Reactome | TGFBR2 R528H [plasma membrane]

TGFBR2 R528H [plasma membrane]

Stable Identifier

R-HSA-3640894

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

TGFBR2 Arg528His

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Locations in the PathwayBrowser

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Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - Signaling by TGF-beta Receptor Complex in Cancer (Homo sapiens)
    - Loss of Function of TGFBR2 in Cancer (Homo sapiens)
      - TGFBR2 Kinase Domain Mutants in Cancer (Homo sapiens)
        
        TGFBR2 KD mutants do not phosphorylate TGFBR1 (Homo sapiens)
        
        TGFB1:TGFBR2 KD Mutants:TGFBR1 [plasma membrane] (Homo sapiens)
        
        TGFB1:TGFBR2 KD Mutant Dimers [plasma membrane] (Homo sapiens)
        
        TGFBR2 KD Mutant Dimers [plasma membrane] (Homo sapiens)
        
        TGFBR2 Kinase Domain Mutants [plasma membrane] (Homo sapiens)
        
        TGFBR2 R528H [plasma membrane] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
9927040	Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers Grady, WM, Myeroff, L, Swinler, SE, Rajput, A, Thiagalingam, S, Lutterbaugh, JD, Neumann, A, Brattain, MG, Chang, J, Kim, SJ, Kinzler, KW, Vogelstein, B, Willson, JK, Markowitz, S	Cancer Res.	1999

External Reference Information

External Reference

UniProt:P37173 TGFBR2

Gene Names

TGFBR2

Chain

signal peptide:1-22, chain:23-567

Reference Genes

BioGPS Gene:7048 TGFBR2

COSMIC (genes):TGFBR2 TGFBR2

CTD Gene:7048 TGFBR2

dbSNP Gene:7048 TGFBR2

ENSEMBL:ENSG00000163513 TGFBR2

HGNC:11773 TGFBR2

KEGG Gene (Homo sapiens):7048 TGFBR2

Monarch:7048 TGFBR2

NCBI Gene:7048 TGFBR2

OMIM:190182 TGFBR2

UCSC:P37173 TGFBR2

Reference Transcript

Other Identifiers

0005720092

11724682_s_at

11750840_s_at

16938562

1814_at

1815_g_at

207334_s_at

208944_at

2615378

2615379

2615380

2615384

2615393

2615395

2615396

2615401

2615402

2615403

2615410

2615412

2615413

2615414

2615415

2615423

7048

8078350

A_14_P126005

A_23_P211957

A_23_P337242

D50683_at

GE57247

GE578892

GO:0000003

GO:0000166

GO:0001568

GO:0001569

GO:0001570

GO:0001666

GO:0001701

GO:0001947

GO:0002053

GO:0002088

GO:0002376

GO:0002651

GO:0002663

GO:0002666

GO:0003148

GO:0003149

GO:0003151

GO:0003181

GO:0003186

GO:0003214

GO:0003274

GO:0003417

GO:0003430

GO:0003674

GO:0004672

GO:0004674

GO:0004675

GO:0005024

GO:0005026

GO:0005515

GO:0005524

GO:0005539

GO:0005575

GO:0005622

GO:0005737

GO:0005829

GO:0005886

GO:0005887

GO:0005901

GO:0006464

GO:0006468

GO:0006810

GO:0006898

GO:0006915

GO:0006950

GO:0007155

GO:0007165

GO:0007178

GO:0007179

GO:0007182

GO:0007219

GO:0007224

GO:0007369

GO:0007420

GO:0007507

GO:0007566

GO:0007568

GO:0007584

GO:0008150

GO:0008219

GO:0008283

GO:0008284

GO:0008285

GO:0009612

GO:0009749

GO:0009790

GO:0009887

GO:0009897

GO:0009986

GO:0010033

GO:0010468

GO:0010634

GO:0010718

GO:0014070

GO:0016020

GO:0016021

GO:0016192

GO:0016301

GO:0016310

GO:0016740

GO:0017002

GO:0018105

GO:0018107

GO:0019899

GO:0030154

GO:0030324

GO:0030512

GO:0031100

GO:0031435

GO:0032147

GO:0032924

GO:0032991

GO:0034713

GO:0035162

GO:0038023

GO:0040007

GO:0040008

GO:0040011

GO:0042060

GO:0042127

GO:0042493

GO:0043011

GO:0043167

GO:0043235

GO:0043415

GO:0043627

GO:0045121

GO:0045766

GO:0046332

GO:0046872

GO:0048185

GO:0048545

GO:0048565

GO:0048646

GO:0048661

GO:0048701

GO:0048856

GO:0048870

GO:0050431

GO:0051138

GO:0051216

GO:0060044

GO:0060389

GO:0060412

GO:0060425

GO:0060433

GO:0060434

GO:0060439

GO:0060440

GO:0060443

GO:0060463

GO:0062009

GO:0070723

GO:0071363

GO:1905007

GO:1905317

GO:1990086

GO:1990428

GO:2000379

GO:2000563

ILMN_1726245

ILMN_1744862

ILMN_2384241

PH_hs_0004687

TC03000149.hg

TC03002268.hg

g1827474_3p_at

g4507468_3p_a_at

Participant Of

hasMember

TGFBR2 Kinase Domain Mutants [plasma membrane]

