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P37173

- TGFR2_HUMAN

UniProt

P37173 - TGFR2_HUMAN

Protein

TGF-beta receptor type-2

Gene

TGFBR2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 176 (01 Oct 2014)
      Sequence version 2 (17 Oct 2006)
      Previous versions | rss
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    Functioni

    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 is thus regulating 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 the activation of TGFRB1 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.1 Publication

    Catalytic activityi

    ATP + [receptor-protein] = ADP + [receptor-protein] phosphate.

    Cofactori

    Magnesium or manganese.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Binding sitei277 – 2771ATPPROSITE-ProRule annotation
    Active sitei379 – 3791Proton acceptorPROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi250 – 2589ATPPROSITE-ProRule annotation

    GO - Molecular functioni

    1. ATP binding Source: UniProtKB-KW
    2. glycosaminoglycan binding Source: BHF-UCL
    3. metal ion binding Source: UniProtKB-KW
    4. protein binding Source: BHF-UCL
    5. receptor signaling protein serine/threonine kinase activity Source: InterPro
    6. SMAD binding Source: BHF-UCL
    7. transforming growth factor beta-activated receptor activity Source: BHF-UCL
    8. transforming growth factor beta binding Source: BHF-UCL
    9. transforming growth factor beta receptor activity, type II Source: InterPro
    10. transmembrane receptor protein serine/threonine kinase activity Source: BHF-UCL
    11. type III transforming growth factor beta receptor binding Source: BHF-UCL
    12. type I transforming growth factor beta receptor binding Source: BHF-UCL

    GO - Biological processi

    1. activation of protein kinase activity Source: BHF-UCL
    2. aging Source: Ensembl
    3. apoptotic process Source: UniProtKB
    4. blood vessel development Source: BHF-UCL
    5. brain development Source: BHF-UCL
    6. bronchus morphogenesis Source: Ensembl
    7. cartilage development Source: Ensembl
    8. common-partner SMAD protein phosphorylation Source: Ensembl
    9. digestive tract development Source: Ensembl
    10. embryo implantation Source: Ensembl
    11. embryonic cranial skeleton morphogenesis Source: BHF-UCL
    12. embryonic hemopoiesis Source: BHF-UCL
    13. gastrulation Source: Ensembl
    14. heart development Source: BHF-UCL
    15. in utero embryonic development Source: Ensembl
    16. lens development in camera-type eye Source: Ensembl
    17. lens fiber cell apoptotic process Source: Ensembl
    18. lung lobe morphogenesis Source: Ensembl
    19. mammary gland morphogenesis Source: Ensembl
    20. myeloid dendritic cell differentiation Source: BHF-UCL
    21. negative regulation of cardiac muscle cell proliferation Source: Ensembl
    22. negative regulation of transforming growth factor beta receptor signaling pathway Source: Reactome
    23. organ regeneration Source: Ensembl
    24. palate development Source: BHF-UCL
    25. pathway-restricted SMAD protein phosphorylation Source: BHF-UCL
    26. patterning of blood vessels Source: BHF-UCL
    27. peptidyl-serine phosphorylation Source: BHF-UCL
    28. peptidyl-threonine phosphorylation Source: BHF-UCL
    29. positive regulation of B cell tolerance induction Source: BHF-UCL
    30. positive regulation of cell proliferation Source: ProtInc
    31. positive regulation of epithelial cell migration Source: Ensembl
    32. positive regulation of mesenchymal cell proliferation Source: BHF-UCL
    33. positive regulation of NK T cell differentiation Source: BHF-UCL
    34. positive regulation of reactive oxygen species metabolic process Source: BHF-UCL
    35. positive regulation of skeletal muscle tissue regeneration Source: Ensembl
    36. positive regulation of smooth muscle cell proliferation Source: Ensembl
    37. positive regulation of T cell tolerance induction Source: BHF-UCL
    38. positive regulation of tolerance induction to self antigen Source: BHF-UCL
    39. protein phosphorylation Source: BHF-UCL
    40. receptor-mediated endocytosis Source: Ensembl
    41. regulation of cell proliferation Source: BHF-UCL
    42. response to cholesterol Source: BHF-UCL
    43. response to drug Source: BHF-UCL
    44. response to estrogen Source: Ensembl
    45. response to glucose Source: Ensembl
    46. response to mechanical stimulus Source: Ensembl
    47. response to nutrient Source: Ensembl
    48. smoothened signaling pathway Source: Ensembl
    49. trachea formation Source: Ensembl
    50. transforming growth factor beta receptor signaling pathway Source: BHF-UCL
    51. vasculogenesis Source: BHF-UCL
    52. wound healing Source: Ensembl

    Keywords - Molecular functioni

    Kinase, Receptor, Serine/threonine-protein kinase, Transferase

    Keywords - Biological processi

    Apoptosis, Differentiation, Growth regulation

    Keywords - Ligandi

    ATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

    Enzyme and pathway databases

    BRENDAi2.7.10.2. 2681.
    ReactomeiREACT_120726. TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition).
    REACT_120727. Downregulation of TGF-beta receptor signaling.
    REACT_120850. TGF-beta receptor signaling activates SMADs.
    REACT_169103. SMAD2/3 Phosphorylation Motif Mutants in Cancer.
    REACT_169165. SMAD2/3 MH2 Domain Mutants in Cancer.
    REACT_169263. TGFBR1 KD Mutants in Cancer.
    REACT_169440. TGFBR2 Kinase Domain Mutants in Cancer.
    REACT_169445. TGFBR1 LBD Mutants in Cancer.
    SignaLinkiP37173.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    TGF-beta receptor type-2 (EC:2.7.11.30)
    Short name:
    TGFR-2
    Alternative name(s):
    TGF-beta type II receptor
    Transforming growth factor-beta receptor type II
    Short name:
    TGF-beta receptor type II
    Short name:
    TbetaR-II
    Gene namesi
    Name:TGFBR2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 3

    Organism-specific databases

    HGNCiHGNC:11773. TGFBR2.

    Subcellular locationi

    Cell membrane 1 Publication; Single-pass type I membrane protein 1 Publication

    GO - Cellular componenti

    1. caveola Source: BHF-UCL
    2. cytosol Source: Reactome
    3. external side of plasma membrane Source: BHF-UCL
    4. integral component of membrane Source: BHF-UCL
    5. plasma membrane Source: Reactome
    6. receptor complex Source: BHF-UCL
    7. transforming growth factor beta receptor homodimeric complex Source: BHF-UCL

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti315 – 3151T → M in HNPCC6. 2 Publications
    Corresponds to variant rs34833812 [ dbSNP | Ensembl ].
    VAR_008156
    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    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.9 Publications
    Note: The disease is caused by mutations 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.1 Publication
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti306 – 3061Q → HE in LDS2. 1 Publication
    VAR_066723
    Natural varianti308 – 3081L → P in LDS2; has a negative effect on TGF-beta signaling. 2 Publications
    Corresponds to variant rs28934568 [ dbSNP | Ensembl ].
    VAR_022351
    Natural varianti336 – 3361Y → N in LDS2. 1 Publication
    VAR_022352
    Natural varianti355 – 3551A → P in LDS2. 1 Publication
    VAR_022353
    Natural varianti357 – 3571G → W in LDS2. 1 Publication
    VAR_022354
    Natural varianti377 – 3771H → R in LDS2. 1 Publication
    VAR_066724
    Natural varianti446 – 4461D → N in LDS2. 1 Publication
    VAR_066725
    Natural varianti449 – 4491S → F in LDS2; has a negative effect on TGF-beta signaling. 2 Publications
    VAR_022358
    Natural varianti457 – 4571M → K in LDS2. 1 Publication
    VAR_066726
    Natural varianti460 – 4601R → C in LDS2. 1 Publication
    VAR_029760
    Natural varianti460 – 4601R → H in LDS2. 1 Publication
    VAR_029761
    Natural varianti509 – 5091G → V in LDS2. 1 Publication
    VAR_066727
    Natural varianti510 – 5101I → F in LDS2. 1 Publication
    VAR_066728
    Natural varianti510 – 5101I → S in LDS2. 1 Publication
    VAR_066729
    Natural varianti514 – 5141C → R in LDS2. 1 Publication
    VAR_066730
    Natural varianti521 – 5211W → R in LDS2. 1 Publication
    VAR_066731
    Natural varianti528 – 5281R → C in LDS2. 1 Publication
    VAR_022360
    Natural varianti528 – 5281R → H in LDS2. 2 Publications
    VAR_022361
    Natural varianti537 – 5371R → C in LDS2; has a negative effect on TGF-beta signaling. 1 Publication
    Corresponds to variant rs28934869 [ dbSNP | Ensembl ].
    VAR_022362

