Reactome | FGFR2c W290G [plasma membrane]

FGFR2c W290G [plasma membrane]

Stable Identifier

R-HSA-2029883

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

FGFR2-1 W290G

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Literature References

PubMed ID	Title	Journal	Year
16418739	Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome Bonaventure, J, El Ghouzzi, V, Renier, D, Lajeunie, E, Le Merrer, M, Martinovic, J, Heuertz, S	Eur J Hum Genet	2006
9539778	Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain Galvin, BD, Donoghue, DJ, Hart, KC, Robertson, SC, Webster, MK, Meyer, AN	Proc Natl Acad Sci U S A	1998

External Reference Information

External Reference

UniProt:P21802-1 FGFR2

Gene Names

FGFR2, BEK, KGFR, KSAM

Participates

as a component of

FGFR2c W290G mutant dimer [plasma membrane] (Homo sapiens)

as a member of

FGFR2 ligand-independent mutants [plasma membrane] (Homo sapiens)

Other forms of this molecule

p-8Y-FGFR2c long [plasma membrane]

FGFR2c long [plasma membrane]

p-8Y-FGFR2c Y375C [plasma membrane]

p-8Y-FGFR2c S372C [plasma membrane]

p-8Y-FGFR2c W290G [plasma membrane]

p-8Y-FGFR2c A315T [plasma membrane]

p-8Y-FGFR2c A314D [plasma membrane]

p-8Y-FGFR2c A314S [plasma membrane]

p-8Y-FGFR2c A315S mutant [plasma membrane]

p-8Y-FGFR2c P253R [plasma membrane]

p-8Y-FGFR2c S252W [plasma membrane]

FGFR2c S372C [plasma membrane]

FGFR2c Y375C [plasma membrane]

FGFR2c A315T [plasma membrane]

FGFR2c A314D [plasma membrane]

FGFR2c A314S [plasma membrane]

FGFR2c A315S [plasma membrane]

FGFR2c P253R [plasma membrane]

FGFR2c S252W [plasma membrane]

Modified Residues

Name

L-tryptophan 290 replaced with glycine

Coordinate

290

PsiMod

glycine residue [MOD:00017]

A protein modification that effectively converts a source amino acid residue to a glycine.

L-tryptophan removal [MOD:01648]

A protein modification that effectively removes or replaces an L-tryptophan.

Disease

Name	Identifier	Synonyms
Crouzon syndrome	DOID:2339	Craniofacial Dysostosis
bone development disease	DOID:0080006
Pfeiffer syndrome	DOID:14705	acrocephalosyndactylia type V

Cross References

RefSeq

NP_075418.1, NP_001307583.1, NP_001138388.1, NP_001138389.1, NP_075259.4, NP_001138391.1, NP_001138387.1, NP_001138386.1, NP_001138390.1, NP_001138385.1, NP_000132.3, NP_001307587.1

Guide to Pharmacology - Targets

1809

OpenTargets

ENSG00000066468

ENSEMBL

ENST00000357555, ENSP00000358057, ENST00000682550, ENST00000360144, ENSP00000358056, ENST00000356226, ENST00000369060, ENST00000346997, ENSP00000358052, ENST00000359354, ENST00000358487, ENST00000457416, ENSP00000263451, ENSP00000352309, ENSP00000508257, ENST00000369061, ENSP00000351276, ENSP00000410294, ENSP00000350166, ENSP00000309878, ENST00000683211, ENSG00000066468, ENST00000351936, ENSP00000353262, ENST00000369056, ENSP00000507633, ENSP00000348559

ZINC - FDA approved

FGFR2_HUMAN

ZINC - Substances

FGFR2_HUMAN

ZINC - Biogenic

FGFR2_HUMAN

ZINC target

P21802

PRO

P21802

PDB

8STG, 1IIL, 2FDB, 1E0O, 3RI1, 1GJO, 6AGX, 1EV2, 8E1X, 3CU1, 2PVF, 7KIE, 6LVL, 3B2T, 2PZP, 4J99, 4J98, 1DJS, 4J96, 6V6Q, 2Q0B, 5UGL, 5UGX, 2PVY, 5EG3, 1NUN, 2PY3, 5UHN, 5UI0, 3CLY, 2PZ5, 4WV1, 3CAF, 8H75, 7KIA, 6LVK, 3EUU, 2PZR, 1WVZ, 8U1F, 3OJM, 2PSQ, 3DAR, 7OZY, 4J97, 1II4, 4J95, 8SWE, 3OJ2, 2PWL, 1OEC, 4J23

