TGFBR2
entrez
7048
canonical
uniprot
P37173
canonical
ensembl
ENSG00000163513
resolver
ensp
ENSP00000295754
resolver
ensp
ENSP00000351905
resolver
ensp
ENSP00000519656
resolver
ensp
ENSP00000519657
resolver
ensp
ENSP00000564783
resolver
ensp
ENSP00000611847
resolver
enst
ENST00000714389
resolver
enst
ENST00000714390
resolver
genesymbol
TGFBR2
resolver
hgnc
HGNC:11773
resolver
uniprot
A0AAQ5BI06
resolver
uniprot
A3QNQ0
resolver
uniprot
B4DTV5
resolver
uniprot
Q15580
resolver
uniprot
Q6DKT6
resolver
uniprot
Q99474
resolver
uniprot_entry
A0AAQ5BI06_HUMAN
resolver
uniprot_entry
A3QNQ0_HUMAN
resolver
uniprot_entry
TGFR2_HUMAN
resolver
uniprot_sec
B4DTV5
resolver
uniprot_sec
Q15580
resolver
uniprot_sec
Q6DKT6
resolver
uniprot_sec
Q99474
resolver
amino_acid_sequence
MGRGLLRGLWPLHIVLWTRIASTIPPHVQKSVNNDMIVTDNNGAVKFPQLCKFCDVRFSTCDNQKSCMSNCSITSICEKPQEVCVAVWRKNDENITLETVCHDPKLPYHDFILEDAASPKCIMKEKKKPGETFFMCSCSSDECNDNIIFSEEYNTSNPDLLLVIFQVTGISLLPPLGVAISVIIIFYCYRVNRQQKLSSTWETGKTRKLMEFSEHCAIILEDDRSDISSTCANNINHNTELLPIELDTLVGKGRFAEVYKAKLKQNTSEQFETVAVKIFPYEEYASWKTEKDIFSDINLKHENILQFLTAEERKTELGKQYWLITAFHAKGNLQEYLTRHVISWEDLRKLGSSLARGIAHLHSDHTPCGRPKMPIVHRDLKSSNILVKNDLTCCLCDFGLSLRLDPTLSVDDLANSGQVGTARYMAPEVLESRMNLENVESFKQTDVYSMALVLWEMTSRCNAVGEVKDYEPPFGSKVREHPCVESMKDNVLRDRGRPEIPSFWLNHQGIQMVCETLTECWDHDPEARLTAQCVAERFSELEHLDRLSGRSCSEEKIPEDGSLNTTK
uniprot
proteins
disease_involvement
DISEASE: Hereditary non-polyposis colorectal cancer 6 (HNPCC6) [MIM:614331]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. {ECO:0000269|PubMed:9590282}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269|PubMed:10789724}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Loeys-Dietz syndrome 2 (LDS2) [MIM:610168]: An aortic aneurysm syndrome with widespread systemic involvement, characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Physical findings include prominent joint laxity, easy bruising, wide and atrophic scars, velvety and translucent skin with easily visible veins, spontaneous rupture of the spleen or bowel, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. Some patients have craniosynostosis, exotropy, micrognathia and retrognathia, structural brain abnormalities, and intellectual deficit. {ECO:0000269|PubMed:15235604, ECO:0000269|PubMed:15731757, ECO:0000269|PubMed:16027248, ECO:0000269|PubMed:16251899, ECO:0000269|PubMed:19533785, ECO:0000269|PubMed:19883511, ECO:0000269|PubMed:20101701, ECO:0000269|PubMed:20358619, ECO:0000269|PubMed:21949523, ECO:0000269|PubMed:22113417}. Note=The disease is caused by variants affecting the gene represented in this entry. TGFBR2 mutations Cys-460 and His-460 have been reported to be associated with thoracic aortic aneurysms and dissection (TAAD). This phenotype, also known as thoracic aortic aneurysms type 3 (AAT3), is distinguised from LDS2 by having aneurysms restricted to thoracic aorta. As individuals carrying these mutations also exhibit descending aortic disease and aneurysms of other arteries (PubMed:16027248), they have been considered as LDS2 by the OMIM resource. {ECO:0000269|PubMed:16027248}.