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi277 – 2771K → R: Abolishes kinase activity, TGF-beta signaling and interaction with DAXX. 1 Publication

    Keywords - Diseasei

    Aortic aneurysm, Disease mutation, Hereditary nonpolyposis colorectal cancer

    Organism-specific databases

    MIMi133239. phenotype.
    610168. phenotype.
    614331. phenotype.
    Orphaneti91387. Familial thoracic aortic aneurysm and aortic dissection.
    144. Hereditary nonpolyposis colon cancer.
    60030. Loeys-Dietz syndrome.
    284973. Marfan syndrome type 2.
    PharmGKBiPA36486.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 22221 PublicationAdd
    BLAST
    Chaini23 – 567545TGF-beta receptor type-2PRO_0000024426Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi51 ↔ 84
    Disulfide bondi54 ↔ 71
    Disulfide bondi61 ↔ 67
    Glycosylationi70 – 701N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi77 ↔ 101
    Glycosylationi94 – 941N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi121 ↔ 136
    Disulfide bondi138 ↔ 143
    Glycosylationi154 – 1541N-linked (GlcNAc...)Sequence Analysis
    Modified residuei548 – 5481Phosphoserine1 Publication
    Modified residuei553 – 5531PhosphoserineBy similarity

    Post-translational modificationi

    Phosphorylated on a Ser/Thr residue in the cytoplasmic domain.1 Publication

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP37173.
    PaxDbiP37173.
    PRIDEiP37173.

    PTM databases

    PhosphoSiteiP37173.

    Expressioni

    Gene expression databases

    ArrayExpressiP37173.
    BgeeiP37173.
    CleanExiHS_TGFBR2.
    GenevestigatoriP37173.

    Interactioni

    Subunit structurei

    Homodimer. Heterohexamer; TGFB1, TGFB2 and TGFB3 homodimeric ligands assemble a functional receptor composed of two TGFBR1 and TGFBR2 heterodimers to form a ligand-receptor heterohexamer. The respective affinity of TGFRB1 and TGFRB2 for the ligands may modulate the kinetics of assembly of the receptor and may explain the different biological activities of TGFB1, TGFB2 and TGFB3. Interacts with DAXX. Interacts with TCTEX1D4. Interacts with ZFYVE9; ZFYVE9 recruits SMAD2 and SMAD3 to the TGF-beta receptor. Interacts with and is activated by SCUBE3; this interaction does not affect TGFB1-binding to TGFBR2. Interacts with VPS39; this interaction is independent of the receptor kinase activity and of the presence of TGF-beta.8 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    DAXXQ9UER72EBI-296151,EBI-77321
    MED12Q930743EBI-296151,EBI-394357
    Med12A2AGH63EBI-296151,EBI-5744969From a different organism.
    SCUBE3Q8IX306EBI-296151,EBI-4479975
    TGFB1P011376EBI-296151,EBI-779636
    TGFB1P072002EBI-296151,EBI-907660From a different organism.
    TGFB3P106008EBI-296151,EBI-1033020

    Protein-protein interaction databases

    BioGridi112906. 45 interactions.
    DIPiDIP-5939N.
    IntActiP37173. 17 interactions.
    MINTiMINT-206666.
    STRINGi9606.ENSP00000351905.

    Structurei

    Secondary structure

    1
    567
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi40 – 456
    Beta strandi50 – 523
    Beta strandi55 – 584
    Beta strandi65 – 684
    Beta strandi74 – 763
    Beta strandi78 – 814
    Beta strandi83 – 908
    Beta strandi95 – 1028
    Beta strandi106 – 1105
    Turni114 – 1174
    Beta strandi119 – 1224
    Beta strandi124 – 1263
    Beta strandi131 – 1388
    Beta strandi140 – 1423
    Helixi143 – 1453
    Beta strandi146 – 1483
    Beta strandi149 – 1546

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1KTZX-ray2.15B38-159[»]
    1M9ZX-ray1.05A49-159[»]
    1PLONMR-A38-159[»]
    2PJYX-ray3.00B42-149[»]
    3KFDX-ray3.00E/F/G/H38-153[»]
    ProteinModelPortaliP37173.
    SMRiP37173. Positions 48-153, 244-539.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP37173.

