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UniProtKB - P37173 (TGFR2_HUMAN)

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Protein

TGF-beta receptor type-2

Gene

TGFBR2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

Mg2+By similarity, Mn2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei277ATPPROSITE-ProRule annotation1
Active sitei379Proton acceptorPROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi250 – 258ATPPROSITE-ProRule annotation9

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • glycosaminoglycan binding Source: BHF-UCL
  • metal ion binding Source: UniProtKB-KW
  • mitogen-activated protein kinase kinase kinase binding Source: Ensembl
  • SMAD binding Source: BHF-UCL
  • transforming growth factor beta-activated receptor activity Source: BHF-UCL
  • transforming growth factor beta binding Source: BHF-UCL
  • transforming growth factor beta receptor activity, type II Source: Ensembl
  • transmembrane receptor protein serine/threonine kinase activity Source: BHF-UCL
  • type III transforming growth factor beta receptor binding Source: BHF-UCL
  • type I transforming growth factor beta receptor binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionKinase, Receptor, Serine/threonine-protein kinase, Transferase
Biological processApoptosis, Differentiation, Growth regulation
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi2.7.10.2 2681
ReactomeiR-HSA-2173788 Downregulation of TGF-beta receptor signaling
R-HSA-2173789 TGF-beta receptor signaling activates SMADs
R-HSA-2173791 TGF-beta receptor signaling in EMT (epithelial to mesenchymal transition)
R-HSA-3304356 SMAD2/3 Phosphorylation Motif Mutants in Cancer
R-HSA-3315487 SMAD2/3 MH2 Domain Mutants in Cancer
R-HSA-3642279 TGFBR2 MSI Frameshift Mutants in Cancer
R-HSA-3645790 TGFBR2 Kinase Domain Mutants in Cancer
R-HSA-3656532 TGFBR1 KD Mutants in Cancer
R-HSA-3656535 TGFBR1 LBD Mutants in Cancer
R-HSA-5689603 UCH proteinases
SignaLinkiP37173
SIGNORiP37173

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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000163513.17
HGNCiHGNC:11773 TGFBR2
MIMi190182 gene
neXtProtiNX_P37173

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini23 – 166ExtracellularSequence analysisAdd BLAST144
Transmembranei167 – 187HelicalSequence analysisAdd BLAST21
Topological domaini188 – 567CytoplasmicSequence analysisAdd BLAST380

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hereditary non-polyposis colorectal cancer 6 (HNPCC6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:614331
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008156315T → M in HNPCC6. 2 PublicationsCorresponds to variant dbSNP:rs34833812EnsemblClinVar.1
Esophageal cancer (ESCR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:133239
Loeys-Dietz syndrome 2 (LDS2)10 Publications
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
Disease descriptionAn 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.
See also OMIM:610168
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076167190R → H in LDS2. 1 PublicationCorresponds to variant dbSNP:rs780542125Ensembl.1
Natural variantiVAR_076168247D → V in LDS2. 1 PublicationCorresponds to variant dbSNP:rs761231369Ensembl.1
Natural variantiVAR_066723306Q → HE in LDS2. 1 Publication1
Natural variantiVAR_022351308L → P in LDS2; has a negative effect on TGF-beta signaling. 2 PublicationsCorresponds to variant dbSNP:rs28934568EnsemblClinVar.1
Natural variantiVAR_076169325T → P in LDS2. 1 Publication1
Natural variantiVAR_022352336Y → N in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893812EnsemblClinVar.1
Natural variantiVAR_022353355A → P in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893813EnsemblClinVar.1
Natural variantiVAR_076170357G → R in LDS2. 1 Publication1
Natural variantiVAR_022354357G → W in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893814EnsemblClinVar.1
Natural variantiVAR_066724377H → R in LDS2. 1 Publication1
Natural variantiVAR_066725446D → N in LDS2. 1 PublicationCorresponds to variant dbSNP:rs886039551EnsemblClinVar.1
Natural variantiVAR_022358449S → F in LDS2; has a negative effect on TGF-beta signaling. 2 PublicationsCorresponds to variant dbSNP:rs104893807EnsemblClinVar.1
Natural variantiVAR_066726457M → K in LDS2. 1 Publication1
Natural variantiVAR_029760460R → C in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893811EnsemblClinVar.1
Natural variantiVAR_029761460R → H in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893816EnsemblClinVar.1
Natural variantiVAR_066727509G → V in LDS2. 1 PublicationCorresponds to variant dbSNP:rs863223853EnsemblClinVar.1
Natural variantiVAR_066728510I → F in LDS2. 1 Publication1
Natural variantiVAR_066729510I → S in LDS2. 1 Publication1
Natural variantiVAR_066730514C → R in LDS2. 1 PublicationCorresponds to variant dbSNP:rs193922664EnsemblClinVar.1
Natural variantiVAR_066731521W → R in LDS2. 1 Publication1
Natural variantiVAR_022360528R → C in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893810EnsemblClinVar.1
Natural variantiVAR_022361528R → H in LDS2. 2 PublicationsCorresponds to variant dbSNP:rs104893815EnsemblClinVar.1
Natural variantiVAR_076171530T → I in LDS2. 1 Publication1
Natural variantiVAR_022362537R → C in LDS2; has a negative effect on TGF-beta signaling. 1 PublicationCorresponds to variant dbSNP:rs104893809EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi277K → R: Abolishes kinase activity, TGF-beta signaling and interaction with DAXX. 1 Publication1