uniprot
proteins
ec_number
2.7.11.30
uniprot
proteins
function
FUNCTION: Transmembrane serine/threonine kinase forming with the TGF-beta type I serine/threonine kinase receptor, TGFBR1, the non-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2 and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from the cell surface to the cytoplasm and thus regulates a plethora of physiological and pathological processes including cell cycle arrest in epithelial and hematopoietic cells, control of mesenchymal cell proliferation and differentiation, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. The formation of the receptor complex composed of 2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to the cytokine dimer results in the phosphorylation and activation of TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1 phosphorylates SMAD2 which dissociates from the receptor and interacts with SMAD4. The SMAD2-SMAD4 complex is subsequently translocated to the nucleus where it modulates the transcription of the TGF-beta-regulated genes. This constitutes the canonical SMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. {ECO:0000269|PubMed:7774578}.; FUNCTION: [Isoform 1]: Has transforming growth factor beta-activated receptor activity. {ECO:0000269|PubMed:8635485}.; FUNCTION: [Isoform 2]: Has transforming growth factor beta-activated receptor activity. {ECO:0000269|PubMed:8635485}.; FUNCTION: [Isoform 3]: Binds TGFB1, TGFB2 and TGFB3 in the picomolar affinity range without the participation of additional receptors. Blocks activation of SMAD2 and SMAD3 by TGFB1. {ECO:0000269|PubMed:34568316}.
uniprot
proteins
mass_dalton
64568
uniprot
proteins
mutagenesis
MUTAGEN 277; /note="K->R: Abolishes kinase activity, TGF-beta signaling and interaction with DAXX."; /evidence="ECO:0000269|PubMed:11483955
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on a Ser/Thr residue in the cytoplasmic domain.
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
TGFB receptor subfamily
uniprot
proteins
protein_family
TKL Ser/Thr protein kinase family
uniprot
proteins
pubmed
10789724
uniprot
proteins
pubmed
11212236
uniprot
proteins
pubmed
11483955
uniprot
proteins
pubmed
11850637
uniprot
proteins
pubmed
12121646
uniprot
proteins
pubmed
12202987
uniprot
proteins
pubmed
12939140
uniprot
proteins
pubmed
12941698
uniprot
proteins
pubmed
1310899
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15235604
uniprot
proteins
pubmed
1525823
uniprot
proteins
pubmed
15340161
uniprot
proteins
pubmed
15731757
uniprot
proteins
pubmed
16027248
uniprot
proteins
pubmed
16251899
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
16982625
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18243111
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19533785
uniprot
proteins
pubmed
19883511
uniprot
proteins
pubmed
20101701
uniprot
proteins
pubmed
20207738
uniprot
proteins
pubmed
20358619
uniprot
proteins
pubmed
21441952
uniprot
proteins
pubmed
21791611
uniprot
proteins
pubmed
21949523
uniprot
proteins
pubmed
22113417
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25893292
uniprot
proteins
pubmed
34568316
uniprot
proteins
pubmed
7774578
uniprot
proteins
pubmed
7959019
uniprot
proteins
pubmed
8555189
uniprot
proteins
pubmed
8635485
uniprot
proteins
pubmed
8812462
uniprot
proteins
pubmed
8840968
uniprot
proteins
pubmed
8973329
uniprot
proteins
pubmed
9472030
uniprot
proteins
pubmed
9590282
uniprot
proteins
pubmed
9865696
uniprot
proteins
sequence_length
567
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1310899, ECO:0000269|PubMed:25893292}; Single-pass type I membrane protein {ECO:0000269|PubMed:1310899}. Membrane raft {ECO:0000269|PubMed:25893292}.; SUBCELLULAR LOCATION: [Isoform 3]: Secreted {ECO:0000269|PubMed:34568316}.
uniprot
proteins
transmembrane_region
TRANSMEM 167..187; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins