p-6Y-FGFR3 K650N [plasma membrane]

Stable Identifier
R-HSA-2032961
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
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p-6Y-FGFR3 K650N [plasma membrane] icon
p-6Y-FGFR3 K650N [plasma membrane] icon
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
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
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
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:hsa:2261 FGFR3
Monarch:2261 FGFR3
NCBI Gene:2261 FGFR3
OMIM:134934 FGFR3
UCSC:P22607 FGFR3
Reference Transcript
Participates
as a component of
Other forms of this molecule
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]
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 805fs*141 [plasma membrane]
p-6Y-FGFR3 A391E [plasma membrane]
p-6Y-FGFR3 K650T [plasma membrane]
p-6Y-FGFR3 G382D [plasma membrane]
p-6Y-FGFR3 G380R [plasma membrane]
p-6Y-FGFR3 K650M [plasma membrane]
p-6Y-FGFR3 K650E [plasma membrane]
p-6Y-FGFR3 K650Q [plasma membrane]
pY-FGFR3 [plasma membrane]
p-6Y-FGFR3 R248C [plasma membrane]
p-6Y-FGFR3 805fs*141 [plasma membrane]
p-6Y-FGFR3 Y373C [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]
p-4Y-FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]
p-4Y-FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]
p-6Y-FGFR3 G370C [plasma membrane]
p-6Y-FGFR3 S371C [plasma membrane]
FGFR3 R248C [plasma membrane]
FGFR3 G370C [plasma membrane]
FGFR3 Y373C [plasma membrane]
FGFR3 S371C [plasma membrane]
FGFR3 [plasma membrane]
Modified Residues
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
O4'-phospho-L-tyrosine at unknown position
PsiMod Name
O4'-phospho-L-tyrosine [MOD:00048]
PsiMod Definition
A protein modification that effectively converts an L-tyrosine residue to O4'-phospho-L-tyrosine.
Name
L-lysine 650 replaced with L-asparagine
Coordinate
650
PsiMod
L-asparagine residue [MOD:00012]
A protein modification that effectively converts a source amino acid residue to an L-asparagine.
L-lysine removal [MOD:01642]
A protein modification that effectively removes or replaces an L-lysine.
Disease
Name Identifier Synonyms
hypochondroplasia DOID:0080041
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
bone development disease DOID:0080006
testicular cancer DOID:2998 testicular tumor, testicular tumor (disorder), testis cancer, testis neoplasm, neoplasm of testis (disorder)
Cross References
RefSeq
ZINC - World Drugs
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
ZINC - FDA approved
ZINC - Substances
ZINC - Biogenic
ZINC target
PRO
GlyGen
PDB
ZINC - Investigational
GeneCards
HPA
Pharos - Targets
Orphanet
ZINC - Predictions - Purchasable
HMDB Protein
Interactors (55)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P08238 HSP90AB1  6 0.667 4
 UniProt:O95674 CDS2  1 0.659 4
 UniProt:Q06547-2 GABPB1  1 0.556 3
 UniProt:P17275 JUNB  1 0.556 3
 UniProt:A0AVK6 E2F8  1 0.556 3
 UniProt:P62333 PSMC6  2 0.556 3
 UniProt:P19388 POLR2E  2 0.556 3
 UniProt:Q13573 SNW1  1 0.556 3
 UniProt:Q12824 SMARCB1  1 0.556 3
 UniProt:Q9UBX5 FBLN5  1 0.556 3
 UniProt:O14641 DVL2  5 0.556 3
 UniProt:Q99743 NPAS2  2 0.556 3
 UniProt:P62244 RPS15A  2 0.556 3
 UniProt:Q86WV5 TEN1  1 0.556 3
 UniProt:Q9H2A9 CHST8  1 0.556 3
 UniProt:P24941 CDK2  5 0.556 3
 UniProt:Q07869 PPARA  2 0.556 3
 UniProt:P55318 FOXA3  1 0.556 3
 UniProt:P05412 JUN  4 0.556 3
 UniProt:Q16621 NFE2  1 0.556 3
 UniProt:Q6N021 TET2  1 0.556 3
 UniProt:Q96T60 PNKP  1 0.556 3
 UniProt:Q06547-3 GABPB1  1 0.556 3
 UniProt:P22415 USF1  2 0.556 3
 UniProt:P14618 PKM  4 0.556 3
 UniProt:P01106 MYC  2 0.556 3
 UniProt:Q9GZQ8 MAP1LC3B  3 0.556 3
 UniProt:Q96EZ8 MCRS1  1 0.556 3
 UniProt:P22692 IGFBP4  5 0.556 3
 UniProt:Q13352 ITGB3BP  2 0.556 3
 UniProt:Q15814 TBCC  1 0.556 3
 UniProt:Q9UKV8 AGO2  2 0.556 3
 UniProt:P41134 ID1  1 0.556 3
 UniProt:Q7Z7J5 DPPA2  1 0.556 3
 UniProt:O15534 PER1  4 0.556 3
 UniProt:Q9BVC3 DSCC1  1 0.556 3
 UniProt:Q9Y2Y0 ARL2BP  2 0.556 3
 UniProt:Q8N3R9 MPP5  2 0.556 3
 UniProt:O14544 SOCS6  1 0.556 3
 UniProt:Q8WUX9 CHMP7  2 0.556 3
 UniProt:Q6IAA8 LAMTOR1  5 0.556 3
 UniProt:P38936 CDKN1A  5 0.556 3
 UniProt:Q6NXG1 ESRP1  3 0.556 3
 UniProt:Q06323 PSME1  1 0.556 3
 UniProt:Q00994 BEX3  1 0.556 3
 UniProt:Q99075 HBEGF  8 0.556 3
 UniProt:O43504 LAMTOR5  1 0.556 3
 UniProt:P10809 HSPD1  6 0.556 3
 UniProt:Q9BXU0 TEX12  1 0.556 3
 UniProt:Q9NZH6 IL37  6 0.556 3
 UniProt:Q9H147 DNTTIP1  1 0.556 3
 UniProt:Q8N5V2 NGEF  2 0.556 3
 UniProt:Q04206 RELA  7 0.556 3
 UniProt:Q9UJU6 DBNL  7 0.556 3
 UniProt:P23771 GATA3  2 0.556 3
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