TGFBR2 (transforming growth factor beta receptor 2)

基因基本信息

基因基本信息

symbol:
TGFBR2
locus group:
protein-coding gene
location:
3p24.1
gene_family:
Type II receptor serine/threonine kinases
alias symbol:
TBRII|TBR-ii
alias name:
None
entrez id:
7048
ensembl gene id:
ENSG00000163513
ucsc gene id:
uc003ceo.4
refseq accession:
NM_001024847
hgnc_id:
HGNC:11773
approved reserved:
1993-09-30

基因染色体位置

基因染色体位置

3p24.1
基因染色体位置图

基因简述

基因简述

TGFBR2（转化生长因子β受体2，Transforming Growth Factor Beta Receptor 2）是一种跨膜蛋白受体，属于TGF-β受体家族。该基因编码的蛋白质是TGF-β信号通路的关键组成部分，通过与TGF-β配体结合并和TGFBR1形成复合物，激活下游的SMAD蛋白（一类参与信号转导的蛋白质），进而调控细胞增殖、分化、凋亡、迁移及细胞外基质合成等生物学过程。TGFBR2的主要作用位点是细胞膜，其功能异常会影响多种组织的稳态，尤其在胚胎发育、免疫调节和伤口愈合中起重要作用。TGFBR2的突变可能导致功能丧失，与多种疾病相关，例如马凡综合征（一种结缔组织疾病）、Loeys-Dietz综合征（一种血管和结缔组织异常疾病）以及多种癌症（如结直肠癌、胃癌）。在癌症中，TGFBR2的突变或表达降低可能导致TGF-β信号通路抑制，从而促进肿瘤细胞的增殖和转移。相反，在某些纤维化疾病中，TGFBR2的过表达可能加剧纤维化进程，因其过度激活会促进细胞外基质的过度沉积。TGFBR2属于TGF-β受体家族，该家族成员均具有丝氨酸/苏氨酸激酶活性（一种能够磷酸化其他蛋白质的酶活性），并通过类似的机制传递信号。基因家族的共性包括参与细胞生长和分化的调控，并在发育和疾病中发挥多重作用。TGFBR2的表达水平变化可能影响其他基因的表达，例如下调可能减少SMAD蛋白的激活，从而影响下游靶基因（如细胞周期调控基因）的表达；而过表达可能增强TGF-β信号，导致过度纤维化或免疫抑制。该基因的异常表达或突变对机体的影响复杂，可能因组织类型和疾病背景而异。

This gene encodes a member of the Ser/Thr protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]

该基因编码的丝氨酸/苏氨酸蛋白激酶家族和TGFB受体亚家族的一个成员。所编码的蛋白质是具有蛋白激酶结构域，形成与另一受体蛋白质的异二聚体复合物，并结合的TGF-β的跨膜蛋白。该受体/配体复合物磷酸化的蛋白质，然后进入细胞核，并调节与细胞增殖的基因的一个子集的转录。在这个基因的突变已与马凡综合征，Loeys-德茨主动脉瘤综合征，以及各种类型的肿瘤的发展有关。编码不同同种型的可变剪接转录物变体已被表征。 [由RefSeq的，2008年7月提供]

OMIM数据库中对TGFBR2基因的介绍     Wikipedia数据库中对TGFBR2基因的介绍

基因序列

基因序列

TGFBR2基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

TGFBR2基因的碱基突变：           仅显示部分snp
rs764522       rs1243107       rs2306856       rs3087463       rs3087464       rs3087465       rs3806639       rs3806640       rs3821674       rs4593064       rs6550004       rs6808594       rs7648606       rs9842164       rs11466475       rs11466476       rs11466477      

