Reviewed,
UniProtKB/Swiss-Prot P37173 (TGFR2_HUMAN)
Last modified
November 3, 2009.
Version 122.
History...
Clusters with 100%,
90%,
50% identity |
Documents (7) |
Third-party data |
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Names and origin
| Protein names | Recommended name: TGF-beta receptor type-2 EC=2.7.11.30 Alternative name(s): Transforming growth factor-beta receptor type II Short name=TGF-beta receptor type II TGF-beta type II receptor TbetaR-II TGFR-2 | ||
| Gene names |
| ||
| Organism | Homo sapiens (Human) [Complete proteome] | ||
| Taxonomic identifier | 9606 [NCBI] | ||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 567 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for TGF-beta. |
| Catalytic activity | ATP + [receptor-protein] = ADP + [receptor-protein] phosphate. |
| Cofactor | Magnesium or manganese By similarity. |
| Subunit structure | |
| Subcellular location | |
| Post-translational modification | Phosphorylated on a Ser/Thr residue in the cytoplasmic domain. Ref.10 Ref.12 |
| Involvement in disease | Defects in TGFBR2 are the cause of hereditary non-polyposis colorectal cancer type 6 (HNPCC6) [MIM:190182]. Mutations in more than one gene locus can be involved alone or in combination in the production of the HNPCC phenotype (also called Lynch syndrome). Most families with clinically recognized HNPCC have mutations in either MLH1 or MSH2 genes. HNPCC is an autosomal, dominantly inherited disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early onset colorectal carcinoma (CRC) and extra-colonic cancers 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, and accounts for 15% of all colon cancers. Cancers in HNPCC originate within benign neoplastic polyps termed adenomas. Clinically, HNPCC is often divided into two subgroups. Type I: hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II: patients have an 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. HNPCC6 is a type of colorectal cancer complying with the clinical criteria of HNPCC, except that the onset of cancer was beyond 50 years of age in all cases. Ref.16 Defects in TGFBR2 are a cause of esophageal cancer [MIM:133239]. Ref.17 Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 1B (LDS1B) [MIM:610168]. LDS1 is an aortic aneurysm syndrome with widespread systemic involvement. The disorder is characterized by arterial tortuosity and aneurysms, craniosynostosis, hypertelorism, and bifid uvula or cleft palate. Other findings include exotropy, micrognathia and retrognathia, structural brain abnormalities, intellectual deficit, congenital heart disease, translucent skin, joint hyperlaxity and aneurysm with dissection throughout the arterial tree. Ref.22 Defects in TGFBR2 are the cause of Loeys-Dietz syndrome type 2B (LDS2B) [MIM:610380]; formerly Marfan syndrome type 2. LDS2 is an aortic aneurysm syndrome with widespread systemic involvement. 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, diffuse arterial aneurysms and dissections, and catastrophic complications of pregnancy, including rupture of the gravid uterus and the arteries, either during pregnancy or in the immediate postpartum period. LDS2 is characterized by the absence of craniofacial abnormalities with the exception of bifid uvula that can be present in some patients. Defects in TGFBR2 are the cause of aortic aneurysm familial thoracic type 3 (AAT3) [MIM:610380]. Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. AAT3 is an autosomal dominant disorder with reduced penetrance and variable expression. Ref.21 |
