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
Icon
FGFR2c S252W [plasma membrane] icon
FGFR2c S252W [plasma membrane] icon
Locations in the PathwayBrowser
Expand all
General

also Apert

Literature References
PubMed ID Title Journal Year
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
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
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
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
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_s_at
203639_s_at
208225_at
208228_s_at
208234_x_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
3310209
3310210
3310211
34354_at
73572_at
7936734
A_23_P303145
A_23_P303149
A_24_P206624
GE61433
GE798271
GO:0000003
GO:0000122
GO:0000165
GO:0000166
GO:0000902
GO:0001525
GO:0001657
GO:0001701
GO:0001837
GO:0002053
GO:0003148
GO:0003149
GO:0003416
GO:0003674
GO:0004672
GO:0004713
GO:0004714
GO:0005007
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005622
GO:0005634
GO:0005737
GO:0005794
GO:0005886
GO:0005887
GO:0005938
GO:0006464
GO:0006468
GO:0006915
GO:0006950
GO:0007049
GO:0007165
GO:0007169
GO:0007267
GO:0007275
GO:0007409
GO:0008150
GO:0008201
GO:0008219
GO:0008283
GO:0008284
GO:0008543
GO:0008589
GO:0009058
GO:0009790
GO:0009791
GO:0009880
GO:0009887
GO:0009986
GO:0010518
GO:0010839
GO:0016020
GO:0016021
GO:0016301
GO:0016310
GO:0016331
GO:0016740
GO:0017134
GO:0018108
GO:0021769
GO:0021847
GO:0021860
GO:0022612
GO:0030154
GO:0030177
GO:0030282
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:0034641
GO:0035265
GO:0035602
GO:0035603
GO:0035604
GO:0035607
GO:0040007
GO:0042060
GO:0042472
GO:0042476
GO:0042802
GO:0042803
GO:0043167
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:0048646
GO:0048661
GO:0048701
GO:0048705
GO:0048730
GO:0048755
GO:0048762
GO:0048856
GO:0050679
GO:0050680
GO:0051150
GO:0051301
GO:0051781
GO:0051897
GO:0055010
GO:0060045
GO:0060076
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:0071560
GO:0090263
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
as a component of
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-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-tryptophan residue [MOD:00027]
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
Disease
Name Identifier Synonyms
bone development disease DOID:0080006
craniosynostosis DOID:2340 Premature closure of cranial sutures
female reproductive endometrioid cancer DOID:3001 endometrioid tumor (morphologic abnormality), endometrioid neoplasm
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
acrocephalosyndactylia DOID:12960 Apert syndrome
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)
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB
ZINC - Investigational
COSMIC
HPA
GeneCards
Ensembl
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
Interactors (6)
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