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FGFR3 R248C
Stable Identifier
R-HSA-1614419
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of signal transduction (Homo sapiens)
Signaling by FGFR in disease (Homo sapiens)
Signaling by FGFR3 in disease (Homo sapiens)
Signaling by FGFR3 point mutants in cancer (Homo sapiens)
FGFR3 mutant receptor activation (Homo sapiens)
FGFR3 mutants bind and are inactivated by tyrosine kinase inhibitors (Homo sapiens)
FGFR3 mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 (4;14) translocation mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
FGFR3 cysteine mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
FGFR3 mutant dimers:TKIs [plasma membrane] (Homo sapiens)
FGFR3 mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 (4;14) translocation mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
FGFR3 cysteine mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
Signaling by activated point mutants of FGFR3 (Homo sapiens)
Autocatalytic phosphorylation of FGFR3 cysteine mutants (Homo sapiens)
FGFR3 cysteine mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
Constitutive dimerization of FGFR3 cysteine mutants (Homo sapiens)
FGFR3 cysteine mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
FGFR3 cysteine mutants [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
t(4;14) translocations of FGFR3 (Homo sapiens)
Autocatalytic phosphorylation of FGFR3 t(4;14) translocation mutants (Homo sapiens)
FGFR3 (4;14) translocation mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
Dimerization of FGFR3 t(4;14) translocation mutants (Homo sapiens)
FGFR3 (4;14) translocation mutant dimers [plasma membrane] (Homo sapiens)
FGFR3 R248C mutant dimer [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
FGFR3 (4;14) translocation mutants [plasma membrane] (Homo sapiens)
FGFR3 R248C [plasma membrane] (Homo sapiens)
Literature References
PubMed ID
Title
Journal
Year
7773297
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
Nat Genet
1995
8845844
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
Hum Mol Genet
1996
8589699
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I
Hum Mol Genet
1995
11529856
Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14)
Br J Haematol
2001
12368157
Novel mutation and RNA splice variant of fibroblast growth factor receptor 3 in multiple myeloma patients at diagnosis
Haematologica
2002
19327639
Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip
Oral Surg Oral Med Oral Pathol Oral Radiol Endod
2009
10471491
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas
Nat Genet
1999
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):hsa:2261 FGFR3
Monarch:2261 FGFR3
NCBI Gene:2261 FGFR3
OMIM:134934 FGFR3
UCSC:P22607 FGFR3
Reference Transcript
RefSeq:NM_022965.3 FGFR3
RefSeq:NM_001163213.1 FGFR3
RefSeq:NM_000142.4 FGFR3
Other Identifiers
0002940050
0003850722
11717969_a_at
11755786_a_at
16964027
1RY7
204379_s_at
204380_s_at
2261
2LZL
31805_at
4231
4K33
67204
8093518
A_14_P132738
A_23_P212830
A_23_P500501
AAA52450
AAA58470
AAA63209
AAA67781
AAB33323
AAF63380
AAU89726
AB209441
AC016773
AF245114
AY768549
BAD92678
CAA59334
CAB004231
CCDS3353
CCDS3354
CCDS54706
CH471131
EAW82564
EAW82565
EAW82566
EAW82567
ENSG00000068078
ENSP00000231803
ENSP00000260795
ENSP00000339824
ENSP00000412903
ENSP00000414914
ENST00000260795
ENST00000340107
ENST00000352904
ENST00000412135
ENST00000440486
EntrezGene:2261
FGFR3
FGFR3-201
FGFR3-202
FGFR3-203
FGFR3-204
FGFR3-205
g13112046_3p_a_at
GE58034
GO:0000165
GO:0000166
GO:0001501
GO:0001958
GO:0002062
