p-8Y-FGFR2c P253R [plasma membrane]

Stable Identifier
R-HSA-2011880
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
p-8Y-FGFR2-1 P253R
Icon
p-8Y-FGFR2c P253R [plasma membrane] icon
p-8Y-FGFR2c P253R [plasma membrane] icon
Locations in the PathwayBrowser
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General
also Apert
Literature References
PubMed ID Title Journal Year
7719344 Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Rutland, P, Pulleyn, LJ, Poole, MD, Oldridge, M, Hockley, AD, Hayward, RD, David, DJ, Wilkie, AO, Slaney, SF, Ashworth, GJ

Nat Genet 1995
14613973 Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity

Eliseenkova, AV, Linhardt, RJ, Zhang, F, Mohammadi, M, Ibrahimi, OA

Hum Mol Genet 2004
18552176 Drug-sensitive FGFR2 mutations in endometrial carcinoma

Akslen, LA, Cibulskis, K, Greulich, H, Dutt, A, Sellers, WR, Chen, TH, Winckler, W, Wyhs, N, Ziaugra, L, Zody, MC, Salvesen, HB, Meyerson, M, Stefansson, IM, Trovik, J, Wong, KK, Ramos, AH, Richter, DJ, Gabriel, S, Nicoletti, R, Onofrio, RC, Grewal, R, Hanna, M, Hatton, C, Engelsen, IB, Fennell, T

Proc Natl Acad Sci U S A 2008
External Reference Information
External Reference
UniProt:P21802-1 FGFR2
Gene Names
FGFR2, BEK, KGFR, KSAM
Participates
as a component of
Other forms of this molecule
FGFR2c S252W [plasma membrane]
FGFR2c P253R [plasma membrane]
FGFR2c A315S [plasma membrane]
FGFR2c A314S [plasma membrane]
FGFR2c A314D [plasma membrane]
FGFR2c A315T [plasma membrane]
FGFR2c W290G [plasma membrane]
FGFR2c Y375C [plasma membrane]
FGFR2c S372C [plasma membrane]
p-8Y-FGFR2c S252W [plasma membrane]
p-8Y-FGFR2c A315S mutant [plasma membrane]
p-8Y-FGFR2c A314S [plasma membrane]
p-8Y-FGFR2c A314D [plasma membrane]
p-8Y-FGFR2c A315T [plasma membrane]
p-8Y-FGFR2c W290G [plasma membrane]
p-8Y-FGFR2c S372C [plasma membrane]
p-8Y-FGFR2c Y375C [plasma membrane]
FGFR2c long [plasma membrane]
p-8Y-FGFR2c long [plasma membrane]
Modified Residues
Name
L-proline 253 replaced with L-arginine
Coordinate
253
PsiMod
L-proline removal [MOD:01645]
A protein modification that effectively removes or replaces an L-proline.
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
Name
O4'-phospho-L-tyrosine at 466
Coordinate
466
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 586
Coordinate
586
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 588
Coordinate
588
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 656
Coordinate
656
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 657
Coordinate
657
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 733
Coordinate
733
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 769
Coordinate
769
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 779
Coordinate
779
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.
Disease
Name Identifier Synonyms
female reproductive endometrioid cancer DOID:3001 endometrioid tumor (morphologic abnormality), endometrioid neoplasm
acrocephalosyndactylia DOID:12960 Apert syndrome
Interactors (30)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P09038 FGF2  1 0.779 5
 UniProt:P51812 RPS6KA3  7 0.745 5
 UniProt:P62993 GRB2  1 0.735 6
 ChEBI:73280 SSR      0.683 8
 UniProt:P05230 FGF1  1 0.675 3
 UniProt:P11362 FGFR1  9 0.623 3
 UniProt:O15520 FGF10  1 0.571 2
 UniProt:P19174 PLCG1  6 0.528 3
 UniProt:Q3MIR4 CC50B      0.527 2
 UniProt:O60637 TSN3      0.527 2
 UniProt:Q96LL9 DJC30      0.527 2
 UniProt:Q6P047 CH074      0.527 2
 UniProt:Q99732 LITAF      0.527 2
 UniProt:Q8N7X8 SIGL1      0.527 2
 UniProt:Q5T9A4 ATAD3B  3 0.527 2
 UniProt:Q96HB5 CC120      0.527 2
 UniProt:Q8IWX8 CHERP  1 0.527 2
 UniProt:Q92551 IP6K1  2 0.527 2
 UniProt:Q6P995 F171B      0.527 2
 UniProt:P34741 SDC2  20 0.527 2
 UniProt:Q92575 UBXN4      0.527 2
 UniProt:Q96L94 SNX22      0.527 2
 UniProt:P01033 TIMP1  4 0.527 2
 UniProt:Q96G30 MRAP2      0.527 2
 UniProt:P55899 FCGRN      0.527 2
 UniProt:Q5TF58 IFFO2      0.527 2
 UniProt:Q06124 PTPN11  4 0.519 2
 UniProt:Q9ULH0 KIDINS220  2 0.483 2
 UniProt:Q9UBH6 S53A1      0.483 2
 UniProt:Q86VI4 LAP4B      0.463 2
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