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini23 – 166144ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini188 – 567380CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei167 – 18721HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini244 – 544301Protein kinasePROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 1 protein kinase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG0515.
    HOGENOMiHOG000231495.
    HOVERGENiHBG104975.
    KOiK04388.
    OMAiWETSKPR.
    OrthoDBiEOG7JHM5B.
    PhylomeDBiP37173.
    TreeFamiTF314724.

    Family and domain databases

    InterProiIPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR008271. Ser/Thr_kinase_AS.
    IPR000333. TGFB_receptor.
    IPR017194. Transform_growth_fac-b_typ-2.
    IPR015013. Transforming_GF_b_rcpt_2_ecto.
    [Graphical view]
    PANTHERiPTHR23255. PTHR23255. 1 hit.
    PfamiPF08917. ecTbetaR2. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037393. TGFRII. 1 hit.
    PRINTSiPR00653. ACTIVIN2R.
    SUPFAMiSSF56112. SSF56112. 1 hit.
    PROSITEiPS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P37173-1) [UniParc]FASTAAdd to Basket

    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.

    « Hide

    MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SVNNDMIVTD NNGAVKFPQL    50
    CKFCDVRFST CDNQKSCMSN CSITSICEKP QEVCVAVWRK NDENITLETV 100
    CHDPKLPYHD FILEDAASPK CIMKEKKKPG ETFFMCSCSS DECNDNIIFS 150
    EEYNTSNPDL LLVIFQVTGI SLLPPLGVAI SVIIIFYCYR VNRQQKLSST 200
    WETGKTRKLM EFSEHCAIIL EDDRSDISST CANNINHNTE LLPIELDTLV 250
    GKGRFAEVYK AKLKQNTSEQ FETVAVKIFP YEEYASWKTE KDIFSDINLK 300
    HENILQFLTA EERKTELGKQ YWLITAFHAK GNLQEYLTRH VISWEDLRKL 350
    GSSLARGIAH LHSDHTPCGR PKMPIVHRDL KSSNILVKND LTCCLCDFGL 400
    SLRLDPTLSV DDLANSGQVG TARYMAPEVL ESRMNLENVE SFKQTDVYSM 450
    ALVLWEMTSR CNAVGEVKDY EPPFGSKVRE HPCVESMKDN VLRDRGRPEI 500
    PSFWLNHQGI QMVCETLTEC WDHDPEARLT AQCVAERFSE LEHLDRLSGR 550
    SCSEEKIPED GSLNTTK 567
    Length:567
    Mass (Da):64,568
    Last modified:October 17, 2006 - v2
    Checksum:iC541DA751FFBDBEB
    GO
    Isoform 2 (identifier: P37173-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         31-32: SV → SDVEMEAQKDEIICPSCNRTAHPLRHI

