• Gene id: 7048

Gene Summary

• Gene Symbol: TGFBR2   Gene   UCSC   Ensembl
• Aliases: AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TBR-ii, TBRII, TGFR-2, TGFbeta-RII
• Gene name: transforming growth factor beta receptor 2
• Alternate names: TGF-beta receptor type-2, TGF-beta receptor type IIB, TGF-beta type II receptor, tbetaR-II, transforming growth factor beta receptor II, transforming growth factor beta receptor type IIC, transforming growth factor, beta receptor II (70/80kDa), transforming grow,
• Gene location: 3p24.1 (30606471: 30694141)     Exons: 11     NC_000003.12
• Gene summary(Entrez): The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucle

Protein Summary

• Protein general information: P37173  
  • Name: TGF beta receptor type 2 (TGFR 2) (EC 2.7.11.30) (TGF beta type II receptor) (Transforming growth factor beta receptor type II) (TGF beta receptor type II) (TbetaR II)
  • Length: 567  
  • Mass: 64568
• Sequence:

  MGRGLLRGLWPLHIVLWTRIASTIPPHVQKSVNNDMIVTDNNGAVKFPQLCKFCDVRFSTCDNQKSCMSNCSITS
  ICEKPQEVCVAVWRKNDENITLETVCHDPKLPYHDFILEDAASPKCIMKEKKKPGETFFMCSCSSDECNDNIIFS
  EEYNTSNPDLLLVIFQVTGISLLPPLGVAISVIIIFYCYRVNRQQKLSSTWETGKTRKLMEFSEHCAIILEDDRS
  DISSTCANNINHNTELLPIELDTLVGKGRFAEVYKAKLKQNTSEQFETVAVKIFPYEEYASWKTEKDIFSDINLK
  HENILQFLTAEERKTELGKQYWLITAFHAKGNLQEYLTRHVISWEDLRKLGSSLARGIAHLHSDHTPCGRPKMPI
  VHRDLKSSNILVKNDLTCCLCDFGLSLRLDPTLSVDDLANSGQVGTARYMAPEVLESRMNLENVESFKQTDVYSM
  ALVLWEMTSRCNAVGEVKDYEPPFGSKVREHPCVESMKDNVLRDRGRPEIPSFWLNHQGIQMVCETLTECWDHDP
  EARLTAQCVAERFSELEHLDRLSGRSCSEEKIPEDGSLNTTK