Other forms of this molecule

TGFBR2 Y470D [plasma membrane]

TGFBR2 E526Q [plasma membrane]

TGFBR2 D522N [plasma membrane]

TGFBR2 R528C [plasma membrane]

TGFBR2 K128fs*3 [cytosol]

TGFBR2 K128fs*35 [cytosol]

NEDD8-K556,K567-TGFBR2 [plasma membrane]

TGFBR2 [plasma membrane]

Modified Residues

Name

L-arginine 528 replaced with L-histidine

Coordinate

528

PsiMod

L-histidine residue [MOD:00018]

A protein modification that effectively converts a source amino acid residue to an L-histidine.

L-arginine removal [MOD:01632]

A protein modification that effectively removes or replaces an L-arginine.

Disease

Name	Identifier	Synonyms
large intestine cancer	5672	malignant Colorectal tumor, malignant neoplasm of large intestine, NOS, malignant tumor of large intestine (disorder), malignant neoplasm of colon with rectum, malignant neoplasm of large intestine NOS
cancer	162	malignant tumor, malignant neoplasm, primary cancer

Cross References

RefSeq

NP_001020018.1, NP_003233.4

ZINC - World Drugs

TGFR2_HUMAN

OpenTargets

ENSG00000163513

ZINC - FDA approved

TGFR2_HUMAN

ZINC - Substances

TGFR2_HUMAN

ZINC target

P37173

ZINC - Biogenic

TGFR2_HUMAN

PRO

P37173

PDB

5TX4, 1PLO, 5QIN, 4XJJ, 5E92, 2PJY, 1M9Z, 5E91, 5E8Y, 5E8V, 4P7U, 1KTZ, 3KFD, 5TY4

ZINC - Investigational

TGFR2_HUMAN

COSMIC

COSM33076

HPA

ENSG00000163513-TGFBR2

GeneCards

P37173

Ensembl

ENST00000359013, ENSP00000351905, ENSG00000163513, ENSP00000295754, ENST00000295754

Orphanet

15611

ZINC - Predictions - Purchasable

TGFR2_HUMAN

HMDB Protein

HMDBP01237

Interactors (8)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P01137 TGFB1	6	TGFB1 [Golgi lumen] (R-HSA-177108) TGFB1 [extracellular region] (R-HSA-170838) TGFB1(30-390) [Golgi lumen] (R-HSA-114705) TGFB1 [plasma membrane] (R-HSA-5146781) TGFB1(30-278) [extracellular region] (R-HSA-2395367) TGFB1(30-278) [platelet alpha granule lumen] (R-HSA-65936)	0.811	6
UniProt:P10600 TGFB3	3	TGFB3(21-300) [extracellular region] (R-HSA-2395290) TGFB3 [platelet alpha granule lumen] (R-HSA-65942) TGFB3 [extracellular region] (R-HSA-114707)	0.765	8
UniProt:Q8IX30 SCUBE3	3	SCUBE3(21-?) [plasma membrane] (R-HSA-8943978) SCUBE3(?-993) [plasma membrane] (R-HSA-8943967) SCUBE3 [plasma membrane] (R-HSA-8943884)	0.632	6
UniProt:P07200 TGFB1			0.525	2
UniProt:Q93074 MED12	1	MED12 [nucleoplasm] (R-HSA-212343)	0.524	3
UniProt:A2AGH6 Med12	2	Med12 [nucleoplasm] (R-MMU-212343) Mediator of RNA polymerase II transcription subunit 12 [nucleoplasm] (R-MMU-556777)	0.524	3
UniProt:Q9UER7 DAXX	2	DAXX [nucleoplasm] (R-HSA-3222068) SUMO1-K630,K631-DAXX [nucleoplasm] (R-HSA-4086086)	0.508	2
UniProt:Q9BYF1 ACE2	5	ACE2 [endocytic vesicle membrane] (R-HSA-9698958) ACE2(18-805) [plasma membrane] (R-HSA-2022344) glycosylated-ACE2 [endocytic vesicle membrane] (R-HSA-9686721) glycosylated-ACE2 [plasma membrane] (R-HSA-9683480) ACE2 [endoplasmic reticulum lumen] (R-HSA-9683474)	0.463	2

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