    Show »
    Length:592
    Mass (Da):67,457
    Checksum:i8ADCBA70F95E1CBB
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti381 – 3811K → N in BAA09332. (PubMed:8973329)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti36 – 361M → V.1 Publication
    Corresponds to variant rs17025864 [ dbSNP | Ensembl ].
    VAR_020510
    Natural varianti61 – 611C → R in a gastric adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_041414
    Natural varianti73 – 731I → V in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_036070
    Natural varianti191 – 1911V → I.2 Publications
    Corresponds to variant rs56105708 [ dbSNP | Ensembl ].
    VAR_017606
    Natural varianti306 – 3061Q → HE in LDS2. 1 Publication
    VAR_066723
    Natural varianti308 – 3081L → P in LDS2; has a negative effect on TGF-beta signaling. 2 Publications
    Corresponds to variant rs28934568 [ dbSNP | Ensembl ].
    VAR_022351
    Natural varianti315 – 3151T → M in HNPCC6. 2 Publications
    Corresponds to variant rs34833812 [ dbSNP | Ensembl ].
    VAR_008156
    Natural varianti328 – 3281H → Y in a lung neuroendocrine carcinoma sample; somatic mutation. 1 Publication
    VAR_041415
    Natural varianti336 – 3361Y → N in LDS2. 1 Publication
    VAR_022352
    Natural varianti355 – 3551A → P in LDS2. 1 Publication
    VAR_022353
    Natural varianti357 – 3571G → W in LDS2. 1 Publication
    VAR_022354
    Natural varianti373 – 3731M → I.1 Publication
    Corresponds to variant rs35719192 [ dbSNP | Ensembl ].
    VAR_041416
    Natural varianti377 – 3771H → R in LDS2. 1 Publication
    VAR_066724
    Natural varianti387 – 3871V → M in a breast tumor. 2 Publications
    Corresponds to variant rs35766612 [ dbSNP | Ensembl ].
    VAR_022355
    Natural varianti435 – 4351N → S in a breast tumor; signaling of TGF-beta significantly inhibited. 1 Publication
    VAR_022356
    Natural varianti439 – 4391V → A.4 Publications
    Corresponds to variant rs1050833 [ dbSNP | Ensembl ].
    VAR_028063
    Natural varianti446 – 4461D → N in LDS2. 1 Publication
    VAR_066725
    Natural varianti447 – 4471V → A in a breast tumor; signaling of TGF-beta significantly inhibited. 1 Publication
    VAR_022357
    Natural varianti449 – 4491S → F in LDS2; has a negative effect on TGF-beta signaling. 2 Publications
    VAR_022358
    Natural varianti452 – 4521L → M in a breast tumor; signaling of TGF-beta significantly inhibited. 1 Publication
    VAR_022359
    Natural varianti457 – 4571M → K in LDS2. 1 Publication
    VAR_066726
    Natural varianti460 – 4601R → C in LDS2. 1 Publication
    VAR_029760
    Natural varianti460 – 4601R → H in LDS2. 1 Publication
    VAR_029761
    Natural varianti490 – 4901N → S in a gastric adenocarcinoma sample; somatic mutation. 1 Publication
    VAR_041417
    Natural varianti509 – 5091G → V in LDS2. 1 Publication
    VAR_066727
    Natural varianti510 – 5101I → F in LDS2. 1 Publication
    VAR_066728
    Natural varianti510 – 5101I → S in LDS2. 1 Publication
    VAR_066729
    Natural varianti514 – 5141C → R in LDS2. 1 Publication
    VAR_066730
    Natural varianti521 – 5211W → R in LDS2. 1 Publication
    VAR_066731
    Natural varianti526 – 5261E → Q in esophageal cancer. 1 Publication
    VAR_015816
    Natural varianti528 – 5281R → C in LDS2. 1 Publication
    VAR_022360
    Natural varianti528 – 5281R → H in LDS2. 2 Publications
    VAR_022361
    Natural varianti537 – 5371R → C in LDS2; has a negative effect on TGF-beta signaling. 1 Publication
    Corresponds to variant rs28934869 [ dbSNP | Ensembl ].
    VAR_022362

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei31 – 322SV → SDVEMEAQKDEIICPSCNRT AHPLRHI in isoform 2. 2 PublicationsVSP_012157

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M85079 mRNA. Translation: AAA61164.1.
    D28131 mRNA. Translation: BAA05673.1.
    U52246
    , U52240, U52241, U52242, U52244, U52245 Genomic DNA. Translation: AAB17553.1.
    U69152
    , U69146, U69147, U69148, U69149, U69150, U69151 Genomic DNA. Translation: AAB40916.1.
    D50683 mRNA. Translation: BAA09332.1.
    AY675319 Genomic DNA. Translation: AAT70724.1.
    AK300383 mRNA. Translation: BAG62117.1.
    CH471055 Genomic DNA. Translation: EAW64412.1.
    CCDSiCCDS2648.1. [P37173-1]
    CCDS33727.1. [P37173-2]
    PIRiA42100.
    RefSeqiNP_001020018.1. NM_001024847.2. [P37173-2]
    NP_003233.4. NM_003242.5. [P37173-1]
    UniGeneiHs.604277.
    Hs.82028.

