Reactome | FGFR2c S252W [plasma membrane]

FGFR2c S252W [plasma membrane]

Stable Identifier

R-HSA-2011852

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

FGFR2-1 S252W mutant

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Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - Signaling by FGFR in disease (Homo sapiens)
    - Signaling by FGFR2 in disease (Homo sapiens)
      - FGFR2 mutant receptor activation (Homo sapiens)
        
        Activated point mutants of FGFR2 (Homo sapiens)
        
        Autocatalytic phosphorylation of FGFR2c mutants with enhanced ligand binding (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W [plasma membrane] (Homo sapiens)
        
        FGFR2c mutants bind an expanded range of ligands (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W [plasma membrane] (Homo sapiens)
        
        FGFR2c mutants with enhanced ligand binding [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W [plasma membrane] (Homo sapiens)
        
        Point mutants of FGFR2 bind and are inactivated by tyrosine kinase inhibitors (Homo sapiens)
        
        FGFR2 point mutant dimers [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W [plasma membrane] (Homo sapiens)
        
        FGFR2 point mutant dimers:TKIs [plasma membrane] (Homo sapiens)
        
        FGFR2 point mutant dimers [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c S252W [plasma membrane] (Homo sapiens)

General

also Apert

Literature References

PubMed ID	Title	Journal	Year
7719344	Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome Rutland, P, Pulleyn, LJ, Poole, MD, Oldridge, M, Hockley, AD, Hayward, RD, David, DJ, Wilkie, AO, Slaney, SF, Ashworth, GJ	Nat Genet	1995
14613973	Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity Eliseenkova, AV, Linhardt, RJ, Zhang, F, Mohammadi, M, Ibrahimi, OA	Hum Mol Genet	2004
18552176	Drug-sensitive FGFR2 mutations in endometrial carcinoma Akslen, LA, Cibulskis, K, Greulich, H, Dutt, A, Sellers, WR, Chen, TH, Winckler, W, Wyhs, N, Ziaugra, L, Zody, MC, Salvesen, HB, Meyerson, M, Stefansson, IM, Trovik, J, Wong, KK, Ramos, AH, Richter, DJ, Gabriel, S, Nicoletti, R, Onofrio, RC, Grewal, R, Hanna, M, Hatton, C, Engelsen, IB, Fennell, T	Proc Natl Acad Sci U S A	2008
20106510	FGFR2 mutations are rare across histologic subtypes of ovarian cancer Pollock, PM, Wellens, CL, Campbell, IG, Goodfellow, PJ, Gartside, MG, Birrer, MJ, Byron, SA	Gynecol Oncol	2010

