TGFB2 (transforming growth factor beta 2)

基因基本信息

基因基本信息

symbol:
TGFB2
locus group:
protein-coding gene
location:
1q41
gene_family:
Endogenous ligands
alias symbol:
None
alias name:
prepro-transforming growth factor …
entrez id:
7042
ensembl gene id:
ENSG00000092969
ucsc gene id:
uc001hlm.4
refseq accession:
NM_003238
hgnc_id:
HGNC:11768
approved reserved:
1989-05-10

基因染色体位置

基因染色体位置

1q41
基因染色体位置图

基因简述

基因简述

TGFB2（转化生长因子β2，Transforming Growth Factor Beta 2）属于TGF-β超家族，该家族以调控细胞增殖、分化、凋亡、免疫反应和组织修复等功能著称。TGFB2编码一种分泌型多功能细胞因子，需经蛋白水解激活才能与受体结合，通过SMAD信号通路（一类介导TGF-β家族信号的细胞内蛋白质）调控靶基因表达。其作用位点广泛，包括胚胎发育中的心脏、骨骼、神经系统，以及成体的血管、结缔组织和免疫系统。突变可能导致功能丧失或异常激活，与马凡综合征（心血管和骨骼异常）、角膜营养不良（角膜混浊）及某些癌症（如胶质瘤、乳腺癌）相关。过表达会促进纤维化（器官组织异常瘢痕化）和免疫抑制，加剧肿瘤转移；而表达不足则可能引发发育缺陷（如心脏畸形）或伤口愈合障碍。TGFB2与家族成员TGFB1、TGFB3共享约70%氨基酸同源性，均通过相同受体传递信号，但各亚型具有组织特异性表达模式——例如TGFB2在神经系统发育中作用更突出。该基因的调控异常还影响其他基因如COL1A1（胶原蛋白基因）和MMPs（基质金属蛋白酶，参与组织重塑），导致细胞外基质代谢紊乱。

This gene encodes a member of the transforming growth factor beta (TGFB) family of cytokines, which are multifunctional peptides that regulate proliferation, differentiation, adhesion, migration, and other functions in many cell types by transducing their signal through combinations of transmembrane type I and type II receptors (TGFBR1 and TGFBR2) and their downstream effectors, the SMAD proteins. Disruption of the TGFB/SMAD pathway has been implicated in a variety of human cancers. The encoded protein is secreted and has suppressive effects of interleukin-2 dependent T-cell growth. Translocation t(1;7)(q41;p21) between this gene and HDAC9 is associated with Peters' anomaly, a congenital defect of the anterior chamber of the eye. The knockout mice lacking this gene show perinatal mortality and a wide range of developmental, including cardiac, defects. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Sep 2010]

该基因编码转化生长因子β（TGFB）家族细胞因子，它们是通过组合转导的信号调节细胞增殖，分化，迁移，黏附等功能在多种细胞类型多功能肽中的一员跨膜的I型和II型受体（TGFBR1和TGFBR2）及其下游效应的SMAD蛋白。的TGFB / Smad通路的破坏已牵涉于多种人类癌症。所编码的蛋白质被分泌并具有白细胞介素-2依赖T细胞生长的抑制效果。易位t（1; 7）;该基因和HDAC9之间（Q41的p21）与Peters的异常，眼睛的前房的先天缺陷相关联。缺乏这种基因节目围产期死亡率和广泛的发展，包括心脏，缺陷基因敲除小鼠。编码不同同种型的可变剪接转录物变体也已确定。 [由RefSeq的，2010年9月提供]

OMIM数据库中对TGFB2基因的介绍     Wikipedia数据库中对TGFB2基因的介绍

基因序列

基因序列

TGFB2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

TGFB2基因的碱基突变：           仅显示部分snp
rs885829       rs1106569       rs1557153       rs6604604       rs6656367       rs6658835       rs7550232       rs9331507       rs10482718       rs10482719       rs10482720       rs10482721       rs10482722       rs10482723       rs10482724       rs10482725       rs11466361      

基因表达

基因表达

TGFB2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
TCTGTGGGTACCTTGATGC
59
TCTTCTCCATTGCTGAGACG
60
CCTTCGATGTAACTGATGCTG
59
GGTTCCTGTTGAACATCTTGG
60
TACAATGCCAACTTCTGTGC
59
ATATAAGCTCAGGACCCTGC
59
ACATCGACAGCAAAGTTGTG
60
CAGGTTCCTGTCTTTATGGTG
59
TGAAAGCAGAGTTCAGAGTC
58
GGACTTGAGAATCTGATATAGCTC
59
CATCGACAGCAAAGTTGTG
58
CAGGTTCCTGTCTTTATGGT
57
GCAGAGTTCAGAGTCTTTCG
59
GGACTTGAGAATCTGATATAGCTC
59
AACTGATGCTGTTCATGAATGG
60
GGTTCCTGTTGAACATCTTGG
60
TCTGTGGGTACCTTGATGC
59
TTCTCCATTGCTGAGACGT
59
CGGATTGAGCTATATCAGATTCTC
59
TTTCACAACTTTGCTGTCGA
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）
ATF1
TGFB2
Activation
11776974
ATF2
TGFB2
Repression
1400310
USF1
TGFB2
Activation
11776974
USF2
TGFB2
Activation
11776974
USF2
TGFB2
Unknown
8943301