    Genome annotation databases

    EnsembliENST00000295754; ENSP00000295754; ENSG00000163513. [P37173-1]
    ENST00000359013; ENSP00000351905; ENSG00000163513. [P37173-2]
    GeneIDi7048.
    KEGGihsa:7048.
    UCSCiuc003ceo.3. human. [P37173-1]

    Polymorphism databases

    DMDMi116242818.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M85079 mRNA. Translation: AAA61164.1 .
    D28131 mRNA. Translation: BAA05673.1 .
    U52246
    , U52240 , U52241 , U52242 , U52244 , U52245 Genomic DNA. Translation: AAB17553.1 .
    U69152
    , U69146 , U69147 , U69148 , U69149 , U69150 , U69151 Genomic DNA. Translation: AAB40916.1 .
    D50683 mRNA. Translation: BAA09332.1 .
    AY675319 Genomic DNA. Translation: AAT70724.1 .
    AK300383 mRNA. Translation: BAG62117.1 .
    CH471055 Genomic DNA. Translation: EAW64412.1 .
    CCDSi CCDS2648.1. [P37173-1 ]
    CCDS33727.1. [P37173-2 ]
    PIRi A42100.
    RefSeqi NP_001020018.1. NM_001024847.2. [P37173-2 ]
    NP_003233.4. NM_003242.5. [P37173-1 ]
    UniGenei Hs.604277.
    Hs.82028.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1KTZ X-ray 2.15 B 38-159 [» ]
    1M9Z X-ray 1.05 A 49-159 [» ]
    1PLO NMR - A 38-159 [» ]
    2PJY X-ray 3.00 B 42-149 [» ]
    3KFD X-ray 3.00 E/F/G/H 38-153 [» ]
    ProteinModelPortali P37173.
    SMRi P37173. Positions 48-153, 244-539.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112906. 45 interactions.
    DIPi DIP-5939N.
    IntActi P37173. 17 interactions.
    MINTi MINT-206666.
    STRINGi 9606.ENSP00000351905.

    Chemistry

    BindingDBi P37173.
    ChEMBLi CHEMBL4267.
    GuidetoPHARMACOLOGYi 1795.

    PTM databases

    PhosphoSitei P37173.

    Polymorphism databases

    DMDMi 116242818.

    Proteomic databases

    MaxQBi P37173.
    PaxDbi P37173.
    PRIDEi P37173.

    Protocols and materials databases

    DNASUi 7048.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000295754 ; ENSP00000295754 ; ENSG00000163513 . [P37173-1 ]
    ENST00000359013 ; ENSP00000351905 ; ENSG00000163513 . [P37173-2 ]
    GeneIDi 7048.
    KEGGi hsa:7048.
    UCSCi uc003ceo.3. human. [P37173-1 ]

    Organism-specific databases

    CTDi 7048.
    GeneCardsi GC03P030623.
    GeneReviewsi TGFBR2.
    H-InvDB HIX0024332.
    HGNCi HGNC:11773. TGFBR2.
    MIMi 133239. phenotype.
    190182. gene.
    610168. phenotype.
    614331. phenotype.
    neXtProti NX_P37173.
    Orphaneti 91387. Familial thoracic aortic aneurysm and aortic dissection.
    144. Hereditary nonpolyposis colon cancer.
    60030. Loeys-Dietz syndrome.
    284973. Marfan syndrome type 2.
    PharmGKBi PA36486.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0515.
    HOGENOMi HOG000231495.
    HOVERGENi HBG104975.
    KOi K04388.
    OMAi WETSKPR.
    OrthoDBi EOG7JHM5B.
    PhylomeDBi P37173.
    TreeFami TF314724.

    Enzyme and pathway databases

    BRENDAi 2.7.10.2. 2681.
    Reactomei REACT_120726. TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition).
    REACT_120727. Downregulation of TGF-beta receptor signaling.
    REACT_120850. TGF-beta receptor signaling activates SMADs.
    REACT_169103. SMAD2/3 Phosphorylation Motif Mutants in Cancer.
    REACT_169165. SMAD2/3 MH2 Domain Mutants in Cancer.
    REACT_169263. TGFBR1 KD Mutants in Cancer.
    REACT_169440. TGFBR2 Kinase Domain Mutants in Cancer.
    REACT_169445. TGFBR1 LBD Mutants in Cancer.
    SignaLinki P37173.