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:0005737
GO:0005783
GO:0005794
GO:0005886
GO:0005887
GO:0005925
GO:0006464
GO:0006468
GO:0006629
GO:0006915
GO:0007165
GO:0007259
GO:0007267
GO:0008150
GO:0008219
GO:0008283
GO:0008284
GO:0008543
GO:0009058
GO:0009986
GO:0010518
GO:0014066
GO:0016020
GO:0016021
GO:0016301
GO:0016303
GO:0016310
GO:0016740
GO:0017134
GO:0018108
GO:0019899
GO:0021700
GO:0030133
GO:0030154
GO:0030282
GO:0031410
GO:0035988
GO:0036092
GO:0038111
GO:0040007
GO:0042531
GO:0043167
GO:0043226
GO:0043410
GO:0043547
GO:0043552
GO:0046777
GO:0046854
GO:0046934
GO:0048015
GO:0048640
GO:0048856
GO:0060349
GO:0070374
GO:0070977
GO:1902178
HGNC:3690
HPA067204
Hs.1420
I6LM06
ILMN_1651966
ILMN_1723123
IPR000719
IPR001245
IPR003598
IPR003599
IPR007110
IPR008266
IPR011009
IPR013098
IPR013783
IPR016248
IPR017441
IPR020635
LRG_1021
LRG_1021t1
LRG_1021t2
M58051
M59374
M64347
M64347_at
MIM:100800
MIM:109800
MIM:114500
MIM:134934
MIM:146000
MIM:149730
MIM:162900
MIM:187600
MIM:187601
MIM:273300
MIM:602849
MIM:603956
MIM:610474
MIM:612247
MIM:616482
NM_000142
NM_001163213
NM_001354809
NM_022965
NP_000133
NP_001156685
NP_001341738
NP_075254
PF07679
PF07714
PF13927
PR00109
Q96T34
S76733
SM00219
SM00408
SM00409
TC04000029.hg
TC04001856.hg
U22410
uc003gdr.3
uc003gds.3
uc003gdu.2
uc062umq.1
uc062umr.1
UPI000002A9AC
UPI000002A9AD
UPI000012A72C
X84939
XM_006713868
XM_006713869
XM_006713870
XM_006713871
XM_006713872
XM_006713873
XM_011513420
XM_011513422
XP_006713931
XP_006713932
XP_006713933
XP_006713934
XP_006713936
XP_011511722
XP_011511724
Participant Of
hasMember
FGFR3 (4;14) translocation mutants [plasma membrane]
FGFR3 cysteine mutants [plasma membrane]
hasComponent
FGFR3 R248C mutant dimer [plasma membrane]
Other forms of this molecule
FGFR3 K650T [plasma membrane]
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]
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]
FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
p-4Y FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]
p-4Y FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]
p-4Y FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]
Modified Residues
Name
L-arginine 248 replaced with L-cysteine
Coordinate
248
PsiMod HEY
L-cysteine residue [MOD:00014]
A protein modification that effectively converts a source amino acid residue to an L-cysteine.
L-arginine removal [MOD:01632]
A protein modification that effectively removes or replaces an L-arginine.
Disease
Name
Identifier
Synonyms
bladder carcinoma
4007
carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
multiple myeloma
9538
cancer
162
malignant tumor, malignant neoplasm, primary cancer
head and neck squamous cell carcinoma
5520
carcinoma of the head and neck, squamous cell carcinoma of the head and neck
bone development disease
0080006
thanatophoric dysplasia
13481
Cross References
RefSeq
NP_075254.1
,
NP_000133.1
,
NP_001156685.1
ZINC - World Drugs
FGFR3_HUMAN
Brenda
2.7.10.1
ZINC - FDA approved
FGFR3_HUMAN
GeneCards
P22607
ZINC - Substances
FGFR3_HUMAN
ZINC target
P22607
ZINC - Biogenic
FGFR3_HUMAN
PRO
P22607
COSMIC (mutations)
35896
,
714
Orphanet
16047
ZINC - Predictions - Purchasable
FGFR3_HUMAN
PDB
4K33
,
1RY7
,
2LZL
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P08238 HSP90AB1
5
HSP90AB1 [extracellular region]
(R-HSA-6806463)
HSP90AB1 [secretory granule lumen]
(R-HSA-6801477)
HSP90AB1 [ficolin-1-rich granule lumen]
(R-HSA-6801491)
HSP90AB1 [cytosol]
(R-HSA-419617)
HSP90AB1 [nucleoplasm]
(R-HSA-5082399)
0.524
2
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