FGFR2c S252W

Stable Identifier
R-HSA-2011852
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
FGFR2-1 S252W mutant
Locations in the PathwayBrowser
Expand all
Summation

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

Ibrahimi, OA, Zhang, F, Eliseenkova, AV, Linhardt, RJ, Mohammadi, M

Hum Mol Genet 2004
7719344 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Wilkie, AO, Slaney, SF, Oldridge, M, Poole, MD, Ashworth, GJ, Hockley, AD, Hayward, RD, David, DJ, Pulleyn, LJ, Rutland, P

Nat Genet 1995
18552176 Drug-sensitive FGFR2 mutations in endometrial carcinoma

Dutt, A, Salvesen, HB, Chen, TH, Ramos, AH, Onofrio, RC, Hatton, C, Nicoletti, R, Winckler, W, Grewal, R, Hanna, M, Wyhs, N, Ziaugra, L, Richter, DJ, Trovik, J, Engelsen, IB, Stefansson, IM, Fennell, T, Cibulskis, K, Zody, MC, Akslen, LA, Gabriel, S, Wong, KK, Sellers, WR, Meyerson, M, Greulich, H

Proc Natl Acad Sci U S A 2008
20106510 FGFR2 mutations are rare across histologic subtypes of ovarian cancer

Byron, SA, Gartside, MG, Wellens, CL, Goodfellow, PJ, Birrer, MJ, Campbell, IG, Pollock, PM