Keywords - Diseasei

Aortic aneurysm, Disease mutation, Hereditary nonpolyposis colorectal cancer

Organism-specific databases

DisGeNETi7048
GeneReviewsiTGFBR2
MalaCardsiTGFBR2
MIMi133239 phenotype
610168 phenotype
614331 phenotype
OpenTargetsiENSG00000163513
Orphaneti91387 Familial thoracic aortic aneurysm and aortic dissection
144 Hereditary nonpolyposis colon cancer
60030 Loeys-Dietz syndrome
284973 Marfan syndrome type 2
PharmGKBiPA36486

Chemistry databases

ChEMBLiCHEMBL4267
DrugBankiDB04077 Glycerol
GuidetoPHARMACOLOGYi1795

Polymorphism and mutation databases

BioMutaiTGFBR2
DMDMi116242818

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 221 PublicationAdd BLAST22
ChainiPRO_000002442623 – 567TGF-beta receptor type-2Add BLAST545

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi51 ↔ 845 Publications
Disulfide bondi54 ↔ 715 Publications
Disulfide bondi61 ↔ 675 Publications
Glycosylationi70N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi77 ↔ 1015 Publications
Glycosylationi94N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi121 ↔ 1365 Publications
Disulfide bondi138 ↔ 1435 Publications
Glycosylationi154N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei409PhosphoserineBy similarity1
Modified residuei548PhosphoserineCombined sources1
Modified residuei553PhosphoserineBy similarity1

Post-translational modificationi

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

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP37173
MaxQBiP37173
PaxDbiP37173
PeptideAtlasiP37173
PRIDEiP37173
ProteomicsDBi55264
55265 [P37173-2]

PTM databases

iPTMnetiP37173
PhosphoSitePlusiP37173

Expressioni

Gene expression databases

BgeeiENSG00000163513
CleanExiHS_TGFBR2
ExpressionAtlasiP37173 baseline and differential
GenevisibleiP37173 HS

Organism-specific databases

HPAiCAB073537

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

Show more details

GO - Molecular functioni

  • mitogen-activated protein kinase kinase kinase binding Source: Ensembl
  • SMAD binding Source: BHF-UCL
  • transforming growth factor beta binding Source: BHF-UCL
  • type III transforming growth factor beta receptor binding Source: BHF-UCL
  • type I transforming growth factor beta receptor binding Source: BHF-UCL
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112906, 87 interactors
ComplexPortaliCPX-2544 TGF-beta-3-TGFR complex
CPX-529 TGF-beta-1-TGFR complex
CPX-834 TGF-beta-2-TGFR complex
CORUMiP37173
DIPiDIP-5939N
IntActiP37173, 29 interactors
MINTiP37173
STRINGi9606.ENSP00000351905