• Structural information:
  • Protein Domains: (244..54-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159"-)
  • Interpro: IPR011009  IPR000719  IPR017441  IPR001245  IPR008271   IPR000333  IPR017194  IPR015013  
  • Prosite: PS00107 PS50011 PS00108
  • PDB: 1KTZ 1M9Z 1PLO 2PJY 3KFD 4P7U 4XJJ 5E8V 5E8Y 5E91 5E92 5QIN 5TX4 5TY4
  • PDBsum: 1KTZ 1M9Z 1PLO 2PJY 3KFD 4P7U 4XJJ 5E8V 5E8Y 5E91 5E92 5QIN 5TX4 5TY4
  • DIP: 5939
  • STRING: ENSP00000351905
• Other Databases: GeneCards:  TGFBR2  Malacards:  TGFBR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034713	type I transforming growth factor beta receptor binding	IBA	molecular function
GO:0017002	activin-activated receptor activity	IBA	molecular function
GO:0071363	cellular response to growth factor stimulus	IBA	biological process
GO:0050431	transforming growth factor beta binding	IBA	molecular function
GO:0043235	receptor complex	IBA	cellular component
GO:0007507	heart development	IBA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IBA	biological process
GO:0006468	protein phosphorylation	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005024	transforming growth factor beta-activated receptor activity	IBA	molecular function
GO:0004674	protein serine/threonine kinase activity	IBA	molecular function
GO:0048185	activin binding	IBA	molecular function
GO:0046332	SMAD binding	IBA	molecular function
GO:0045121	membrane raft	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005026	transforming growth factor beta receptor activity, type II	IEA	molecular function
GO:0007178	transmembrane receptor protein serine/threonine kinase signaling pathway	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0043235	receptor complex	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0004674	protein serine/threonine kinase activity	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0040008	regulation of growth	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	TAS	biological process
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001570	vasculogenesis	IEA	biological process
GO:0001947	heart looping	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0002666	positive regulation of T cell tolerance induction	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	IEA	biological process
GO:0003274	endocardial cushion fusion	IEA	biological process
GO:0003417	growth plate cartilage development	IEA	biological process
GO:0003430	growth plate cartilage chondrocyte growth	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0010634	positive regulation of epithelial cell migration	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	IEA	biological process
GO:0050431	transforming growth factor beta binding	IEA	molecular function
GO:0051138	positive regulation of NK T cell differentiation	IEA	biological process
GO:0051216	cartilage development	IEA	biological process
GO:0060433	bronchus development	IEA	biological process
GO:0060440	trachea formation	IEA	biological process
GO:0060443	mammary gland morphogenesis	IEA	biological process
GO:0060463	lung lobe morphogenesis	IEA	biological process
GO:0070723	response to cholesterol	IEA	biological process
GO:1990086	lens fiber cell apoptotic process	IEA	biological process
GO:0001570	vasculogenesis	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0005026	transforming growth factor beta receptor activity, type II	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0007566	embryo implantation	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0008285	negative regulation of cell population proliferation	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0043415	positive regulation of skeletal muscle tissue regeneration	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0048545	response to steroid hormone	IEA	biological process
GO:0060044	negative regulation of cardiac muscle cell proliferation	IEA	biological process
GO:0001569	branching involved in blood vessel morphogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0002053	positive regulation of mesenchymal cell proliferation	IEA	biological process
GO:0002651	positive regulation of tolerance induction to self antigen	IEA	biological process
GO:0002663	positive regulation of B cell tolerance induction	IEA	biological process
GO:0003149	membranous septum morphogenesis	IEA	biological process
GO:0003151	outflow tract morphogenesis	IEA	biological process
GO:0003181	atrioventricular valve morphogenesis	IEA	biological process
GO:0003186	tricuspid valve morphogenesis	IEA	biological process
GO:0003214	cardiac left ventricle morphogenesis	IEA	biological process
GO:0005024	transforming growth factor beta-activated receptor activity	IEA	molecular function
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007224	smoothened signaling pathway	IEA	biological process
GO:0007369	gastrulation	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0010468	regulation of gene expression	IEA	biological process
GO:0030324	lung development	IEA	biological process
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0043011	myeloid dendritic cell differentiation	IEA	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0046332	SMAD binding	IEA	molecular function
GO:0060412	ventricular septum morphogenesis	IEA	biological process
GO:0060425	lung morphogenesis	IEA	biological process
GO:0060434	bronchus morphogenesis	IEA	biological process
GO:0060439	trachea morphogenesis	IEA	biological process
GO:0062009	secondary palate development	IEA	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	IEA	biological process
GO:1905317	inferior endocardial cushion morphogenesis	IEA	biological process
GO:1990428	miRNA transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0006898	receptor-mediated endocytosis	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0007182	common-partner SMAD protein phosphorylation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0030324	lung development	IEA	biological process
