver diseases 0.12 1 0 CTD_human
No-Reflow Phenomenon 0.12 1 0 CTD_human
Hyperkeratosis, Epidermolytic 0.08 0 0 MGD
Arrhythmogenic Right Ventricular Dysplasia 0.013907006 10 0 BeFree_GAD_LHGDN
Squamous cell carcinoma 0.00272435 1 0 LHGDN
Renal Cell Carcinoma 0.00272435 1 0 LHGDN

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