FGFR3 K650E [plasma membrane]

Stable Identifier
R-HSA-1614400
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
FGFR3 K650E [plasma membrane] icon
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
17344846 Patterns of somatic mutation in human cancer genomes

Easton, DF, Dicks, E, Stratton, MR, Davies, H, Louis, DN, Tofts, C, Teh, BT, Edkins, S, Teague, J, Futreal, PA, Forbes, S, Vastrik, I, Varian, J, Wooster, R, Birney, E, Gray, K, Jones, D, Hinton, J, Hunter, C, Schmidt, EE, Yates, A, Greenman, C, Halliday, K, Yuen, ST, Hills, K, O'Meara, S, Khoo, SK, Green, AR, Jenkinson, A, Greaves, MF, Perry, J, Menzies, A, DeFazio, A, Nicholson, AG, Clements, J, Dalgliesh, GL, Chiew, YE, Choudhury, B, Chenevix-Trench, G, Harrison, R, Campbell, P, Cahill, DP, Leung, SY, Bhamra, G, Butler, A, Stephens, P, Stevens, C, Cole, J, Small, A, Brasseur, F, Smith, R, Buck, G, Raine, K, Barthorpe, S, Shepherd, R, Bignell, G, Webb, T, Tan, MH, Mironenko, T, Richardson, D, Avis, T, Looijenga, L, Weber, BL, West, S, Widaa, S, Goldstraw, P

Nature 2007
10053006 A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

Wilcox, WR, Jabs, EW, Bellus, GA, Bamshad, MJ, Wasmuth, JJ, Donoghue, DJ, Jiang, W, Fraley, AE, Francomano, CA, Thompson, LM, McIntosh, I, Szabo, J, Webster, MK, Tavormina, PL

Am J Hum Genet 1999
19855393 Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

Taylor, IB, Olesen, IA, Pfeifer, SP, McGowan, SJ, Goriely, A, Rajpert-De Meyts, E, McVean, GA, Jacobsen, GK, Wilkie, AO, Hansen, RM

Nat Genet 2009
11290605 The myeloma-associated oncogene fibroblast growth factor receptor 3 is transforming in hematopoietic cells

Hawley, TS, Patterson, B, Chesi, M, Plowright, EE, Stewart, AK, Bergsagel, PL, Zhu, YX, Hawley, RG, Li, Z

Blood 2001
11429702 Deregulated FGFR3 mutants in multiple myeloma cell lines with t(4;14): comparative analysis of Y373C, K650E and the novel G384D mutations

Otsuki, T, Lombardi, L, Colombo, G, Greco, A, Compasso, S, Neri, A, Ronchetti, D, Dell'Era, P

Oncogene 2001
10471491 Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas

Sastre-Garau, X, de Medina, S, Chopin, D, Radvanyi, F, Bourdin, J, Thiery, JP, Ricol, D, Cappellen, D, De Oliveira, C

Nat Genet 1999
11157491 Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma

Mesri, EA, Kuehl, WM, Ely, SA, Chesi, M, Brents, LA, Bergsagel, PL, Bais, C, Robbiani, DF

Blood 2001
11055896 Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

Francomano, CA, Spector, EB, Bellus, GA, Garber, AT, Israel, J, Bryke, CR, Speiser, PW, Donoghue, DJ, Weaver, CA, Webster, MK, Rosengren, SS

