FGFR2 N549H [plasma membrane]

Stable Identifier
R-HSA-2033296
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
FGFR2 N549H [plasma membrane] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
11781872 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis

Elanko, N, Rannan-Eliya, S, Muenke, M, Tomkins, S, Reich, EW, Twigg, SR, Zackai, EH, Verloes, A, McDonald-McGinn, DM, Wall, SA, Johnson, D, Cook, J, Kan, SH, Wilkie, AO, Cornejo-Roldan, L

Am J Hum Genet 2002
External Reference Information
External Reference
Gene Names
FGFR2, BEK, KGFR, KSAM
Chain
signal peptide:1-21, chain:22-821
Other Identifiers
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:0003824
GO:0004672
GO:0004713
GO:0004714
GO:0005007
GO:0005515
GO:0005524
GO:0005576
GO:0005634
GO:0005737
GO:0005794
GO:0005886
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: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:0033674
GO:0033688
GO:0035265
GO:0035602
GO:0035603
GO:0035604
GO:0035607
GO:0036211
GO:0042472
GO:0042476
GO:0042802
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: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:0071363
GO:0071456
GO:0071560
GO:0090263
GO:0140096
GO:1904707
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
Other forms of this molecule
Modified Residues
Name
L-asparagine 549 replaced with L-histidine
Coordinate
549
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-histidine.
A protein modification that effectively removes or replaces an L-asparagine.
Disease
Name Identifier Synonyms
Crouzon syndrome DOID:2339 Craniofacial Dysostosis
bone development disease DOID:0080006
Interactors (10)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P62993 GRB2  1 0.735 6
 UniProt:P09038 FGF2  1 0.713 4
 ChEBI:73280 SSR      0.683 8
 UniProt:P51812 RPS6KA3  7 0.671 4
 UniProt:P05230 FGF1  1 0.571 2
 UniProt:O15520 FGF10  1 0.571 2
 UniProt:P19174 PLCG1  6 0.528 3
 UniProt:Q06124 PTPN11  4 0.519 2
 UniProt:P11362 FGFR1  9 0.499 2
 UniProt:Q86VI4 LAP4B      0.463 2
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