FGFR2c S252W [plasma membrane]

Stable Identifier
R-HSA-2011852
Type
Genes and Transcripts [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
Synonyms
FGFR2-1 S252W mutant
FGFR2c S252W [plasma membrane] icon
Locations in the PathwayBrowser
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
20106510 FGFR2 mutations are rare across histologic subtypes of ovarian cancer

Pollock, PM, Wellens, CL, Campbell, IG, Goodfellow, PJ, Gartside, MG, Birrer, MJ, Byron, SA

Gynecol Oncol 2010
External Reference Information
External Reference
Gene Names
FGFR2, BEK, KGFR, KSAM
Participates
Other forms of this molecule
Modified Residues
Name
L-serine 252 replaced with L-tryptophan
Coordinate
252
PsiMod
A protein modification that effectively converts a source amino acid residue to L-tryptophan.
A protein modification that effectively removes or replaces an L-serine.
Disease
Name Identifier Synonyms
female reproductive endometrioid cancer DOID:3001 endometrioid tumor (morphologic abnormality), endometrioid neoplasm
ovarian cancer DOID:2394 ovarian neoplasm, malignant tumour of ovary, neoplasm of ovary (disorder), ovary neoplasm, primary malignant neoplasm of ovary and other uterine adnexa (disorder), ovarian cancer, tumor of the Ovary, ovary cancer, malignant Ovarian tumor, primary ovarian cancer, malignant tumor of ovary (disorder)
craniosynostosis DOID:2340 Premature closure of cranial sutures
cancer DOID:162 malignant tumor, malignant neoplasm, primary cancer
bone development disease DOID:0080006
acrocephalosyndactylia DOID:12960 Apert syndrome
Cross References
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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