Gynecol Oncol 2010
External Reference Information
External Reference
UniProt:P21802-1 FGFR2
Gene Names
FGFR2, BEK, KGFR, KSAM
Other Identifiers
0000730167
0002470154
10886
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
1DJS
1E0O
1EV2
1GJO
1II4
1IIL
1NUN
1OEC
1WVZ
203638_s_at
203639_s_at
208225_at
208228_s_at
208234_x_at
211401_s_at
2263
2FDB
2PSQ
2PVF
2PVY
2PWL
2PY3
2PZ5
2PZP
2PZR
2Q0B
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
3310210
34354_at
35305
3B2T
3CAF
3CLY
3CU1
3DAR
3EUU
3OJ2
3OJM
3RI1
4J23
4J95
4J96
4J97
4J98
4J99
4WV1
56562
5EG3
5UGL
5UGX
5UHN
5UI0
7936734
A0A141AXF1
A_23_P303145
A_23_P303149
A_24_P206624
AAA36147
AAA36152
AAA52449
AAA59470
AAA59471
AAA59472
AAA61188
AAA68514
AAC41933
AAC41934
AAC41935
AAC41936
AAC41937
AAC41938
AAD14392
AAD31560
AAD31561
AAD31562
AAD31565
AAD31567
AAF43273
AAF43274
AAH39243
AAK94205
AAK94206
AAK94207
AAK94208
AAK94209
AAM74056
AB030073
AB030074
AB030075
AB030076
AB030077
AB030078
AB084153
ABE96832
AC009988
AF097337
AF097338
AF097339
AF097340
AF097341
AF097342
AF097343
AF097344
AF097345
AF097346
AF097347
AF097348
AF097349
AF097350
AF097351
AF097352
AF097353
AF097354
AF169399
AF360695
AF410480
AF487553
AK294026
AKA19581
BAA89296
BAA89297
BAA89298
BAA89299
BAA89300
BAA89301
BAC45037
BAG57383
BC039243
CAA37014
CAA39654
CAA76643
CAA96492
CAB010886
CCDS31298
CCDS44485
CCDS44486
CCDS44487
CCDS44488
CCDS44489
CCDS53584
CCDS7620
CCDS81515
D2CGD1
DQ493927
ENSG00000066468
ENSP00000263451
ENSP00000348559
ENSP00000350166
ENSP00000351276
ENSP00000352309
ENSP00000353262
ENSP00000358052
ENSP00000358054
ENSP00000358056
ENSP00000358057
ENSP00000410294
ENST00000346997
ENST00000356226
ENST00000357555
ENST00000358487
ENST00000359354
ENST00000360144
ENST00000369056
ENST00000369058
ENST00000369060
ENST00000369061
ENST00000457416
EntrezGene:2263
FGFR2
FGFR2-202
FGFR2-204
FGFR2-205
FGFR2-206
FGFR2-207
FGFR2-208
FGFR2-209
FGFR2-210
FGFR2-212
FGFR2-213
FGFR2-215
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
GE61433
GO:0000003
GO:0000122
GO:0000165
GO:0000166
GO:0000902
GO:0001525
GO:0001657
GO:0001701
GO:0001837
GO:0002053
GO:0002376
GO:0003148
GO:0003149
GO:0003416
GO:0003674
GO:0004672
GO:0004713
GO:0004714
GO:0004871
GO:0005007
GO:0005088
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005622
GO:0005623
GO:0005634
GO:0005654
GO:0005737
GO:0005794
GO:0005886
GO:0005887
GO:0005938
GO:0006464
GO:0006468
GO:0006629
GO:0006915
GO:0006950
GO:0007049
GO:0007165
GO:0007267
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:0010453
GO:0010518
GO:0016020
GO:0016021
GO:0016301
GO:0016303
GO:0016310
GO:0016331
GO:0016740
GO:0017134
GO:0018108
GO:0019899
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:0033688
GO:0034641
GO:0035264
GO:0035265
GO:0035602
GO:0035603
GO:0035604
GO:0035607
GO:0036092
GO:0040007
GO:0040014
GO:0040036
GO:0042060
GO:0042472
GO:0042476
GO:0042803
GO:0043167
GO:0043226
GO:0043231
GO:0043410
GO:0044344
GO:0045165
GO:0045471
GO:0045667
GO:0045787
GO:0045944
GO:0046777
GO:0046854
GO:0046934
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:0060687
GO:0060688
GO:0060915
GO:0060916
GO:0070372
GO:0070374
GO:0071300
GO:0071560
GO:0090263
HGNC:3689
HPA035305
HPA056562
ILMN_1682270
IPR000719
IPR001245
IPR003598
IPR003599
IPR007110
IPR008266
IPR011009
IPR013098
IPR013783
IPR016248
IPR017441
IPR020635
IPR036179
KP192324
L49237
L49238
L49239
L49240
L49241
L49242
LRG_994
LRG_994t1
LRG_994t2
M35718
M55614
M80634
M87770
M87770_at
M87771
M87772
M97193
MIM:101200
MIM:101400
MIM:101600
MIM:123150
MIM:123500
MIM:123790
MIM:149730
MIM:176943
MIM:207410
MIM:609579
MIM:613659
MIM:614592
NM_000141
NM_001144913
NM_001144914
NM_001144915
NM_001144916
NM_001144917
NM_001144918
NM_001144919
NM_001320658
NM_022970
NP_000132
NP_001138385
NP_001138386
NP_001138387
NP_001138388
NP_001138389
NP_001138390
NP_001138391
NP_001307587
NP_075259
PF07679
PF07714
PF13927
PH_hs_0024624
PR00109
S82438
SM00219
SM00408
SM00409
TC10001711.hg
U11814
uc010qtl.3
uc010qtm.3
uc057wkt.1
uc057wku.1
uc057wkw.1
uc057wlc.1
uc057wle.1
uc057wlf.1
uc057wlg.1
uc057wlh.1
uc057wll.1
UPI000002A99A
UPI000002A99C
UPI000002A9A4
UPI000002A9A5
UPI000002A9A6
UPI000002A9A8
UPI00000743D5
UPI000012A72A
UPI000059D1C2
UPI000059D1C3
UPI0001929521
X52832
X56191
XM_006717708
XM_006717710
XM_006717711
XM_017015920
XM_017015921
XM_017015922
XM_017015924
XM_017015925
XP_006717771
XP_006717773
XP_006717774
XP_016871409
XP_016871410
XP_016871411
XP_016871413
XP_016871414
Y17131
Z71929
Participant Of
hasMember
hasComponent
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 HEY
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
ovarian cancer 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)
female reproductive endometrioid cancer 3001 endometrioid tumor (morphologic abnormality), endometrioid neoplasm
craniosynostosis 2340 Premature closure of cranial sutures
cancer 162 malignant tumor, malignant neoplasm, primary cancer
bone development disease 0080006
acrocephalosyndactylia 12960 Apert syndrome
Cross References
RefSeq
ZINC - World Drugs
COSMIC
ZINC - FDA approved
GeneCards
ZINC - Substances
ZINC target
PRO
BRENDA (Homo sapiens)
Orphanet
ZINC - Predictions - Purchasable
PDB
Interactors (6)