Chemistry databases

BindingDBiP37173

Structurei

Secondary structure

1567
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi40 – 45Combined sources6
Beta strandi50 – 52Combined sources3
Beta strandi55 – 58Combined sources4
Beta strandi65 – 68Combined sources4
Beta strandi74 – 76Combined sources3
Beta strandi78 – 81Combined sources4
Beta strandi83 – 90Combined sources8
Beta strandi95 – 102Combined sources8
Beta strandi104 – 106Combined sources3
Beta strandi108 – 110Combined sources3
Turni114 – 117Combined sources4
Beta strandi119 – 122Combined sources4
Beta strandi124 – 126Combined sources3
Beta strandi131 – 138Combined sources8
Beta strandi140 – 142Combined sources3
Helixi143 – 145Combined sources3
Beta strandi146 – 148Combined sources3
Beta strandi149 – 154Combined sources6
Beta strandi244 – 252Combined sources9
Beta strandi257 – 263Combined sources7
Beta strandi273 – 280Combined sources8
Helixi281 – 283Combined sources3
Helixi284 – 294Combined sources11
Helixi297 – 299Combined sources3
Beta strandi307 – 314Combined sources8
Beta strandi316 – 326Combined sources11
Helixi333 – 339Combined sources7
Helixi344 – 362Combined sources19
Helixi382 – 384Combined sources3
Beta strandi385 – 387Combined sources3
Beta strandi393 – 395Combined sources3
Turni410 – 414Combined sources5
Helixi422 – 424Combined sources3
Helixi427 – 430Combined sources4
Helixi439 – 459Combined sources21
Helixi462 – 464Combined sources3
Turni473 – 477Combined sources5
Helixi484 – 491Combined sources8
Turni492 – 494Combined sources3
Helixi502 – 506Combined sources5
Helixi508 – 520Combined sources13
Helixi525 – 527Combined sources3
Helixi531 – 540Combined sources10

3D structure databases

ProteinModelPortaliP37173
SMRiP37173
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP37173

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini244 – 544Protein kinasePROSITE-ProRule annotationAdd BLAST301

Sequence similaritiesi

Belongs to the protein kinase superfamily. TKL Ser/Thr protein kinase family. TGFB receptor subfamily.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3653 Eukaryota
ENOG410XS2Z LUCA
GeneTreeiENSGT00760000118876
HOGENOMiHOG000231495
HOVERGENiHBG104975
InParanoidiP37173
KOiK04388
OMAiNDMMVTD
PhylomeDBiP37173
TreeFamiTF314724

Family and domain databases

InterProiView protein in InterPro
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR008271 Ser/Thr_kinase_AS
IPR000333 TGFB_receptor
IPR017194 Transform_growth_fac-b_typ-2
IPR015013 Transforming_GF_b_rcpt_2_ecto
PANTHERiPTHR23255 PTHR23255, 1 hit
PfamiView protein in Pfam
PF08917 ecTbetaR2, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PIRSFiPIRSF037393 TGFRII, 1 hit
PRINTSiPR00653 ACTIVIN2R
SMARTiView protein in SMART
SM00220 S_TKc, 1 hit
SUPFAMiSSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00107 PROTEIN_KINASE_ATP, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
PS00108 PROTEIN_KINASE_ST, 1 hit