ZINC - Investigational

FGFR2_HUMAN

IntEnz

2.7.10.1

GeneCards

FGFR2

HPA

ENSG00000066468-FGFR2

Pharos - Targets

P21802

Orphanet

FGFR2

ZINC - Predictions - Purchasable

FGFR2_HUMAN

HMDB Protein

HMDBP01305

Interactors (30)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P09038 FGF2	1	FGF2(10-155) [extracellular region] (R-HSA-189898)	0.779	5
UniProt:P51812 RPS6KA3	7	p-S227,T365,S369,S386,T577,T737-RPS6KA3 [nucleoplasm] (R-HSA-444286) p-T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619989) p-S227,T365,S369,S386,T577,T737-RPS6KA3 [cytosol] (R-HSA-9619872) p-T365,S369,T577-RPS6KA3 [cytosol] (R-HSA-9619959) RPS6KA3 [cytosol] (R-HSA-444250) p-4S,T231,T365-RPS6KA3 [nucleoplasm] (R-HSA-199830) RPS6KA3 [nucleoplasm] (R-HSA-199869)	0.745	5
UniProt:P62993 GRB2	1	GRB2 [cytosol] (R-HSA-8983328)	0.735	6
ChEBI:73280 SSR			0.683	8
UniProt:P05230 FGF1	1	FGF1 [extracellular region] (R-HSA-189856)	0.675	3
UniProt:P11362 FGFR1	9	FGFR1 [plasma membrane] (R-HSA-9756433) p-8Y- FGFR1 R576W [plasma membrane] (R-HSA-2023361) p-8Y-FGFR1 N546K [plasma membrane] (R-HSA-2023358) p-8Y-FGFR1 K656E [plasma membrane] (R-HSA-2023356) p-6Y-FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853142) FGFR1 R576W [plasma membrane] (R-HSA-2011844) FGFR1 N546K [plasma membrane] (R-HSA-1614377) FGFR1 K656E [plasma membrane] (R-HSA-1614373) FGFR1(22-763):TACC1(571-805) fusion [plasma membrane] (R-HSA-8853241)	0.623	3
UniProt:O15520 FGF10	1	FGF10 [extracellular region] (R-HSA-189869)	0.571	2
UniProt:P19174 PLCG1	6	p-4Y-PLCG1 [plasma membrane] (R-HSA-167679) PLCG1 [cytosol] (R-HSA-202320) PLCG1 [plasma membrane] (R-HSA-167682) p-Y771,Y783,Y1254-PLCG1 [cytosol] (R-HSA-202357) p-Y771,Y783-PLCG1 [plasma membrane] (R-HSA-1169084) p-Y-PLCG1 [cytosol] (R-HSA-9029082)	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	ATAD3B [ficolin-1-rich granule membrane] (R-HSA-6801277) ATAD3B [plasma membrane] (R-HSA-6806518) ATAD3B [secretory granule membrane] (R-HSA-6801313)	0.527	2
UniProt:Q96HB5 CC120			0.527	2
UniProt:Q8IWX8 CHERP	1	CHERP [nucleoplasm] (R-HSA-8865901)	0.527	2
UniProt:Q92551 IP6K1	2	IP6K1 [cytosol] (R-HSA-1604591) IP6K1 [nucleoplasm] (R-HSA-2023952)	0.527	2
UniProt:Q6P995 F171B			0.527	2
UniProt:Q92575 UBXN4			0.527	2
UniProt:Q96L94 SNX22			0.527	2
UniProt:Q96G30 MRAP2			0.527	2
UniProt:P55899 FCGRN			0.527	2
UniProt:Q5TF58 IFFO2			0.527	2
UniProt:P01033 TIMP1	4	p-TIMP1 [endoplasmic reticulum lumen] (R-HSA-8957082) TIMP1 [endoplasmic reticulum lumen] (R-HSA-8956691) TIMP1 [extracellular region] (R-HSA-349743) TIMP1 [platelet alpha granule lumen] (R-HSA-349745)	0.527	2
UniProt:P34741 SDC2	20	HS(4)-SDC2 [plasma membrane] (R-HSA-2076683) HS(6)-SDC2 [plasma membrane] (R-HSA-2076661) HS(2)-SDC2 [plasma membrane] (R-HSA-2076644) HS(1)-SDC2 [plasma membrane] (R-HSA-2076643) HS(3)-SDC2 [plasma membrane] (R-HSA-2076631) HS(5)-SDC2 [plasma membrane] (R-HSA-2076665) SDC2 [endoplasmic reticulum lumen] (R-HSA-8956741) p-SDC2 [endoplasmic reticulum lumen] (R-HSA-8956945) SDC2 [Golgi lumen] (R-HSA-2054101) XylS-SDC2 [Golgi lumen] (R-HSA-2064109) Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2064132) Gal-Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2063988) GlcA-Gal-Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2063997) HS(2)-SDC2 [Golgi lumen] (R-HSA-2076603) HS(3)-SDC2 [Golgi lumen] (R-HSA-2076443) HS(1)-SDC2 [Golgi lumen] (R-HSA-2076607) Heparan(4)-SDC2 [Golgi lumen] (R-HSA-2076576) Heparan(3)-SDC2 [Golgi lumen] (R-HSA-2076361) Heparan(2)-SDC2 [Golgi lumen] (R-HSA-2076397) Heparan(1)-SDC2 [Golgi lumen] (R-HSA-2076536)	0.527	2
UniProt:Q06124 PTPN11	4	p-Y542,Y580-PTPN11 [cytosol] (R-HSA-162573) PTPN11 [cytosol] (R-HSA-162563) PTPN11 [nucleoplasm] (R-HSA-8937745) p-Y542-PTPN11 [cytosol] (R-HSA-1369081)	0.519	2
UniProt:Q9ULH0 KIDINS220	2	p-Y1095-KIDINS220 [cytosol] (R-HSA-169869) KIDINS220 [cytosol] (R-HSA-169880)	0.483	2
UniProt:Q9UBH6 S53A1			0.483	2
UniProt:Q86VI4 LAP4B			0.463	2

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