    Miscellaneous databases

    ChiTaRSi TGFBR2. human.
    EvolutionaryTracei P37173.
    GeneWikii TGF_beta_receptor_2.
    GenomeRNAii 7048.
    NextBioi 27541.
    PROi P37173.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P37173.
    Bgeei P37173.
    CleanExi HS_TGFBR2.
    Genevestigatori P37173.

    Family and domain databases

    InterProi IPR011009. Kinase-like_dom.
    IPR000719. Prot_kinase_dom.
    IPR017441. Protein_kinase_ATP_BS.
    IPR008271. Ser/Thr_kinase_AS.
    IPR000333. TGFB_receptor.
    IPR017194. Transform_growth_fac-b_typ-2.
    IPR015013. Transforming_GF_b_rcpt_2_ecto.
    [Graphical view ]
    PANTHERi PTHR23255. PTHR23255. 1 hit.
    Pfami PF08917. ecTbetaR2. 1 hit.
    PF00069. Pkinase. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037393. TGFRII. 1 hit.
    PRINTSi PR00653. ACTIVIN2R.
    SUPFAMi SSF56112. SSF56112. 1 hit.
    PROSITEi PS00107. PROTEIN_KINASE_ATP. 1 hit.
    PS50011. PROTEIN_KINASE_DOM. 1 hit.
    PS00108. PROTEIN_KINASE_ST. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-439, SUBCELLULAR LOCATION.
      Tissue: Liver.
    2. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
      Tissue: Glial cell.
    3. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT ALA-439.
    4. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT ALA-439.
    5. "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] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ALA-439.
      Tissue: Liver.
    6. NIEHS SNPs program
      Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT VAL-36.
    7. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Placenta.
    8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    9. "Signal peptide prediction based on analysis of experimentally verified cleavage sites."
      Zhang Z., Henzel W.J.
      Protein Sci. 13:2819-2824(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: PROTEIN SEQUENCE OF 23-37.
    10. "GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex."
      Wieser R., Wrana J.L., Massague J.
      EMBO J. 14:2199-2208(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION IN PHOSPHORYLATION OF TGFBR1.
    11. "SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor."
      Tsukazaki T., Chiang T.A., Davison A.F., Attisano L., Wrana J.L.
      Cell 95:779-791(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH ZFYVE9.
    12. "Oligomeric structure of type I and type II transforming growth factor beta receptors: homodimers form in the ER and persist at the plasma membrane."
      Gilboa L., Wells R.G., Lodish H.F., Henis Y.I.
      J. Cell Biol. 140:767-777(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: HOMODIMERIZATION.
    13. "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] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH DAXX, MUTAGENESIS OF LYS-277.
    14. "TLP, a novel modulator of TGF-beta signaling, has opposite effects on Smad2- and Smad3-dependent signaling."
      Felici A., Wurthner J.U., Parks W.T., Giam L.R., Reiss M., Karpova T.S., McNally J.G., Roberts A.B.
      EMBO J. 22:4465-4477(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH VPS39.
    15. "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] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TCTEX1D4.
    16. "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] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-548, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    18. "SCUBE3 is an endogenous TGF-beta receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer."
      Wu Y.Y., Peck K., Chang Y.L., Pan S.H., Cheng Y.F., Lin J.C., Yang R.B., Hong T.M., Yang P.C.
      Oncogene 30:3682-3693(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH SCUBE3.
    19. "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] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.15 ANGSTROMS) OF 38-159 IN COMPLEX WITH TGF-BETA3.
    20. "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] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (1.05 ANGSTROMS) OF 49-159.
    21. "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] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 38-159.
    22. "Cooperative assembly of TGF-beta superfamily signaling complexes is mediated by two disparate mechanisms and distinct modes of receptor binding."