GO:0031100	animal organ regeneration	IEA	biological process
GO:0031435	mitogen-activated protein kinase kinase kinase binding	IEA	molecular function
GO:0048565	digestive tract development	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0010718	positive regulation of epithelial to mesenchymal transition	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0050431	transforming growth factor beta binding	IDA	molecular function
GO:0004675	transmembrane receptor protein serine/threonine kinase activity	IDA	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IC	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IDA	molecular function
GO:0005539	glycosaminoglycan binding	IDA	molecular function
GO:0046332	SMAD binding	IDA	molecular function
GO:0046332	SMAD binding	IDA	molecular function
GO:0050431	transforming growth factor beta binding	IPI	contributes to
GO:0034713	type I transforming growth factor beta receptor binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0050431	transforming growth factor beta binding	IPI	molecular function
GO:0005024	transforming growth factor beta-activated receptor activity	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005901	caveola	IDA	cellular component
GO:0018105	peptidyl-serine phosphorylation	IDA	biological process
GO:0043235	receptor complex	IDA	cellular component
GO:0060389	pathway-restricted SMAD protein phosphorylation	IDA	biological process
GO:0070723	response to cholesterol	IDA	biological process
GO:2000563	positive regulation of CD4-positive, alpha-beta T cell proliferation	IDA	biological process
GO:0001570	vasculogenesis	ISS	biological process
GO:0002666	positive regulation of T cell tolerance induction	ISS	biological process
GO:0042127	regulation of cell population proliferation	ISS	biological process
GO:0048701	embryonic cranial skeleton morphogenesis	ISS	biological process
GO:0051138	positive regulation of NK T cell differentiation	ISS	biological process
GO:0006468	protein phosphorylation	IDA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IC	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IDA	biological process
GO:0009897	external side of plasma membrane	IDA	cellular component
GO:0016021	integral component of membrane	IDA	cellular component
GO:0018107	peptidyl-threonine phosphorylation	IDA	biological process
GO:0042493	response to drug	IDA	biological process
GO:0001947	heart looping	ISS	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0003274	endocardial cushion fusion	ISS	biological process
GO:1905316	superior endocardial cushion morphogenesis	ISS	NOT|biological process
GO:0001568	blood vessel development	TAS	biological process
GO:0001569	branching involved in blood vessel morphogenesis	ISS	biological process
GO:0002053	positive regulation of mesenchymal cell proliferation	ISS	biological process
GO:0002651	positive regulation of tolerance induction to self antigen	ISS	biological process
GO:0002663	positive regulation of B cell tolerance induction	ISS	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IMP	biological process
GO:0007420	brain development	ISS	biological process
GO:0007507	heart development	ISS	biological process
GO:0032147	activation of protein kinase activity	ISS	biological process
GO:0035162	embryonic hemopoiesis	ISS	biological process
GO:0043011	myeloid dendritic cell differentiation	ISS	biological process
GO:0062009	secondary palate development	ISS	biological process
GO:2000379	positive regulation of reactive oxygen species metabolic process	IMP	biological process
GO:1990428	miRNA transport	ISS	biological process
GO:0003151	outflow tract morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:1905007	positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation	ISS	biological process
GO:1905315	cell proliferation involved in endocardial cushion morphogenesis	ISS	NOT|biological process
GO:0003149	membranous septum morphogenesis	ISS	biological process
GO:0003181	atrioventricular valve morphogenesis	ISS	biological process
GO:0003186	tricuspid valve morphogenesis	ISS	biological process
GO:0003214	cardiac left ventricle morphogenesis	ISS	biological process
GO:1905317	inferior endocardial cushion morphogenesis	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0045121	membrane raft	IEA	cellular component
GO:0032924	activin receptor signaling pathway	IEA	biological process
GO:0006915	apoptotic process	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa04144	Endocytosis
hsa04060	Cytokine-cytokine receptor interaction
hsa05166	Human T-cell leukemia virus 1 infection
hsa05202	Transcriptional misregulation in cancer
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa04218	Cellular senescence
hsa05161	Hepatitis B
hsa04380	Osteoclast differentiation
hsa04926	Relaxin signaling pathway
hsa04068	FoxO signaling pathway
hsa04659	Th17 cell differentiation
hsa04350	TGF-beta signaling pathway
hsa05142	Chagas disease
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05212	Pancreatic cancer
hsa04520	Adherens junction

Diseases

Associated diseases	References
Colorectal cancer	KEGG:H00020
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Hepatocellular carcinoma	KEGG:H00048
Loeys-Dietz syndrome	KEGG:H00800
Colorectal cancer	KEGG:H00020
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Hepatocellular carcinoma	KEGG:H00048
Loeys-Dietz syndrome	KEGG:H00800
Marfan syndrome	PMID:15235604
pancreatic cancer	PMID:11866987
pancreatic cancer	PMID:18772397
colon cancer	PMID:14988818
Arteriosclerosis	PMID:16733295
pancreatic ductal carcinoma	PMID:10547197
Vasculogenic impotence	PMID:14718046
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881