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. AlignAdd to basket

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

        10         20         30         40         50
MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SVNNDMIVTD NNGAVKFPQL 
        60         70         80         90        100
CKFCDVRFST CDNQKSCMSN CSITSICEKP QEVCVAVWRK NDENITLETV 
       110        120        130        140        150
CHDPKLPYHD FILEDAASPK CIMKEKKKPG ETFFMCSCSS DECNDNIIFS 
       160        170        180        190        200
EEYNTSNPDL LLVIFQVTGI SLLPPLGVAI SVIIIFYCYR VNRQQKLSST 
       210        220        230        240        250
WETGKTRKLM EFSEHCAIIL EDDRSDISST CANNINHNTE LLPIELDTLV 
       260        270        280        290        300
GKGRFAEVYK AKLKQNTSEQ FETVAVKIFP YEEYASWKTE KDIFSDINLK 
       310        320        330        340        350
HENILQFLTA EERKTELGKQ YWLITAFHAK GNLQEYLTRH VISWEDLRKL 
       360        370        380        390        400
GSSLARGIAH LHSDHTPCGR PKMPIVHRDL KSSNILVKND LTCCLCDFGL 
       410        420        430        440        450
SLRLDPTLSV DDLANSGQVG TARYMAPEVL ESRMNLENVE SFKQTDVYSM 
       460        470        480        490        500
ALVLWEMTSR CNAVGEVKDY EPPFGSKVRE HPCVESMKDN VLRDRGRPEI 
       510        520        530        540        550
PSFWLNHQGI QMVCETLTEC WDHDPEARLT AQCVAERFSE LEHLDRLSGR 
       560 
SCSEEKIPED GSLNTTK
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)DescriptionActionsGraphical viewLength
Sequence conflicti381K → N in BAA09332 (PubMed:8973329).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02051036M → V1 PublicationCorresponds to variant dbSNP:rs17025864EnsemblClinVar.1
Natural variantiVAR_04141461C → R in a gastric adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_03607073I → V in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_076167190R → H in LDS2. 1 PublicationCorresponds to variant dbSNP:rs780542125Ensembl.1
Natural variantiVAR_017606191V → I2 PublicationsCorresponds to variant dbSNP:rs56105708EnsemblClinVar.1
Natural variantiVAR_076168247D → V in LDS2. 1 PublicationCorresponds to variant dbSNP:rs761231369Ensembl.1
Natural variantiVAR_066723306Q → HE in LDS2. 1 Publication1
Natural variantiVAR_022351308L → P in LDS2; has a negative effect on TGF-beta signaling. 2 PublicationsCorresponds to variant dbSNP:rs28934568EnsemblClinVar.1
Natural variantiVAR_008156315T → M in HNPCC6. 2 PublicationsCorresponds to variant dbSNP:rs34833812EnsemblClinVar.1
Natural variantiVAR_076169325T → P in LDS2. 1 Publication1
Natural variantiVAR_041415328H → Y in a lung neuroendocrine carcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_022352336Y → N in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893812EnsemblClinVar.1
Natural variantiVAR_022353355A → P in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893813EnsemblClinVar.1
Natural variantiVAR_076170357G → R in LDS2. 1 Publication1
Natural variantiVAR_022354357G → W in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893814EnsemblClinVar.1
Natural variantiVAR_041416373M → I1 PublicationCorresponds to variant dbSNP:rs35719192EnsemblClinVar.1
Natural variantiVAR_066724377H → R in LDS2. 1 Publication1
Natural variantiVAR_022355387V → M in a breast tumor. 2 PublicationsCorresponds to variant dbSNP:rs35766612EnsemblClinVar.1
Natural variantiVAR_022356435N → S in a breast tumor; signaling of TGF-beta significantly inhibited. 1 Publication1
Natural variantiVAR_028063439V → A4 PublicationsCorresponds to variant dbSNP:rs1050833Ensembl.1
Natural variantiVAR_066725446D → N in LDS2. 1 PublicationCorresponds to variant dbSNP:rs886039551EnsemblClinVar.1
Natural variantiVAR_022357447V → A in a breast tumor; signaling of TGF-beta significantly inhibited. 1 Publication1
Natural variantiVAR_022358449S → F in LDS2; has a negative effect on TGF-beta signaling. 2 PublicationsCorresponds to variant dbSNP:rs104893807EnsemblClinVar.1
Natural variantiVAR_022359452L → M in a breast tumor; signaling of TGF-beta significantly inhibited. 1 Publication1
Natural variantiVAR_066726457M → K in LDS2. 1 Publication1
Natural variantiVAR_029760460R → C in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893811EnsemblClinVar.1
Natural variantiVAR_029761460R → H in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893816EnsemblClinVar.1
Natural variantiVAR_041417490N → S in a gastric adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_066727509G → V in LDS2. 1 PublicationCorresponds to variant dbSNP:rs863223853EnsemblClinVar.1
Natural variantiVAR_066728510I → F in LDS2. 1 Publication1
Natural variantiVAR_066729510I → S in LDS2. 1 Publication1
Natural variantiVAR_066730514C → R in LDS2. 1 PublicationCorresponds to variant dbSNP:rs193922664EnsemblClinVar.1
Natural variantiVAR_066731521W → R in LDS2. 1 Publication1
Natural variantiVAR_015816526E → Q in esophageal cancer. 1 PublicationCorresponds to variant dbSNP:rs121918714EnsemblClinVar.1
Natural variantiVAR_022360528R → C in LDS2. 1 PublicationCorresponds to variant dbSNP:rs104893810EnsemblClinVar.1
Natural variantiVAR_022361528R → H in LDS2. 2 PublicationsCorresponds to variant dbSNP:rs104893815EnsemblClinVar.1
Natural variantiVAR_076171530T → I in LDS2. 1 Publication1
Natural variantiVAR_022362537R → C in LDS2; has a negative effect on TGF-beta signaling. 1 PublicationCorresponds to variant dbSNP:rs104893809EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01215731 – 32SV → SDVEMEAQKDEIICPSCNRT AHPLRHI in isoform 2. 2 Publications2

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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
UCSCiuc003cen.4 human [P37173-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiTGFR2_HUMAN
AccessioniPrimary (citable) accession number: P37173
Secondary accession number(s): B4DTV5
, Q15580, Q6DKT6, Q99474
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1994
Last sequence update: October 17, 2006
Last modified: July 18, 2018
This is version 217 of the entry and version 2 of the sequence. See 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

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