      Groppe J., Hinck C.S., Samavarchi-Tehrani P., Zubieta C., Schuermann J.P., Taylor A.B., Schwarz P.M., Wrana J.L., Hinck A.P.
      Mol. Cell 29:157-168(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.00 ANGSTROMS) OF 43-149 IN COMPLEX WITH TGFBR1 AND TGFB3, DISULFIDE BONDS.
    23. "Ternary complex of transforming growth factor-beta1 reveals isoform-specific ligand recognition and receptor recruitment in the superfamily."
      Radaev S., Zou Z., Huang T., Lafer E.M., Hinck A.P., Sun P.D.
      J. Biol. Chem. 285:14806-14814(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (3.00 ANGSTROMS) OF 38-153 IN COMPLEX WITH TGFBR1 AND TGFB1, RECEPTOR AFFINITY FOR LIGANDS, DISULFIDE BONDS.
    24. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT HNPCC6 MET-315.
    25. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT ESOPHAGEAL CANCER GLN-526.
    26. "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] [Europe PMC] [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.
    27. "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] [Europe PMC] [Abstract]
      Cited for: VARIANT ILE-191.
    28. Cited for: VARIANTS LDS2 PRO-308; PHE-449 AND CYS-537, CHARACTERIZATION OF VARIANTS LDS2 PRO-308; PHE-449 AND CYS-537.
    29. "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] [Europe PMC] [Abstract]
      Cited for: VARIANTS LDS2 CYS-460 AND HIS-460.
    30. Cited for: VARIANTS LDS2 ASN-336; PRO-355; TRP-357; HIS-528 AND CYS-528.
    31. Cited for: VARIANT LDS2 ASN-446.
    32. Cited for: VARIANTS [LARGE SCALE ANALYSIS] VAL-73 AND HIS-528.
    33. "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.
      , Choudhury B., Clements J., Cole J., Dicks E., Forbes S., Gray K., Halliday K., Harrison R., Hills K., Hinton J., Jenkinson A., Jones D., Menzies A., Mironenko T., Perry J., Raine K., Richardson D., Shepherd R., Small A., Tofts C., Varian J., Webb T., West S., Widaa S., Yates A., Cahill D.P., Louis D.N., Goldstraw P., Nicholson A.G., Brasseur F., Looijenga L., Weber B.L., Chiew Y.-E., DeFazio A., Greaves M.F., Green A.R., Campbell P., Birney E., Easton D.F., Chenevix-Trench G., Tan M.-H., Khoo S.K., Teh B.T., Yuen S.T., Leung S.Y., Wooster R., Futreal P.A., Stratton M.R.
      Nature 446:153-158(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-61; ILE-191; MET-315; TYR-328; ILE-373; MET-387 AND SER-490.
    34. "Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients."
      Drera B., Ritelli M., Zoppi N., Wischmeijer A., Gnoli M., Fattori R., Calzavara-Pinton P.G., Barlati S., Colombi M.
      Orphanet J. Rare Dis. 4:24-24(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT LDS2 SER-510.
    35. Cited for: VARIANT LDS2 LYS-457.
    36. "Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome."
      Kirmani S., Tebben P.J., Lteif A.N., Gordon D., Clarke B.L., Hefferan T.E., Yaszemski M.J., McGrann P.S., Lindor N.M., Ellison J.W.
      Am. J. Med. Genet. A 152:1016-1019(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LDS2 PRO-308 AND ARG-521.
    37. "Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome."
      Yang J.H., Ki C.S., Han H., Song B.G., Jang S.Y., Chung T.Y., Sung K., Lee H.J., Kim D.K.
      J. Hum. Genet. 57:52-56(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LDS2 GLN-306 DELINS HIS-GLU; ARG-377; PHE-449 AND ARG-514.
    38. "A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene."
      Ha J.S., Kim Y.H.
      Korean J. Pediatr. 54:272-275(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS LDS2 VAL-509 AND PHE-510.

    Entry informationi

    Entry nameiTGFR2_HUMAN
    AccessioniPrimary (citable) accession number: P37173
    Secondary accession number(s): B4DTV5
    , Q15580, Q6DKT6, Q99474
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 1, 1994
    Last sequence update: October 17, 2006
    Last modified: October 1, 2014
    This is version 176 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny 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.

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

    Documents

    1. Human chromosome 3
      Human chromosome 3: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. Human and mouse protein kinases
      Human and mouse protein kinases: classification and index
    7. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3