External Reference Information

External Reference

UniProt:P21802-1 FGFR2

Gene Names

FGFR2, BEK, KGFR, KSAM

Other Identifiers

0000730167

0002470154

1143_s_at

1144_at

1145_g_at

11739249_a_at

11740159_x_at

11740394_a_at

11740395_a_at

11740409_a_at

11751508_a_at

11752116_a_at

11753370_s_at

11762105_at

11762745_x_at

11762987_x_at

1363_at

16719025

1970_s_at

203638_PM_s_at

203638_s_at

203639_PM_s_at

203639_s_at

208225_PM_at

208225_at

208228_PM_s_at

208228_s_at

208234_PM_x_at

208234_x_at

211401_PM_s_at

211401_s_at

2263

3310109

3310110

3310111

3310112

3310113

3310118

3310120

3310123

3310125

3310126

3310128

3310129

3310132

3310133

3310137

3310142

3310143

3310144

3310146

3310147

3310149

3310150

3310164

3310165

3310166

3310168

3310173

3310174

3310176

3310178

3310203

3310204

3310205

3310206

3310207

3310208

3310209

3310210

3310211

34354_at

73572_at

7936734

A_23_P303145

A_23_P303149

A_24_P206624

GE61433

GE798271

GO:0000122

GO:0000166

GO:0001525

GO:0001657

GO:0001701

GO:0001837

GO:0002053

GO:0002376

GO:0003148

GO:0003149

GO:0003416

GO:0004672

GO:0004713

GO:0004714

GO:0005007

GO:0005515

GO:0005524

GO:0005576

GO:0005622

GO:0005634

GO:0005737

GO:0005794

GO:0005886

GO:0005887

GO:0005938

GO:0006351

GO:0006355

GO:0006468

GO:0006915

GO:0007169

GO:0007267

GO:0007409

GO:0008201

GO:0008284

GO:0008543

GO:0008589

GO:0009791

GO:0009880

GO:0009887

GO:0009986

GO:0010518

GO:0010839

GO:0012501

GO:0016020

GO:0016021

GO:0016301

GO:0016310

GO:0016331

GO:0016740

GO:0017134

GO:0018108

GO:0021769

GO:0021847

GO:0021860

GO:0022414

GO:0022612

GO:0023052

GO:0030154

GO:0030177

GO:0030282

GO:0030312

GO:0030324

GO:0030855

GO:0030901

GO:0030916

GO:0031012

GO:0031069

GO:0031410

GO:0032496

GO:0032808

GO:0032991

GO:0033674

GO:0033688

GO:0035265

GO:0035602

GO:0035603

GO:0035604

GO:0035607

GO:0036211

GO:0042060

GO:0042472

GO:0042476

GO:0042803

GO:0043226

GO:0043235

GO:0043410

GO:0044344

GO:0045165

GO:0045471

GO:0045667

GO:0045787

GO:0045944

GO:0046777

GO:0048286

GO:0048333

GO:0048557

GO:0048562

GO:0048565

GO:0048568

GO:0048608

GO:0048661

GO:0048701

GO:0048705

GO:0048730

GO:0048755

GO:0048762

GO:0048856

GO:0050679

GO:0050680

GO:0051150

GO:0051781

GO:0055010

GO:0060045

GO:0060076

GO:0060089

GO:0060174

GO:0060348

GO:0060349

GO:0060442

GO:0060445

GO:0060449

GO:0060463

GO:0060484

GO:0060501

GO:0060512

GO:0060523

GO:0060527

GO:0060529

GO:0060595

GO:0060601

GO:0060615

GO:0060664

GO:0060667

GO:0060670

GO:0060688

GO:0060915

GO:0060916

GO:0062023

GO:0070372

GO:0070374

GO:0071300

GO:0071495

GO:0071560

GO:0090263

GO:0140096

HMNXSV003001516

HMNXSV003003698

HMNXSV003045562

HMNXSV003050281

ILMN_1682270

M87770_at

PH_hs_0024624

TC10001711.hg

g13186252_3p_a_at

g13186256_3p_at

g13186266_3p_a_at

g186740_3p_a_at

g186781_3p_a_at

g6691454_3p_a_at

g6691454_3p_x_at

Participates

as a member of

FGFR2c mutants with enhanced ligand binding [plasma membrane] (Homo sapiens)

as a component of

FGFR2c S252W mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

FGFR2c P253R [plasma membrane]

FGFR2c A315S [plasma membrane]

FGFR2c A314S [plasma membrane]

FGFR2c A314D [plasma membrane]

FGFR2c A315T [plasma membrane]

FGFR2c W290G [plasma membrane]

FGFR2c Y375C [plasma membrane]

FGFR2c S372C [plasma membrane]

p-8Y-FGFR2c S252W [plasma membrane]

p-8Y-FGFR2c P253R [plasma membrane]

p-8Y-FGFR2c A315S mutant [plasma membrane]

p-8Y-FGFR2c A314S [plasma membrane]

p-8Y-FGFR2c A314D [plasma membrane]

p-8Y-FGFR2c A315T [plasma membrane]

p-8Y-FGFR2c W290G [plasma membrane]

p-8Y-FGFR2c S372C [plasma membrane]

p-8Y-FGFR2c Y375C [plasma membrane]

FGFR2c long [plasma membrane]

p-8Y-FGFR2c long [plasma membrane]

Modified Residues

Name

L-serine 252 replaced with L-tryptophan

Coordinate

252

PsiMod

L-tryptophan residue [MOD:00027]

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

L-serine removal [MOD:01646]

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

Disease

Name	Identifier	Synonyms
female reproductive endometrioid cancer	DOID:3001	endometrioid tumor (morphologic abnormality), endometrioid neoplasm
ovarian cancer	DOID:2394	ovarian neoplasm, malignant tumour of ovary, neoplasm of ovary (disorder), ovary neoplasm, primary malignant neoplasm of ovary and other uterine adnexa (disorder), ovarian cancer, tumor of the Ovary, ovary cancer, malignant Ovarian tumor, primary ovarian cancer, malignant tumor of ovary (disorder)
craniosynostosis	DOID:2340	Premature closure of cranial sutures
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
bone development disease	DOID:0080006
acrocephalosyndactylia	DOID:12960	Apert syndrome

Cross References

RefSeq

NP_001138391.1, NP_001307583.1, NP_001138389.1, NP_001138388.1, NP_001138387.1, NP_075259.4, NP_001138390.1, NP_000132.3, NP_001138385.1, NP_001307587.1, NP_075418.1, NP_001138386.1