| Sequence similarities | Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily. Contains 1 protein kinase domain. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| DAXX | Q9UER7 | 1 | EBI-296151,EBI-77321 | |
| Daxx | O35613 | 1 | EBI-296151,EBI-77304 | From a different organism. |
| TGFB1 | P07200 | 1 | EBI-296151,EBI-907660 | From a different organism. |
| TGFB3 | P10600 | 1 | EBI-296151,EBI-1033020 |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: P37173-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: P37173-2) The sequence of this isoform differs from the canonical sequence as follows: 31-32: SV → SDVEMEAQKDEIICPSCNRTAHPLRHI |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 22 | 22 | Ref.8 | |||||||||||||||||||||||||||||
| Chain | 23 – 567 | 545 | TGF-beta receptor type-2 | PRO_0000024426 | ||||||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||||||
| Topological domain | 23 – 166 | 144 | Extracellular Potential | |||||||||||||||||||||||||||||
| Transmembrane | 167 – 187 | 21 | Potential | |||||||||||||||||||||||||||||
| Topological domain | 188 – 567 | 380 | Cytoplasmic Potential | |||||||||||||||||||||||||||||
| Domain | 244 – 544 | 301 | Protein kinase | |||||||||||||||||||||||||||||
| Nucleotide binding | 250 – 258 | 9 | ATP By similarity | |||||||||||||||||||||||||||||
Sites | ||||||||||||||||||||||||||||||||
| Active site | 379 | 1 | Proton acceptor By similarity | |||||||||||||||||||||||||||||
| Binding site | 277 | 1 | ATP By similarity | |||||||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||||||
| Modified residue | 548 | 1 | Phosphoserine Ref.10 Ref.12 | |||||||||||||||||||||||||||||
| Glycosylation | 70 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||||||||
| Glycosylation | 94 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||||||||
| Glycosylation | 154 | 1 | N-linked (GlcNAc...) Potential | |||||||||||||||||||||||||||||
| Disulfide bond | 51 ↔ 84 | |||||||||||||||||||||||||||||||
| Disulfide bond | 54 ↔ 71 | |||||||||||||||||||||||||||||||
| Disulfide bond | 61 ↔ 67 | |||||||||||||||||||||||||||||||
| Disulfide bond | 77 ↔ 101 | |||||||||||||||||||||||||||||||
| Disulfide bond | 121 ↔ 136 | |||||||||||||||||||||||||||||||
| Disulfide bond | 138 ↔ 143 | |||||||||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||||||
| Alternative sequence | 31 – 32 | 2 | SV → SDVEMEAQKDEIICPSCNRT AHPLRHI in isoform 2. | VSP_012157 | ||||||||||||||||||||||||||||
| Natural variant | 36 | 1 | M → V: dbSNP rs17025864. Ref.7 | VAR_020510 | ||||||||||||||||||||||||||||
| Natural variant | 61 | 1 | C → R in a gastric adenocarcinoma sample; somatic mutation. Ref.24 | VAR_041414 | ||||||||||||||||||||||||||||
| Natural variant | 73 | 1 | I → V in a colorectal cancer sample; somatic mutation. Ref.23 | VAR_036070 | ||||||||||||||||||||||||||||
| Natural variant | 191 | 1 | V → I: dbSNP rs56105708. Ref.24 Ref.19 | VAR_017606 | ||||||||||||||||||||||||||||
| Natural variant | 308 | 1 | L → P in LDS2B; has a negative effect on TGF-beta signaling. dbSNP rs28934568. Ref.20 | VAR_022351 | ||||||||||||||||||||||||||||
| Natural variant | 315 | 1 | T → M in HNPCC6. dbSNP rs34833812. Ref.16 Ref.24 | VAR_008156 | ||||||||||||||||||||||||||||
| Natural variant | 328 | 1 | H → Y in a lung neuroendocrine carcinoma sample; somatic mutation. Ref.24 | VAR_041415 | ||||||||||||||||||||||||||||
| Natural variant | 336 | 1 | Y → N in LDS1B. Ref.22 | VAR_022352 | ||||||||||||||||||||||||||||
| Natural variant | 355 | 1 | A → P in LDS1B. Ref.22 | VAR_022353 | ||||||||||||||||||||||||||||
| Natural variant | 357 | 1 | G → W in LDS1B. Ref.22 | VAR_022354 | ||||||||||||||||||||||||||||