基因表达

基因表达

TGFBR2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
AAATCCTGCATGAGCAACTG
59
CATTCTTTCTCCATACAGCCAC
60
GTTCAGAAGTCGGATGTGG
58
TATGTCTCAGTGGATGGGC
59
GTTCAGAAGTCGGTTAATAACG
58
TTTCTGGTTGTCACAGGTG
58
TCAGAAGTCGGTTAATAACGAC
58
ATTTCTGGTTGTCACAGGTG
58
TTCAGAAGTCGGATGTGGA
58
TATGTCTCAGTGGATGGGC
59
AATCCTGCATGAGCAACTG
59
CATTCTTTCTCCATACAGCCAC
60
AATCCTGCATGAGCAACTG
59
CATTCTTTCTCCATACAGCCA
58
TCAGAAGTCGGTTAATAACGAC
58
TTTCTGGTTGTCACAGGTG
58
GAAGTCGGATGTGGAAATGG
59
TATGTCTCAGTGGATGGGC
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）
EGR1
TGFBR2
Unknown
10982796
ETS1
TGFBR2
Activation
14976186
ETS1
TGFBR2
Unknown
10508522
ETV4
TGFBR2
Unknown
14976186
EWSR1
TGFBR2
Repression
10508522
FLI1
TGFBR2
Activation
10508522
FLI1
TGFBR2
Repression
10508522
HDAC2
TGFBR2
Repression
19088080
KLF14
TGFBR2
Repression
19088080
SP1
TGFBR2
Unknown
10982796; 11687969

基因本体信息

TGFBR2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

TGFBR2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0001568
P37173 (UniProtKB)
TAS
GO:0001569
P37173 (UniProtKB)
ISS
GO:0001570
P37173 (UniProtKB)
ISS
GO:0001701
P37173 (UniProtKB)
IEA
GO:0002053
P37173 (UniProtKB)
ISS
GO:0002088
P37173 (UniProtKB)
IEA
GO:0002651
P37173 (UniProtKB)
ISS
GO:0002663
P37173 (UniProtKB)
ISS
GO:0002666
P37173 (UniProtKB)
ISS
GO:0003430
P37173 (UniProtKB)
IEA
GO:0004675
P37173 (UniProtKB)
IDA
GO:0004702
P37173 (UniProtKB)
IEA
GO:0005024
P37173 (UniProtKB)
IC
GO:0005024
P37173 (UniProtKB)
IMP
GO:0005024
P37173 (UniProtKB)
IDA
GO:0005024
P37173 (UniProtKB)
IDA
GO:0005026
P37173 (UniProtKB)
IEA
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005515
P37173 (UniProtKB)
IPI
GO:0005524
P37173 (UniProtKB)
IEA
GO:0005539
P37173 (UniProtKB)
IDA
GO:0005829
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
IDA
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005886
P37173 (UniProtKB)
TAS
GO:0005901
P37173 (UniProtKB)
IDA
GO:0006468
P37173 (UniProtKB)
IDA
GO:0006898
P37173 (UniProtKB)
IEA
GO:0006915
P37173 (UniProtKB)
IDA
GO:0007179
P37173 (UniProtKB)
IMP
GO:0007179
P37173 (UniProtKB)
IMP
GO:0007179
P37173 (UniProtKB)
IC
GO:0007179
P37173 (UniProtKB)
IMP
GO:0007179
P37173 (UniProtKB)
IDA
GO:0007179
P37173 (UniProtKB)
TAS
GO:0007179
P37173 (UniProtKB)
TAS
GO:0007182
P37173 (UniProtKB)
IEA
GO:0007219
P37173 (UniProtKB)
IEA
GO:0007224
P37173 (UniProtKB)
IEA
GO:0007369
P37173 (UniProtKB)
IEA
GO:0007420
P37173 (UniProtKB)
ISS
GO:0007507
P37173 (UniProtKB)
ISS
GO:0007566
P37173 (UniProtKB)
IEA
GO:0007568
P37173 (UniProtKB)
IEA
GO:0007584
P37173 (UniProtKB)
IEA
GO:0008284
P37173 (UniProtKB)
TAS
GO:0009612
P37173 (UniProtKB)
IEA
GO:0009749
P37173 (UniProtKB)
IEA
GO:0009897
P37173 (UniProtKB)
IDA
GO:0010468
P37173 (UniProtKB)
IEA
GO:0010634
P37173 (UniProtKB)
