MUC4 (mucin 4, cell surface associated)

基因基本信息

基因基本信息

symbol:
MUC4
locus group:
protein-coding gene
location:
3q29
gene_family:
Mucins
alias symbol:
None
alias name:
None
entrez id:
4585
ensembl gene id:
ENSG00000145113
ucsc gene id:
uc021xjp.3
refseq accession:
NM_018406
hgnc_id:
HGNC:7514
approved reserved:
1991-05-22

基因染色体位置

基因染色体位置

3q29
基因染色体位置图

基因简述

基因简述

MUC4是一种属于黏蛋白基因家族的成员，该家族以编码分泌型或膜结合型糖蛋白为特征，这些蛋白在黏膜保护和细胞信号传导中发挥重要作用。MUC4基因编码的蛋白是一种高分子量的膜结合型黏蛋白，主要由上皮细胞表达，尤其在呼吸道、消化道和生殖道等黏膜组织中高度表达。MUC4蛋白的主要功能包括润滑和保护黏膜表面、参与细胞间相互作用以及调节细胞增殖和分化。MUC4通过其胞外结构域与受体如ERBB2（HER2）相互作用，激活下游信号通路，影响细胞生长和存活。MUC4的突变或异常表达与多种疾病相关，尤其是癌症。在胰腺癌、肺癌和乳腺癌等恶性肿瘤中，MUC4常出现过表达，促进肿瘤细胞的侵袭、转移和免疫逃逸。MUC4的高表达可能通过激活ERBB2信号通路或干扰细胞黏附来促进肿瘤进展。相反，MUC4表达降低可能影响黏膜屏障功能，增加感染或炎症风险。此外，MUC4的某些突变可能导致其功能丧失，与某些遗传性疾病或黏膜功能障碍相关。MUC4基因属于MUC基因家族，该家族成员均含有串联重复序列，这些序列富含丝氨酸、苏氨酸和脯氨酸，可被高度糖基化，赋予黏蛋白其典型的凝胶形成和润滑特性。MUC家族成员在维持黏膜稳态、防御病原体和调节免疫反应中具有共性。MUC4的过表达不仅影响肿瘤生物学行为，还可能干扰其他黏蛋白（如MUC1或MUC5AC）的功能，破坏黏膜屏障的完整性。研究MUC4的调控机制及其在疾病中的作用，有助于开发针对癌症或其他黏膜相关疾病的诊断标志物或治疗靶点。

The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface, although secreted isoforms may exist. At least two dozen transcript variants of this gene have been found, although for many of them the full-length transcript has not been determined or they are found only in tumor tissues. This gene contains a region in the coding sequence which has a variable number (>100) of 48 nt tandem repeats. [provided by RefSeq, Jul 2008]

粘液的主要成分，覆盖上皮表面，如那些在气管，结肠和子宫颈粘性分泌，是高度糖基化蛋白称为粘蛋白。这些糖蛋白中的上皮细胞的保护中起重要作用，并在上皮更新和分化有牵连。该基因编码的细胞表面上发现了一个完整的膜糖蛋白，尽管可能存在分泌同种型。至少已发现该基因的两打转录变异体，尽管对于许多他们的全长转录物尚未确定，或者它们被发现仅在肿瘤组织中。该基因包含在其中具有48个核苷酸串联重复的可变数目（> 100）的编码序列的区域。 [由RefSeq的，2008年7月提供]

OMIM数据库中对MUC4基因的介绍     Wikipedia数据库中对MUC4基因的介绍

基因序列

基因序列

MUC4基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

MUC4基因的碱基突变：           仅显示部分snp
rs2641771       rs62282516       rs140410906       rs145937154       rs148240800       rs150382313       rs527802056       rs530148471       rs540774046       rs548299005       rs554691342       rs556526150       rs559832974       rs560585754       rs567505038       rs571177879       rs572862168      

基因表达

基因表达

MUC4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
CTACCAAGCCATCCTCTCC
59
AATAGCCATCTCCACTGAGC
60
TTCCCTCTACGCTTCACAG
59
TCACCATAGAACGTCTCGT
58
TTCCCTCTACGCTTCACAG
59
TCACCATAGAACGTCTCGT
58
CAACTGTCAACCTAGAACTTCC
59
TTGACTTCTGCCATGGAGG
60
TGATTCCCTCTACTTCACAGAC
59
AGTGGAGAAGTCAGCATCG
60
TGGAACGAATCGATTCTGC
58
TTCAGGAAGTCAATGACCG
58
ATTTCCACCATTCCCAGCA
60
AAGAGGGAAACTCCTGTATGG
59
TTTATCAGAGCAACACCTACC
58
TTTCGAAATAGCCATCTCCA
57
CAACTGTCAACCTAGAACTTCC
59
TTGACTTCTGCCATGGAGG
60
CAGGAGTTTCCCTCTTCCC
59
GCCATTGTCTGTGAAGTAGAG
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）
CREB1
MUC4
Activation
19757157
CREB1
MUC4
Unknown
11418607
E2F1
MUC4
Activation
22537161
ELK1
MUC4
Activation
19757157
ETS1
MUC4
Activation
19757157
ETV4
MUC4
Activation
15461591
NR3C1
MUC4
Unknown
11418607
SP1
MUC4
Unknown
11418607
SP3
MUC4
Unknown
11418607
STAT1
MUC4
Activation
19757157; 22537161

