FGFR3 K650T [plasma membrane]

Stable Identifier
R-HSA-1614411
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Icon
FGFR3 K650T [plasma membrane] icon
FGFR3 K650T [plasma membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
12461689 Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders

van Rhijn, BW, van Tilborg, AA, Lurkin, I, Bonaventure, J, de Vries, A, Thiery, JP, van der Kwast, TH, Zwarthoff, EC, Radvanyi, F

Eur J Hum Genet 2002
19855393 Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

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

Nat Genet 2009
11055896 Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

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

Am J Hum Genet 2000
External Reference Information
External Reference
UniProt:P22607 FGFR3
Gene Names
FGFR3, JTK4
Chain
signal peptide:1-22, chain:23-806
Reference Genes
BioGPS Gene:2261 FGFR3
COSMIC (genes):FGFR3 FGFR3
CTD Gene:2261 FGFR3
dbSNP Gene:2261 FGFR3
ENSEMBL:ENSG00000068078 FGFR3
HGNC:3690 FGFR3
KEGG Gene (Homo sapiens):2261 FGFR3
Monarch:2261 FGFR3
NCBI Gene:2261 FGFR3
OMIM:134934 FGFR3
UCSC:P22607 FGFR3
Reference Transcript
Other Identifiers
0002940050
0003850722
11717969_a_at
11755786_a_at
16964027
204379_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:0003674
GO:0004672
GO:0004713
GO:0004714
GO:0005007
GO:0005515
GO:0005524
GO:0005575
GO:0005576
GO:0005622
GO:0005634
GO:0005737
GO:0005783
GO:0005794
GO:0005886
GO:0005887
GO:0005925
GO:0006464
GO:0006468
GO:0006629
GO:0006915
GO:0007165
GO:0007169
GO:0007267
GO:0007275
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0008543
GO:0009986
GO:0010518
GO:0016020
GO:0016021
GO:0016301
GO:0016310
GO:0016740
GO:0017134
GO:0018108
GO:0021700
GO:0030133
GO:0030154
GO:0030282
GO:0031410
GO:0032991
GO:0033674
GO:0035988
GO:0040007
GO:0042531
GO:0042802
GO:0043167
GO:0043226
GO:0043235
GO:0043410
GO:0043552
GO:0046777
GO:0048640
GO:0048856
GO:0051897
GO:0060349
GO:0070374
GO:0070977
GO:1902178
ILMN_1651966
ILMN_1723123
M64347_at
TC04000029.hg
TC04001856.hg
g13112046_3p_a_at
g182568_3p_a_at
Participant Of
hasMember
hasComponent
Other forms of this molecule
FGFR3 K650N [plasma membrane]
FGFR3 K650M [plasma membrane]
FGFR3 K650Q [plasma membrane]
FGFR3 A391E [plasma membrane]
FGFR3 K650E [plasma membrane]
FGFR3 G380R [plasma membrane]
FGFR3 G382D [plasma membrane]
FGFR3 795fs*139 [plasma membrane]
FGFR3 [plasma membrane]
FGFR3 S371C [plasma membrane]
FGFR3 Y373C [plasma membrane]
FGFR3 G370C [plasma membrane]
FGFR3 R248C [plasma membrane]
p-6Y-FGFR3 S371C [plasma membrane]
p-6Y-FGFR3 G370C [plasma membrane]
p-6Y-FGFR3 Y373C [plasma membrane]
p-6Y-FGFR3 795fs*139 [plasma membrane]
p-6Y-FGFR3 R248C [plasma membrane]
pY-FGFR3 [plasma membrane]
p-6Y-FGFR3 K650Q [plasma membrane]
p-6Y-FGFR3 K650N [plasma membrane]
p-6Y-FGFR3 K650E [plasma membrane]
p-6Y-FGFR3 K650M [plasma membrane]
p-6Y-FGFR3 G380R [plasma membrane]
p-6Y-FGFR3 G382D [plasma membrane]
p-6Y-FGFR3 K650T [plasma membrane]
p-6Y-FGFR3 A391E [plasma membrane]
p-4Y FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
p-4Y FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
p-4Y FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
p-4Y FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
Modified Residues
Name
L-lysine 650 replaced with L-threonine
Coordinate
650
PsiMod
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
L-threonine residue [MOD:00026]
A protein modification that effectively converts a source amino acid residue to L-threonine.
Disease
Name Identifier Synonyms
bladder carcinoma 4007 carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
hypochondroplasia 0080041
cancer 162 malignant tumor, malignant neoplasm, primary cancer
bone development disease 0080006
testicular cancer 2998 testicular tumor, testicular tumor (disorder), testis cancer, testis neoplasm, neoplasm of testis (disorder)
Cross References
RefSeq
ZINC - World Drugs
OpenTargets
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
PDB
ZINC - Investigational
COSMIC
731
HPA
GeneCards
Ensembl
Orphanet
ZINC - Predictions - Purchasable
Interactors (1)
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