IEA
GO:0010718
P37173 (UniProtKB)
IDA
GO:0016021
P37173 (UniProtKB)
IDA
GO:0018105
P37173 (UniProtKB)
IDA
GO:0018107
P37173 (UniProtKB)
IDA
GO:0023014
P37173 (UniProtKB)
IEA
GO:0030512
P37173 (UniProtKB)
TAS
GO:0030512
P37173 (UniProtKB)
TAS
GO:0030512
P37173 (UniProtKB)
TAS
GO:0031100
P37173 (UniProtKB)
IEA
GO:0031435
P37173 (UniProtKB)
IEA
GO:0032147
P37173 (UniProtKB)
ISS
GO:0034713
P37173 (UniProtKB)
IDA
GO:0034713
P37173 (UniProtKB)
IPI
GO:0034714
P37173 (UniProtKB)
IDA
GO:0035162
P37173 (UniProtKB)
ISS
GO:0042060
P37173 (UniProtKB)
IEA
GO:0042127
P37173 (UniProtKB)
ISS
GO:0042493
P37173 (UniProtKB)
IDA
GO:0043011
P37173 (UniProtKB)
ISS
GO:0043235
P37173 (UniProtKB)
IDA
GO:0043235
P37173 (UniProtKB)
IDA
GO:0043235
P37173 (UniProtKB)
IDA
GO:0043415
P37173 (UniProtKB)
IEA
GO:0043627
P37173 (UniProtKB)
IEA
GO:0045121
P37173 (UniProtKB)
IDA
GO:0045766
P37173 (UniProtKB)
IEA
GO:0046332
P37173 (UniProtKB)
IDA
GO:0046332
P37173 (UniProtKB)
IDA
GO:0046332
P37173 (UniProtKB)
IDA
GO:0046872
P37173 (UniProtKB)
IEA
GO:0048565
P37173 (UniProtKB)
IEA
GO:0048661
P37173 (UniProtKB)
IEA
GO:0048701
P37173 (UniProtKB)
ISS
GO:0050431
P37173 (UniProtKB)
IDA
GO:0050431
P37173 (UniProtKB)
IPI
GO:0050431
P37173 (UniProtKB)
IPI
GO:0050431
P37173 (UniProtKB)
IPI
GO:0050431
P37173 (UniProtKB)
IPI
GO:0050431
P37173 (UniProtKB)
IDA
GO:0050431
P37173 (UniProtKB)
IDA
GO:0050431
P37173 (UniProtKB)
IDA
GO:0051138
P37173 (UniProtKB)
ISS
GO:0060021
P37173 (UniProtKB)
ISS
GO:0060044
P37173 (UniProtKB)
IEA
GO:0060389
P37173 (UniProtKB)
IDA
GO:0060389
P37173 (UniProtKB)
IDA
GO:0060434
P37173 (UniProtKB)
IEA
GO:0060440
P37173 (UniProtKB)
IEA
GO:0060443
P37173 (UniProtKB)
IEA
GO:0060463
P37173 (UniProtKB)
IEA
GO:0070022
P37173 (UniProtKB)
IC
GO:0070723
P37173 (UniProtKB)
IDA
GO:1990086
P37173 (UniProtKB)
IEA
GO:2000379
P37173 (UniProtKB)
IMP
GO:0050431
P37173 (UniProtKB)
IPI
GO:0050431
P37173 (UniProtKB)
IPI

基因相关microRNA

基因相关microRNA

可能调控 TGFBR2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
Aortic aneurysm, familial thoracic 3 0.32 9 2 CTD_human_MGD_UNIPROT
Marfan Syndrome 0.260236045 27 1 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Loeys-Dietz Syndrome 0.250314791 40 11 BeFree_CLINVAR_CTD_human
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6 0.24 1 3 CLINVAR_UNIPROT
Liver Cirrhosis, Experimental 0.2 2 0 CTD_human_RGD
Aortic Aneurysm, Thoracic 0.133268314 16 0 BeFree_CTD_human_GAD
Aortic Aneurysm 0.126720033 9 1 BeFree_CTD_human_GAD_LHGDN
Malignant neoplasm of breast 0.126167218 16 1 BeFree_GAD_GWASCAT
Neoplasm Metastasis 0.125981653 14 0 BeFree_CTD_human_LHGDN
Hereditary Nonpolyposis Colorectal Neoplasms 0.1254487 3 0 CTD_human_LHGDN

基因相关服务

基因相关服务

联系方式

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