基因本体信息

TGFB2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

TGFB2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000902
P61812 (UniProtKB)
IDA
GO:0001502
P61812 (UniProtKB)
IEA
GO:0001525
P61812 (UniProtKB)
TAS
GO:0001540
P61812 (UniProtKB)
IDA
GO:0001654
P61812 (UniProtKB)
IDA
GO:0001666
P61812 (UniProtKB)
IMP
GO:0001837
P61812 (UniProtKB)
IDA
GO:0001837
P61812 (UniProtKB)
TAS
GO:0001837
P61812 (UniProtKB)
IDA
GO:0001942
P61812 (UniProtKB)
ISS
GO:0001942
P61812 (UniProtKB)
IDA
GO:0001974
P61812 (UniProtKB)
IEA
GO:0002576
P61812 (UniProtKB)
TAS
GO:0003007
P61812 (UniProtKB)
IDA
GO:0003179
P61812 (UniProtKB)
IEA
GO:0003203
P61812 (UniProtKB)
ISS
GO:0004702
P61812 (UniProtKB)
IDA
GO:0005102
P61812 (UniProtKB)
IMP
GO:0005114
P61812 (UniProtKB)
IDA
GO:0005114
P61812 (UniProtKB)
IPI
GO:0005114
P61812 (UniProtKB)
IPI
GO:0005114
P61812 (UniProtKB)
IPI
GO:0005114
P61812 (UniProtKB)
IMP
GO:0005114
P61812 (UniProtKB)
IMP
GO:0005125
P61812 (UniProtKB)
TAS
GO:0005160
P61812 (UniProtKB)
IDA
GO:0005160
P61812 (UniProtKB)
IDA
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005515
P61812 (UniProtKB)
IPI
GO:0005576
P61812 (UniProtKB)
IDA
GO:0005576
P61812 (UniProtKB)
TAS
GO:0005576
P61812 (UniProtKB)
TAS
GO:0005576
P61812 (UniProtKB)
TAS
GO:0005615
P61812 (UniProtKB)
IDA
GO:0005768
P61812 (UniProtKB)
IEA
GO:0006468
P61812 (UniProtKB)
IDA
GO:0007050
P61812 (UniProtKB)
IDA
GO:0007179
P61812 (UniProtKB)
IDA
GO:0007179
P61812 (UniProtKB)
IDA
GO:0007184
P61812 (UniProtKB)
IDA
GO:0007267
P61812 (UniProtKB)
TAS
GO:0007411
P61812 (UniProtKB)
IEA
GO:0007435
P61812 (UniProtKB)
IEP
GO:0007507
P61812 (UniProtKB)
IDA
GO:0008083
P61812 (UniProtKB)
IEA
GO:0008219
P61812 (UniProtKB)
IDA
GO:0008283
P61812 (UniProtKB)
TAS
GO:0008284
P61812 (UniProtKB)
IDA
GO:0008285
P61812 (UniProtKB)
IDA
GO:0008347
P61812 (UniProtKB)
IDA
GO:0009611
P61812 (UniProtKB)
IEP
GO:0009611
P61812 (UniProtKB)
IEP
GO:0009790
P61812 (UniProtKB)
TAS
GO:0010002
P61812 (UniProtKB)
IDA
GO:0010628
P61812 (UniProtKB)
IEA
GO:0010629
P61812 (UniProtKB)
IEA
GO:0010634
P61812 (UniProtKB)
IDA
GO:0010693
P61812 (UniProtKB)
IDA
GO:0010718
P61812 (UniProtKB)
IDA
GO:0010718
P61812 (UniProtKB)
IDA
GO:0010862
P61812 (UniProtKB)
IBA
GO:0010936
P61812 (UniProtKB)
IDA
GO:0014068
P61812 (UniProtKB)
IDA
GO:0016049
P61812 (UniProtKB)
IEA
GO:0016477
P61812 (UniProtKB)
IDA
GO:0023014
P61812 (UniProtKB)
IEA
GO:0030097
P61812 (UniProtKB)
ISS
GO:0030199
P61812 (UniProtKB)
IDA
GO:0030307
P61812 (UniProtKB)
IDA
GO:0030307
P61812 (UniProtKB)
IDA
GO:0030308
P61812 (UniProtKB)
IDA
GO:0030424
P61812 (UniProtKB)
ISS
GO:0030593
P61812 (UniProtKB)
ISS
GO:0030593
P61812 (UniProtKB)
TAS
GO:0031012
P61812 (UniProtKB)
IDA
GO:0031069
P61812 (UniProtKB)