| Natural variant | 373 | 1 | M → I: dbSNP rs35719192. Ref.24 | VAR_041416 | ||||||||||||||||||||||||||||
| Natural variant | 387 | 1 | V → M in a breast tumor. dbSNP rs35766612. Ref.24 Ref.18 | VAR_022355 | ||||||||||||||||||||||||||||
| Natural variant | 435 | 1 | N → S in a breast tumor; signaling of TGF-beta significantly inhibited. Ref.18 | VAR_022356 | ||||||||||||||||||||||||||||
| Natural variant | 439 | 1 | V → A: dbSNP rs1050833. Ref.1 Ref.4 Ref.5 Ref.6 | VAR_028063 | ||||||||||||||||||||||||||||
| Natural variant | 447 | 1 | V → A in a breast tumor; signaling of TGF-beta significantly inhibited. Ref.18 | VAR_022357 | ||||||||||||||||||||||||||||
| Natural variant | 449 | 1 | S → F in LDS2B; has a negative effect on TGF-beta signaling. Ref.20 | VAR_022358 | ||||||||||||||||||||||||||||
| Natural variant | 452 | 1 | L → M in a breast tumor; signaling of TGF-beta significantly inhibited. Ref.18 | VAR_022359 | ||||||||||||||||||||||||||||
| Natural variant | 460 | 1 | R → C in AAT3. Ref.21 | VAR_029760 | ||||||||||||||||||||||||||||
| Natural variant | 460 | 1 | R → H in AAT3. Ref.21 | VAR_029761 | ||||||||||||||||||||||||||||
| Natural variant | 490 | 1 | N → S in a gastric adenocarcinoma sample; somatic mutation. Ref.24 | VAR_041417 | ||||||||||||||||||||||||||||
| Natural variant | 526 | 1 | E → Q in esophageal cancer. Ref.17 | VAR_015816 | ||||||||||||||||||||||||||||
| Natural variant | 528 | 1 | R → C in LDS1B. Ref.22 | VAR_022360 | ||||||||||||||||||||||||||||
| Natural variant | 528 | 1 | R → H in LDS1B. Ref.22 Ref.23 | VAR_022361 | ||||||||||||||||||||||||||||
| Natural variant | 537 | 1 | R → C in LDS2B; has a negative effect on TGF-beta signaling. Ref.20 | VAR_022362 | ||||||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||||||
| Mutagenesis | 277 | 1 | K → R: Abolishes kinase activity, TGF-beta signaling and interaction with DAXX. Ref.9 | |||||||||||||||||||||||||||||
| Sequence conflict | 381 | 1 | K → N in BAA09332. Ref.6 | |||||||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||||||
| Beta strand | 50 – 52 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 55 – 58 | 4 | ||||||||||||||||||||||||||||||
| Beta strand | 65 – 68 | 4 | ||||||||||||||||||||||||||||||
| Beta strand | 74 – 76 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 83 – 90 | 8 | ||||||||||||||||||||||||||||||
| Beta strand | 95 – 102 | 8 | ||||||||||||||||||||||||||||||
| Turn | 114 – 117 | 4 | ||||||||||||||||||||||||||||||
| Beta strand | 119 – 122 | 4 | ||||||||||||||||||||||||||||||
| Beta strand | 124 – 126 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 131 – 138 | 8 | ||||||||||||||||||||||||||||||
| Helix | 143 – 145 | 3 | ||||||||||||||||||||||||||||||
| Beta strand | 146 – 148 | 3 | ||||||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase." Lin H.Y., Wang X.-F., Ng-Eaton E., Weinberg R.A., Lodish H.F. Cell 68:775-785(1992) [PubMed: 1310899] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-439. Tissue: Liver. |
| [2] | Erratum Lin H.Y., Wang X.-F., Ng-Eaton E., Weinberg R.A., Lodish H.F. Cell 70:1069-1069(1992) [PubMed: 1525823] [Abstract] |
| [3] | "A cDNA encoding the human transforming growth factor beta receptor suppresses the growth defect of a yeast mutant." Nikawa J. Gene 149:367-372(1994) [PubMed: 7959019] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Glial cell. |
| [4] | "The genomic structure of the gene encoding the human transforming growth factor beta type II receptor (TGF-beta RII)." Takenoshita S., Hagiwara K., Nagashima M., Gemma A., Bennett W.P., Harris C.C. Genomics 36:341-344(1996) [PubMed: 8812462] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT ALA-439. |