Am J Hum Genet 2000
External Reference Information
External Reference
Gene Names
FGFR3, JTK4
Chain
signal peptide:1-22, chain:23-806
Other Identifiers
11717969_a_at
11755786_a_at
16964027
204379_PM_s_at
204379_s_at
204380_PM_s_at
204380_s_at
2261
2715017
2715018
2715019
2715026
2715027
2715028
2715029
2715030
2715031
2715032
2715033
2715039
2715040
2715041
2715042
2715043
2715045
2715046
2715047
2715048
2715049
2715051
2715053
2715054
2715056
2715057
2715058
31805_at
8093518
A_14_P132738
A_23_P212830
A_23_P500501
GE577766
GE58034
GO:0000165
GO:0000166
GO:0001501
GO:0001958
GO:0002062
GO:0003416
GO:0003824
GO:0004672
GO:0004713
GO:0004714
GO:0005007
GO:0005515
GO:0005524
GO:0005576
GO:0005783
GO:0005794
GO:0005886
GO:0005925
GO:0006468
GO:0006915
GO:0007169
GO:0007259
GO:0007267
GO:0008284
GO:0008543
GO:0009986
GO:0010518
GO:0012501
GO:0016020
GO:0016301
GO:0016310
GO:0016740
GO:0017134
GO:0023052
GO:0030133
GO:0030154
GO:0030282
GO:0031410
GO:0035988
GO:0036211
GO:0042531
GO:0042802
GO:0043226
GO:0043235
GO:0043410
GO:0048640
GO:0048856
GO:0051897
GO:0060089
GO:0060349
GO:0070374
GO:0070977
GO:0140096
GO:1902178
HMNXSV003038877
ILMN_1651966
ILMN_1723123
M64347_at
TC04000029.hg
TC04001856.hg
g13112046_3p_a_at
g182568_3p_a_at
Participates
Other forms of this molecule
Modified Residues
Name
L-lysine 650 replaced with L-glutamic acid
Coordinate
650
PsiMod
A protein modification that effectively converts a source amino acid residue to an L-glutamic acid.
A protein modification that effectively removes or replaces an L-lysine.
Disease
Name Identifier Synonyms
multiple myeloma DOID:9538
bladder carcinoma DOID:4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
bone development disease DOID:0080006
thanatophoric dysplasia DOID:13481
testicular cancer DOID:2998 testicular tumor, testicular tumor (disorder), testis cancer, testis neoplasm, neoplasm of testis (disorder)
Cross References
ZINC - World Drugs
Guide to Pharmacology - Targets
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
ZINC - Investigational
GeneCards
Pharos - Targets
ZINC - Predictions - Purchasable
Orphanet
Interactors (52)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P08238 HSP90AB1  6 0.667 4
 UniProt:O95674 CDS2  1 0.659 4
 UniProt:Q9BXU0 TEX12  1 0.556 3
 UniProt:Q07869 PPARA  2 0.556 3
 UniProt:Q13573 SNW1  1 0.556 3
 UniProt:Q06547-2 GABPB1  1 0.556 3
 UniProt:O14641 DVL2  5 0.556 3
 UniProt:P24941 CDK2  5 0.556 3
 UniProt:Q99743 NPAS2  2 0.556 3
 UniProt:Q8WUX9 CHMP7  2 0.556 3
 UniProt:Q96T60 PNKP  1 0.556 3
 UniProt:Q04206 RELA  7 0.556 3
 UniProt:P38936 CDKN1A  5 0.556 3
 UniProt:Q96EZ8 MCRS1  1 0.556 3
 UniProt:O15534 PER1  4 0.556 3
 UniProt:O14544 SOCS6  1 0.556 3
 UniProt:Q9Y2Y0 ARL2BP  2 0.556 3
 UniProt:P55318 FOXA3  1 0.556 3
 UniProt:Q06323 PSME1  1 0.556 3
 UniProt:P19388 POLR2E  2 0.556 3
 UniProt:Q6NXG1 ESRP1  3 0.556 3
 UniProt:Q6N021 TET2  1 0.556 3
 UniProt:P62333 PSMC6  2 0.556 3
 UniProt:O43504 LAMTOR5  1 0.556 3
 UniProt:Q9UKV8 AGO2  2 0.556 3
 UniProt:P22692 IGFBP4  5 0.556 3
 UniProt:Q8N5V2 NGEF  2 0.556 3
 UniProt:Q7Z7J5 DPPA2  1 0.556 3
 UniProt:Q13352 ITGB3BP  2 0.556 3
 UniProt:P10809 HSPD1  6 0.556 3
 UniProt:Q86WV5 TEN1  1 0.556 3
 UniProt:P62244 RPS15A  2 0.556 3
 UniProt:Q6IAA8 LAMTOR1  5 0.556 3
 UniProt:P41134 ID1  1 0.556 3
 UniProt:Q16621 NFE2  1 0.556 3
 UniProt:Q9NZH6 IL37  6 0.556 3
 UniProt:P17275 JUNB  1 0.556 3
 UniProt:P05412 JUN  4 0.556 3
 UniProt:Q9UJU6 DBNL  7 0.556 3
 UniProt:Q9H2A9 CHST8  1 0.556 3
 UniProt:Q9BVC3 DSCC1  1 0.556 3
 UniProt:Q8N3R9 MPP5  2 0.556 3
 UniProt:A0AVK6 E2F8  1 0.556 3
 UniProt:Q9GZQ8 MAP1LC3B  3 0.556 3
 UniProt:P23771 GATA3  2 0.556 3
 UniProt:Q9UBX5 FBLN5  1 0.556 3
 UniProt:Q99075 HBEGF  8 0.556 3
 UniProt:Q06547-3 GABPB1  1 0.556 3
 UniProt:P01106 MYC  2 0.556 3
 UniProt:Q15814 TBCC  1 0.556 3
 UniProt:Q00994 BEX3  1 0.556 3
 UniProt:P22415 USF1  2 0.556 3
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