ZINC - World Drugs

FGFR2_HUMAN

Guide to Pharmacology - Targets

1809

OpenTargets

ENSG00000066468

ZINC - FDA approved

FGFR2_HUMAN

ZINC - Substances

FGFR2_HUMAN

ZINC - Biogenic

FGFR2_HUMAN

ZINC target

P21802

PRO

P21802

PDB

1OEC, 6AGX, 3CAF, 2PSQ, 4J98, 1IIL, 5UHN, 4J96, 7KIA, 4WV1, 4J23, 1II4, 3EUU, 1EV2, 2PZ5, 1WVZ, 6LVK, 2PWL, 2PY3, 5UI0, 3CU1, 3RI1, 3CLY, 2PZP, 1NUN, 7OZY, 6V6Q, 2PVY, 1GJO, 5EG3, 3B2T, 4J99, 7KIE, 2Q0B, 4J97, 1E0O, 5UGL, 1DJS, 6LVL, 4J95, 2PVF, 5UGX, 3OJ2, 3DAR, 2PZR, 3OJM, 2FDB

ZINC - Investigational

FGFR2_HUMAN

COSMIC

COSV60638319, COSM41289

IntEnz

2.7.10.1

GeneCards

P21802

HPA

ENSG00000066468-FGFR2

Ensembl

ENST00000346997, ENST00000358487, ENST00000359354, ENST00000357555, ENST00000457416, ENST00000369056, ENSP00000508257, ENST00000360144, ENST00000682550, ENST00000356226, ENSP00000358052, ENSP00000358056, ENST00000351936, ENST00000683211, ENSP00000507633, ENSP00000358057, ENSG00000066468, ENSP00000263451, ENSP00000352309, ENSP00000351276, ENSP00000350166, ENSP00000410294, ENST00000369060, ENSP00000309878, ENSP00000348559, ENSP00000353262, ENST00000369061

Pharos - Targets

P21802

ZINC - Predictions - Purchasable

FGFR2_HUMAN

Orphanet

16664

Interactors (10)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P62993 GRB2	1	GRB2 [cytosol] (R-HSA-8983328)	0.735	6
UniProt:P09038 FGF2	1	FGF2(10-155) [extracellular region] (R-HSA-189898)	0.713	4
ChEBI:73280 SSR			0.683	8
UniProt:P51812 RPS6KA3	7	RPS6KA3 [nucleoplasm] (R-HSA-199869) p-4S,T231,T365-RPS6KA3 [nucleoplasm] (R-HSA-199830) RPS6KA3 [cytosol] (R-HSA-444250) p-T365,S369,T577-RPS6KA3 [cytosol] (R-HSA-9619959) p-S227,T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619872) p-T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619989) p-S227,T365,S369,S386,T577,T737-RPS6KA3 [nucleoplasm] (R-HSA-444286)	0.671	4
UniProt:O15520 FGF10	1	FGF10 [extracellular region] (R-HSA-189869)	0.571	2
UniProt:P05230 FGF1	1	FGF1 [extracellular region] (R-HSA-189856)	0.571	2
UniProt:P19174 PLCG1	6	p-4Y-PLCG1 [plasma membrane] (R-HSA-167679) PLCG1 [plasma membrane] (R-HSA-167682) PLCG1 [cytosol] (R-HSA-202320) p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-HSA-202357) p-Y771,Y783-PLCG1 [plasma membrane] (R-HSA-1169084) p-Y-PLCG1 [cytosol] (R-HSA-9029082)	0.528	3
UniProt:Q06124 PTPN11	4	p-Y546-PTPN11 [cytosol] (R-HSA-1369081) PTPN11 [nucleoplasm] (R-HSA-8937745) PTPN11 [cytosol] (R-HSA-162563) p-Y546,Y584-PTPN11 [cytosol] (R-HSA-162573)	0.519	2
UniProt:P11362 FGFR1	9	FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853241) FGFR1 K656E [plasma membrane] (R-HSA-1614373) FGFR1 N546K [plasma membrane] (R-HSA-1614377) FGFR1 R576W [plasma membrane] (R-HSA-2011844) p-6Y FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853142) p-8Y-FGFR1 K656E [plasma membrane] (R-HSA-2023356) p-8Y-FGFR1 N546K [plasma membrane] (R-HSA-2023358) p-8Y- FGFR1 R576W [plasma membrane] (R-HSA-2023361) FGFR1 [plasma membrane] (R-HSA-9756433)	0.499	2
UniProt:Q86VI4 LAP4B			0.463	2

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