| [5] | "Genomic structure of the transforming growth factor beta type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers." Lu S.-L., Zhang W.C., Akiyama Y., Nomizu T., Yuasa Y. Cancer Res. 56:4595-4598(1996) [PubMed: 8840968] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT ALA-439. |
| [6] | "Cloning of a cDNA encoding the human transforming growth factor-beta type II receptor: heterogeneity of the mRNA." Ogasa H., Noma T., Murata H., Kawai S., Nakazawa A. Gene 181:185-190(1996) [PubMed: 8973329] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-439. Tissue: Liver. |
| [7] | NIEHS SNPs program Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-36. |
| [8] | "Signal peptide prediction based on analysis of experimentally verified cleavage sites." Zhang Z., Henzel W.J. Protein Sci. 13:2819-2824(2004) [PubMed: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 23-37. |
| [9] | "TGF-beta-induced apoptosis is mediated by the adapter protein Daxx that facilitates JNK activation." Perlman R., Schiemann W.P., Brooks M.W., Lodish H.F., Weinberg R.A. Nat. Cell Biol. 3:708-714(2001) [PubMed: 11483955] [Abstract] Cited for: INTERACTION WITH DAXX, MUTAGENESIS OF LYS-277. |
| [10] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-548, MASS SPECTROMETRY. Tissue: Epithelium. |
| [11] | "Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors." Meng Q.-J., Lux A., Holloschi A., Li J., Hughes J.M.X., Foerg T., McCarthy J.E.G., Heagerty A.M., Kioschis P., Hafner M., Garland J.M. J. Biol. Chem. 281:37069-37080(2006) [PubMed: 16982625] [Abstract] Cited for: INTERACTION WITH TCTEX1D4. |
| [12] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-548, MASS SPECTROMETRY. |
| [13] | "Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex." Hart P.J., Deep S., Taylor A.B., Shu Z., Hinck C.S., Hinck A.P. Nat. Struct. Biol. 9:203-208(2002) [PubMed: 11850637] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.15 ANGSTROMS) OF 38-159 IN COMPLEX WITH TGF-BETA3. |
| [14] | "The 1.1 A crystal structure of human TGF-beta type II receptor ligand binding domain." Boesen C.C., Radaev S., Motyka S.A., Patamawenu A., Sun P.D. Structure 10:913-919(2002) [PubMed: 12121646] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (1.05 ANGSTROMS) OF 49-159. |
| [15] | "Solution structure and backbone dynamics of the TGFbeta type II receptor extracellular domain." Deep S., Walker K.P. III, Shu Z., Hinck A.P. Biochemistry 42:10126-10139(2003) [PubMed: 12939140] [Abstract] Cited for: STRUCTURE BY NMR OF 38-159. |
| [16] | "HNPCC associated with germline mutation in the TGF-beta type II receptor gene." Lu S.-L., Kawabata M., Imamura T., Akiyama Y., Nomizu T., Miyazono K., Yuasa Y. Nat. Genet. 19:17-18(1998) [PubMed: 9590282] [Abstract] Cited for: VARIANT HNPCC6 MET-315. |
| [17] | "A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma." Tanaka S., Mori M., Mafune K., Ohno S., Sugimachi K. Br. J. Cancer 82:1557-1560(2000) [PubMed: 10789724] [Abstract] Cited for: VARIANT ESOPHAGEAL CANCER GLN-526. |
| [18] | "Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer." Luecke C.D., Philpott A., Metcalfe J.C., Thompson A.M., Hughes-Davies L., Kemp P.R., Hesketh R. Cancer Res. 61:482-485(2001) [PubMed: 11212236] [Abstract] Cited for: VARIANTS BREAST TUMOR MET-387; SER-435; ALA-447 AND MET-452, CHARACTERIZATION OF VARIANTS BREAST TUMOR SER-435; ALA-447 AND MET-452. |
| [19] | "A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway." Watanabe Y., Kinoshita A., Yamada T., Ohta T., Kishino T., Matsumoto N., Ishikawa M., Niikawa N., Yoshiura K. J. Hum. Genet. 47:478-483(2002) [PubMed: 12202987] [Abstract] Cited for: VARIANT ILE-191. |