基因本体信息

MUC4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

MUC4基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0007160
A0A0G2JM16 (UniProtKB)
IEA
GO:0016021
A0A0G2JM16 (UniProtKB)
IEA
GO:0007160
A0A0G2JM65 (UniProtKB)
IEA
GO:0016021
A0A0G2JM65 (UniProtKB)
IEA
GO:0007160
A0A0G2JMX1 (UniProtKB)
IEA
GO:0016021
A0A0G2JMX1 (UniProtKB)
IEA
GO:0007160
A0A0G2JN54 (UniProtKB)
IEA
GO:0007160
A0A0G2JNJ5 (UniProtKB)
IEA
GO:0016021
A0A0G2JNJ5 (UniProtKB)
IEA
GO:0007160
A0A0G2JNL3 (UniProtKB)
IEA
GO:0016021
A0A0G2JNL3 (UniProtKB)
IEA
GO:0007160
A0A0G2JNM3 (UniProtKB)
IEA
GO:0016021
A0A0G2JNM3 (UniProtKB)
IEA
GO:0007160
A0A0G2JPA4 (UniProtKB)
IEA
GO:0016021
A0A0G2JPA4 (UniProtKB)
IEA
GO:0007160
A0A0G2JQC1 (UniProtKB)
IEA
GO:0016021
A0A0G2JQC1 (UniProtKB)
IEA
GO:0007160
A0A0G2JQC6 (UniProtKB)
IEA
GO:0007160
A0A0G2JQI2 (UniProtKB)
IEA
GO:0007160
A0A0G2JQJ2 (UniProtKB)
IEA
GO:0016021
A0A0G2JQJ2 (UniProtKB)
IEA
GO:0007160
A0A0G2JQK9 (UniProtKB)
IEA
GO:0007160
A0A0G2JQN9 (UniProtKB)
IEA
GO:0007160
A0A0G2JQT8 (UniProtKB)
IEA
GO:0016021
A0A0G2JQT8 (UniProtKB)
IEA
GO:0007160
A0A0G2JR43 (UniProtKB)
IEA
GO:0007160
A0A0G2JR97 (UniProtKB)
IEA
GO:0016021
A0A0G2JR97 (UniProtKB)
IEA
GO:0007160
A0A0G2JRA1 (UniProtKB)
IEA
GO:0016021
A0A0G2JRA1 (UniProtKB)
IEA
GO:0007160
A0A0G2JRJ6 (UniProtKB)
IEA
GO:0007160
A0A0G2JRK4 (UniProtKB)
IEA
GO:0007160
A0A0G2JRT1 (UniProtKB)
IEA
GO:0007160
A0A0G2JRU8 (UniProtKB)
IEA
GO:0016021
A0A0G2JRU8 (UniProtKB)
IEA
GO:0007160
A0A0G2JS19 (UniProtKB)
IEA
GO:0007160
A0A0G2JS65 (UniProtKB)
IEA
GO:0016021
A0A0G2JS65 (UniProtKB)
IEA
GO:0007160
A0A0G2JSB1 (UniProtKB)
IEA
GO:0016021
A0A0G2JSB1 (UniProtKB)
IEA
GO:0007160
A0A0G2JSC3 (UniProtKB)
IEA
GO:0016021
A0A0G2JSC3 (UniProtKB)
IEA
GO:0007160
E7ENC5 (UniProtKB)
IEA
GO:0016021
E7ENC5 (UniProtKB)
IEA
GO:0007160
E7EQT2 (UniProtKB)
IEA
GO:0007160
E7ETT5 (UniProtKB)
IEA
GO:0007160
E7EWN1 (UniProtKB)
IEA
GO:0007160
E9PDY6 (UniProtKB)
IEA
GO:0016021
E9PDY6 (UniProtKB)
IEA
GO:0005176
Q99102 (UniProtKB)
TAS
GO:0005578
Q99102 (UniProtKB)
NAS
GO:0005615
Q99102 (UniProtKB)
IDA
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005796
Q99102 (UniProtKB)
TAS
GO:0005887
Q99102 (UniProtKB)
TAS
GO:0007160
Q99102 (UniProtKB)
IEA
GO:0016020
Q99102 (UniProtKB)
NAS
GO:0016266
Q99102 (UniProtKB)
TAS
GO:0016266
Q99102 (UniProtKB)
TAS
GO:0030197
Q99102 (UniProtKB)
NAS
GO:0030277
Q99102 (UniProtKB)
IMP
GO:0031982
Q99102 (UniProtKB)
IDA
GO:0070062
Q99102 (UniProtKB)
IDA
GO:0070062
Q99102 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 MUC4基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

IntAct

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
Prostatic Neoplasms 0.1254487 3 0 CTD_human_LHGDN
Renal Cell Carcinoma 0.12 1 0 CTD_human
Spontaneous abortion 0.12 1 0 CTD_human
Neoplasm Metastasis 0.084071628 15 0 BeFree_RGD
Cholangiocarcinoma 0.08272435 1 0 LHGDN_RGD
Otitis Media 0.08272435 2 0 LHGDN_RGD
Corneal Neovascularization 0.08 1 0 RGD
Fetal Growth Retardation 0.08 1 0 RGD
Inflammatory disease of mucous membrane 0.08 1 0 RGD
Nematode infections 0.08 1 0 RGD

基因相关服务

基因相关服务

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