ISS
GO:0031093
P61812 (UniProtKB)
TAS
GO:0032147
P61812 (UniProtKB)
IDA
GO:0032147
P61812 (UniProtKB)
IDA
GO:0032570
P61812 (UniProtKB)
IDA
GO:0032874
P61812 (UniProtKB)
IDA
GO:0032909
P61812 (UniProtKB)
IMP
GO:0032956
P61812 (UniProtKB)
IEA
GO:0033630
P61812 (UniProtKB)
IDA
GO:0033630
P61812 (UniProtKB)
IDA
GO:0034714
P61812 (UniProtKB)
IPI
GO:0034714
P61812 (UniProtKB)
IPI
GO:0034714
P61812 (UniProtKB)
IMP
GO:0034714
P61812 (UniProtKB)
IMP
GO:0042060
P61812 (UniProtKB)
ISS
GO:0042416
P61812 (UniProtKB)
ISS
GO:0042476
P61812 (UniProtKB)
NAS
GO:0042493
P61812 (UniProtKB)
IDA
GO:0042637
P61812 (UniProtKB)
IDA
GO:0042704
P61812 (UniProtKB)
TAS
GO:0042803
P61812 (UniProtKB)
IDA
GO:0043025
P61812 (UniProtKB)
ISS
GO:0043525
P61812 (UniProtKB)
IDA
GO:0045216
P61812 (UniProtKB)
IDA
GO:0045726
P61812 (UniProtKB)
IDA
GO:0045778
P61812 (UniProtKB)
IEP
GO:0045787
P61812 (UniProtKB)
ISS
GO:0045823
P61812 (UniProtKB)
IDA
GO:0046580
P61812 (UniProtKB)
ISS
GO:0046982
P61812 (UniProtKB)
TAS
GO:0048103
P61812 (UniProtKB)
ISS
GO:0048566
P61812 (UniProtKB)
IEP
GO:0048663
P61812 (UniProtKB)
IEA
GO:0048666
P61812 (UniProtKB)
ISS
GO:0048699
P61812 (UniProtKB)
TAS
GO:0050680
P61812 (UniProtKB)
IMP
GO:0050680
P61812 (UniProtKB)
IDA
GO:0050714
P61812 (UniProtKB)
IDA
GO:0050777
P61812 (UniProtKB)
TAS
GO:0050778
P61812 (UniProtKB)
ISS
GO:0051781
P61812 (UniProtKB)
IEA
GO:0051795
P61812 (UniProtKB)
IDA
GO:0051891
P61812 (UniProtKB)
IDA
GO:0060038
P61812 (UniProtKB)
IDA
GO:0060317
P61812 (UniProtKB)
IDA
GO:0060325
P61812 (UniProtKB)
IEA
GO:0060389
P61812 (UniProtKB)
IDA
GO:0060389
P61812 (UniProtKB)
IDA
GO:0060395
P61812 (UniProtKB)
IBA
GO:0061037
P61812 (UniProtKB)
IEA
GO:0070237
P61812 (UniProtKB)
IEA
GO:0090091
P61812 (UniProtKB)
IEA
GO:0097191
P61812 (UniProtKB)
IDA
GO:1900182
P61812 (UniProtKB)
IEA
GO:1904426
P61812 (UniProtKB)
IEA
GO:1905006
P61812 (UniProtKB)
ISS
GO:1905007
P61812 (UniProtKB)
ISS
GO:2001241
P61812 (UniProtKB)
IEA
GO:1903659
P61812 (UniProtKB)
IMP

基因相关microRNA

基因相关microRNA

可能调控 TGFB2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

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
Loeys-Dietz Syndrome 0.241085767 4 1 BeFree_CLINVAR_CTD_human
LOEYS-DIETZ SYNDROME 4 0.24 1 4 CLINVAR_UNIPROT
Irido-corneo-trabecular dysgenesis (disorder) 0.2 0 0 MGD_ORPHANET
Glaucoma 0.121357209 6 0 BeFree_CTD_human
Aortic Aneurysm, Thoracic 0.121357209 5 1 BeFree_CTD_human
Endometriosis 0.120271442 2 0 BeFree_CTD_human
Congenital Heart Defects 0.120271442 2 0 BeFree_CTD_human
Eye Abnormalities 0.12 1 0 CTD_human
Ureteral obstruction 0.12 1 0 CTD_human
Urogenital Abnormalities 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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