TGFB3 (transforming growth factor beta 3)

基因基本信息

基因基本信息

symbol:
TGFB3
locus group:
protein-coding gene
location:
14q24.3
gene_family:
Endogenous ligands
alias symbol:
None
alias name:
prepro-transforming growth factor …
entrez id:
7043
ensembl gene id:
ENSG00000119699
ucsc gene id:
uc001xsc.3
refseq accession:
NM_003239
hgnc_id:
HGNC:11769
approved reserved:
1989-05-10

基因染色体位置

基因染色体位置

14q24.3
基因染色体位置图

基因简述

基因简述

TGFB3（转化生长因子β3，Transforming Growth Factor Beta 3）属于TGF-β超家族（TGF-β superfamily），该家族是一类分泌型细胞因子，主要调控细胞增殖、分化、凋亡、免疫反应和组织修复等过程。TGFB3基因编码的蛋白质是一种多功能细胞因子，通过结合细胞表面的TGF-β受体（如TGFBR1和TGFBR2）激活SMAD信号通路，进而调控靶基因的表达。TGFB3在胚胎发育、伤口愈合、心脏形态发生和腭裂形成中起关键作用，尤其在腭发育过程中抑制上皮细胞增殖，促进间充质细胞转化，防止腭裂（cleft palate）的发生。TGFB3突变可能导致功能丧失，与先天性腭裂、心血管畸形（如马凡综合征相关表型）及某些纤维化疾病相关。若TGFB3过表达，可能加剧组织纤维化（如肺或肝纤维化），因其促进细胞外基质沉积；而表达降低则可能引发发育缺陷（如腭裂）或伤口愈合障碍。TGFB3与TGFB1、TGFB2同属TGF-β亚家族，三者功能部分重叠但时空表达各异：TGFB1侧重免疫调节，TGFB2参与心血管发育，TGFB3则更多影响形态发生。该家族共性为通过SMAD依赖或非依赖通路调控细胞行为，且活性需经潜在相关肽（LAP，Latency-Associated Peptide）切割释放。目前“潜在相关肽”等术语的中文译法存在争议，部分文献直译为潜伏相关肽（原英文：Latency-Associated Peptide）。

This gene encodes a member of the TGF-beta family of proteins. The encoded protein is secreted and is involved in embryogenesis and cell differentiation. Defects in this gene are a cause of familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Mar 2009]

此基因编码的TGF-β蛋白质家族的一个成员。所编码的蛋白质被分泌，并参与胚胎发育和细胞分化。这种基因缺陷是家族性致心律失常性右心室发育不良1. [由RefSeq的，2009年3月提供]的原因

OMIM数据库中对TGFB3基因的介绍     Wikipedia数据库中对TGFB3基因的介绍

基因序列

基因序列

TGFB3基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

TGFB3基因的碱基突变：           仅显示部分snp
rs11624517       rs74066632       rs75383455       rs76328216       rs78091597       rs79337397       rs114597133       rs116928407       rs139654889       rs140178562       rs142452451       rs143295148       rs146368462       rs148809953       rs182548649       rs184624196       rs187200424      

基因表达

基因表达

TGFB3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
TCAAATTCAAAGGCGTGGA
58
TTGTGGTGATCCTTCTGCT
59
GATGACATTTCTGCGAGAGC
59
AATCATCCACTCAGACGCC
59
CACGCTCATTGTTTCTGCA
59
TGAGCCATTTAGTAAGTGCAG
58
TGGAAGTCCTGAAGCTCTC
58
GATCCCAAAGACTGAGGCT
59
GGAAGTCCTGAAGCTCTCG
59
AGATCCCAAAGACTGAGGC
59
GGAAATCAAATTCAAAGGCGTG
59
TGATCCTTCTGCTTCTTGAGG
59
ATGACATTTCTGCGAGAGC
58
CAATCATCCACTCAGACGC
58
AGCACGCTCATTGTTTCTG
59
AGCCATTTAGTAAGTGCAGC
58
GGAAGTCCTGAAGCTCTCG
59
GATCCCAAAGACTGAGGCT
59
GAAATCAAATTCAAAGGCGTGG
59
GTGATCCTTCTGCTTCTTGAG
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）
HIF1A
TGFB3
Activation
16611863
HIF1A
TGFB3
Repression
10831118

基因本体信息

TGFB3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

TGFB3基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000187
P10600 (UniProtKB)
IEA
GO:0001666
P10600 (UniProtKB)
IDA
GO:0001701
P10600 (UniProtKB)
ISS
GO:0002576
P10600 (UniProtKB)
TAS
GO:0005114
P10600 (UniProtKB)
IDA
GO:0005114
P10600 (UniProtKB)
IPI
GO:0005114
P10600 (UniProtKB)
IDA
GO:0005114
P10600 (UniProtKB)
IMP
GO:0005114
P10600 (UniProtKB)
IMP
GO:0005125
P10600 (UniProtKB)
IBA
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005515
P10600 (UniProtKB)
IPI
GO:0005576
P10600 (UniProtKB)
TAS
GO:0005576
P10600 (UniProtKB)
TAS
GO:0005576
P10600 (UniProtKB)
TAS
GO:0005615
P10600 (UniProtKB)
IBA
GO:0005634
P10600 (UniProtKB)
IEA
GO:0005886
P10600 (UniProtKB)
IC
GO:0007179
P10600 (UniProtKB)
IDA
GO:0007184
P10600 (UniProtKB)
IEA
GO:0007435
P10600 (UniProtKB)
IEP
GO:0007565
P10600 (UniProtKB)
IEA
GO:0007568
P10600 (UniProtKB)
IEA
GO:0008083
P10600 (UniProtKB)
IEA
GO:0008156
P10600 (UniProtKB)
IMP
GO:0008285
P10600 (UniProtKB)
ISS
GO:0009986
P10600 (UniProtKB)
IEA
GO:0010718
P10600 (UniProtKB)
ISS
GO:0010718
P10600 (UniProtKB)
IDA
GO:0010862
P10600 (UniProtKB)
ISS
GO:0010862
P10600 (UniProtKB)
IBA
GO:0010936
P10600 (UniProtKB)
IDA
GO:0016049
P10600 (UniProtKB)
IEA
GO:0030315
P10600 (UniProtKB)
IEA
GO:0030501
P10600 (UniProtKB)
IEP
GO:0030512
P10600 (UniProtKB)
IEA
GO:0030879
P10600 (UniProtKB)
ISS
GO:0031012
P10600 (UniProtKB)
IDA
GO:0031093
P10600 (UniProtKB)
TAS
GO:0032570
P10600 (UniProtKB)
IDA
GO:0032967
P10600 (UniProtKB)
IMP
GO:0034616
P10600 (UniProtKB)
IEA
GO:0034713
P10600 (UniProtKB)
IDA
GO:0034714
P10600 (UniProtKB)
IMP
GO:0034714
P10600 (UniProtKB)
IMP
GO:0042060
P10600 (UniProtKB)
IEA
GO:0042127
P10600 (UniProtKB)
IBA
GO:0042476
P10600 (UniProtKB)
NAS
GO:0042704
P10600 (UniProtKB)
TAS
GO:0042802
P10600 (UniProtKB)
IDA
GO:0042981
P10600 (UniProtKB)
IBA
GO:0043025
P10600 (UniProtKB)
IEA
GO:0043065
P10600 (UniProtKB)
ISS
GO:0043408
P10600 (UniProtKB)
IBA
GO:0043524
P10600 (UniProtKB)
ISS
GO:0043627
P10600 (UniProtKB)
IEA
GO:0043932
P10600 (UniProtKB)
IEP
GO:0045216
P10600 (UniProtKB)
IDA
GO:0045740
P10600 (UniProtKB)
IMP
GO:0045893
P10600 (UniProtKB)
ISS
GO:0045893
P10600 (UniProtKB)
IDA
GO:0045944
P10600 (UniProtKB)
ISS
GO:0046982
P10600 (UniProtKB)
IEA
GO:0048286
P10600 (UniProtKB)
ISS
GO:0048565
P10600 (UniProtKB)
IEA
GO:0048702
P10600 (UniProtKB)
IEA
GO:0048839
P10600 (UniProtKB)
IEA
GO:0050431
P10600 (UniProtKB)
IDA
GO:0050714
P10600 (UniProtKB)
IDA
GO:0051491
P10600 (UniProtKB)
ISS
GO:0051781
P10600 (UniProtKB)
IEA
GO:0060021
P10600 (UniProtKB)
ISS
GO:0060325
P10600 (UniProtKB)
IMP
GO:0060364
P10600 (UniProtKB)
IEA
GO:0060391
P10600 (UniProtKB)
ISS
GO:0060395
P10600 (UniProtKB)
IBA
GO:0070483
P10600 (UniProtKB)
IDA
GO:1905005
P10600 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 TGFB3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
RIENHOFF SYNDROME 0.24 1 4 CLINVAR_UNIPROT
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1 (disorder) 0.24 0 2 CLINVAR_CTD_human
Cleft Palate 0.143560699 16 0 BeFree_CTD_human_GAD_LHGDN
Congenital abnormality of respiratory system 0.12 1 0 CTD_human
Diabetic Neuropathies 0.08 1 0 RGD
Cleft Lip 0.020379342 10 0 BeFree_GAD_LHGDN
Cleft Lip with or without Cleft Palate 0.005819831 6 0 BeFree_GAD
Anoxia 0.0054487 2 0 LHGDN
Hypertensive disease 0.005276948 4 0 BeFree_GAD
Keloid 0.003452799 5 0 BeFree_GAD

基因相关服务

基因相关服务

联系方式

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