| [20] | "Heterozygous TGFBR2 mutations in Marfan syndrome." Mizuguchi T., Collod-Beroud G., Akiyama T., Abifadel M., Harada N., Morisaki T., Allard D., Varret M., Claustres M., Morisaki H., Ihara M., Kinoshita A., Yoshiura K., Junien C., Kajii T., Jondeau G., Ohta T., Kishino T. Matsumoto N.Nat. Genet. 36:855-860(2004) [PubMed: 15235604] [Abstract] Cited for: VARIANTS LDS2B PRO-308; PHE-449 AND CYS-537, CHARACTERIZATION OF VARIANTS LDS2B PRO-308; PHE-449 AND CYS-537. |
| [21] | "Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections." Pannu H., Fadulu V.T., Chang J., Lafont A., Hasham S.N., Sparks E., Giampietro P.F., Zaleski C., Estrera A.L., Safi H.J., Shete S., Willing M.C., Raman C.S., Milewicz D.M. Circulation 112:513-520(2005) [PubMed: 16027248] [Abstract] Cited for: VARIANTS AAT3 CYS-460 AND HIS-460. |
| [22] | "A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2." Loeys B.L., Chen J., Neptune E.R., Judge D.P., Podowski M., Holm T., Meyers J., Leitch C.C., Katsanis N., Sharifi N., Xu F.L., Myers L.A., Spevak P.J., Cameron D.E., De Backer J.F., Hellemans J., Chen Y., Davis E.C. Dietz H.C.Nat. Genet. 37:275-281(2005) [PubMed: 15731757] [Abstract] Cited for: VARIANTS LDS1B ASN-336; PRO-355; TRP-357; HIS-528 AND CYS-528. |
| [23] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-73 AND HIS-528. |
| [24] | "Patterns of somatic mutation in human cancer genomes." Greenman C., Stephens P., Smith R., Dalgliesh G.L., Hunter C., Bignell G., Davies H., Teague J., Butler A., Stevens C., Edkins S., O'Meara S., Vastrik I., Schmidt E.E., Avis T., Barthorpe S., Bhamra G., Buck G. Stratton M.R.Nature 446:153-158(2007) [PubMed: 17344846] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-61; ILE-191; MET-315; TYR-328; ILE-373; MET-387 AND SER-490. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M85079 mRNA. Translation: AAA61164.1. D28131 mRNA. Translation: BAA05673.1. U52246 U52245 Genomic DNA. Translation: AAB17553.1. U69152 U69151 Genomic DNA. Translation: AAB40916.1. D50683 mRNA. Translation: BAA09332.1. AY675319 Genomic DNA. Translation: AAT70724.1. | |||||||||||||||||||||||||||||||
| IPI | IPI00020431. IPI00164934. | ||||||||||||||||||||||||||||||
| PIR | A42100. | ||||||||||||||||||||||||||||||
| RefSeq | NP_001020018.1. NP_003233.4. | ||||||||||||||||||||||||||||||
| UniGene | Hs.604277 Hs.82028 | ||||||||||||||||||||||||||||||
3D structure databases | |||||||||||||||||||||||||||||||
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| ModBase | Search... | ||||||||||||||||||||||||||||||
Protein-protein interaction databases | |||||||||||||||||||||||||||||||
| DIP | DIP:5939N. | ||||||||||||||||||||||||||||||
| IntAct | P37173. 5 interactions. | ||||||||||||||||||||||||||||||
| STRING | P37173. | ||||||||||||||||||||||||||||||
PTM databases | |||||||||||||||||||||||||||||||
| PhosphoSite | P37173. | ||||||||||||||||||||||||||||||
Proteomic databases | |||||||||||||||||||||||||||||||
| PRIDE | P37173. | ||||||||||||||||||||||||||||||
Genome annotation databases | |||||||||||||||||||||||||||||||
| Ensembl | ENST00000295754; ENSP00000295754; ENSG00000163513; Homo sapiens. [Genome view] ENST00000359013; ENSP00000351905; ENSG00000163513; Homo sapiens. [Genome view] ENST00000383765; ENSP00000373275; ENSG00000163513; Homo sapiens. [Genome view] ENST00000427981; ENSP00000400898; ENSG00000163513; Homo sapiens. [Genome view] ENST00000439925; ENSP00000392572; ENSG00000163513; Homo sapiens. [Genome view] | ||||||||||||||||||||||||||||||
| GeneID | 7048. | ||||||||||||||||||||||||||||||
| KEGG | hsa:7048. | ||||||||||||||||||||||||||||||
| NMPDR | fig|9606.3.peg.22244. | ||||||||||||||||||||||||||||||
| UCSC | uc003cen.1. human. uc003ceo.1. human. | ||||||||||||||||||||||||||||||
Organism-specific databases | |||||||||||||||||||||||||||||||
| CTD | 7048. | ||||||||||||||||||||||||||||||
| GeneCards | GC03P030623. | ||||||||||||||||||||||||||||||
| H-InvDB | HIX0024332. | ||||||||||||||||||||||||||||||
| HGNC | HGNC:11773. TGFBR2. | ||||||||||||||||||||||||||||||
| MIM | 133239. phenotype. 190182. gene+phenotype. 610168. phenotype. 610380. phenotype. | ||||||||||||||||||||||||||||||
| Orphanet | 60030. Aortic aneurysm syndrome, Loeys-Dietz type. 144. Colon cancer, familial nonpolyposis. 558. Marfan syndrome. 91387. Thoracic aortic aneurysm, familial form. | ||||||||||||||||||||||||||||||
| PharmGKB | PA36486. | ||||||||||||||||||||||||||||||
| GenAtlas | Search... | ||||||||||||||||||||||||||||||
Phylogenomic databases | |||||||||||||||||||||||||||||||
| HOVERGEN | P37173. | ||||||||||||||||||||||||||||||
| OMA | MVTDNNG. | ||||||||||||||||||||||||||||||
Enzyme and pathway databases | |||||||||||||||||||||||||||||||
| BRENDA | 2.7.10.2. 247. 2.7.11.30. 247. | ||||||||||||||||||||||||||||||
| Pathway_Interaction_DB | glypican_1pathway. Glypican 1 network. avb3_integrin_pathway. Integrins in angiogenesis. tgfbrpathway. TGF-beta receptor signaling. | ||||||||||||||||||||||||||||||
| Reactome | REACT_6844. Signaling by TGF beta. | ||||||||||||||||||||||||||||||
Gene expression databases | |||||||||||||||||||||||||||||||
| ArrayExpress | P37173. | ||||||||||||||||||||||||||||||
| Bgee | P37173. | ||||||||||||||||||||||||||||||
| CleanEx | HS_TGFBR2. | ||||||||||||||||||||||||||||||
| Genevestigator | P37173. | ||||||||||||||||||||||||||||||
| GermOnline | ENSG00000163513. Homo sapiens. | ||||||||||||||||||||||||||||||
Family and domain databases | |||||||||||||||||||||||||||||||
| InterPro | IPR000333. Activin_II_recpt. IPR000719. Prot_kinase_core. IPR017441. Protein_kinase_ATP_BS. IPR017442. Se/Thr_pkinase-rel. IPR008271. Ser_thr_pkin_AS. IPR015769. TGF-beta-2_rcpt_C. IPR017194. Transform_growth_fac-b_typ-2. IPR015013. Transforming_GF_b_rcpt_2_ecto. [Graphical view] | ||||||||||||||||||||||||||||||
| PANTHER | PTHR23255:SF11. TGF-beta_II_C. 1 hit. | ||||||||||||||||||||||||||||||
| Pfam | PF08917. ecTbetaR2. 1 hit. PF00069. Pkinase. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| PIRSF | PIRSF037393. TGFRII. 1 hit. | ||||||||||||||||||||||||||||||
| PRINTS | PR00653. ACTIVIN2R. | ||||||||||||||||||||||||||||||
| ProDom | PD000001. Prot_kinase. 1 hit. [Graphical view] [Entries sharing at least one domain] | ||||||||||||||||||||||||||||||
| PROSITE | PS00107. PROTEIN_KINASE_ATP. 1 hit. PS50011. PROTEIN_KINASE_DOM. 1 hit. PS00108. PROTEIN_KINASE_ST. 1 hit. [Graphical view] | ||||||||||||||||||||||||||||||
| ProtoNet | Search... | ||||||||||||||||||||||||||||||
Other Resources | |||||||||||||||||||||||||||||||
| NextBio | 27541. | ||||||||||||||||||||||||||||||
| SOURCE | Search... | ||||||||||||||||||||||||||||||
Entry information
| Entry name | TGFR2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P37173 Secondary accession number(s): Q15580, Q6DKT6, Q99474 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 3 Human chromosome 3: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| Human and mouse protein kinases Human and mouse protein kinases: classification and index |
| SIMILARITY comments Index of protein domains and families |

Clusters with


