Reactome | FGFR2 N549H [plasma membrane]

FGFR2 N549H [plasma membrane]

Stable Identifier

R-HSA-2033296

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Literature References

PubMed ID	Title	Journal	Year
11781872	Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis Elanko, N, Rannan-Eliya, S, Muenke, M, Tomkins, S, Reich, EW, Twigg, SR, Zackai, EH, Verloes, A, McDonald-McGinn, DM, Wall, SA, Johnson, D, Cook, J, Kan, SH, Wilkie, AO, Cornejo-Roldan, L	Am J Hum Genet	2002

External Reference Information

External Reference

UniProt:P21802 FGFR2

Gene Names

FGFR2, BEK, KGFR, KSAM

Chain

signal peptide:1-21, chain:22-821

Reference Genes

ENSEMBL:ENSG00000066468 FGFR2

Participates

as a component of

FGFR2 N549H mutant dimer [plasma membrane] (Homo sapiens)

as a member of

FGFR2 mutants with enhanced kinase activity [plasma membrane] (Homo sapiens)

Other forms of this molecule

FGFR2 IIIa TM [extracellular region]

FGFR2 [plasma membrane]

FGFR2(22-767)-CCDC6(102-474) fusion [plasma membrane]

FGFR2(2-822)-CIT(927-2027) fusion [plasma membrane]

FGFR2(22-768)-BICC1(80-974) fusion [plasma membrane]

FGFR2(22-767)-AHCYL1(108-530) fusion [plasma membrane]

FGFR2(22-767)-OFD1(38-1012) fusion [plasma membrane]

FGFR2(22-767)-CASP7(1-303) fusion [plasma membrane]

FGFR2(22-767)-AFF3(292-1226) fusion [plasma membrane]

FGFR2(22-767)-CCAR(51-923) fusion [plasma membrane]

FGFR2 N549K [plasma membrane]

FGFR2 K660N [plasma membrane]

p-8Y-FGFR2 K660M [plasma membrane]

p-8Y-FGFR2 K660E [plasma membrane]

phosphorylated FGFR2 L764Hfs*4 [plasma membrane]

p-8Y-FGFR2 W290C [plasma membrane]

p-8Y-FGFR2 S267P [plasma membrane]

p-8Y-FGFR2 [plasma membrane]

p-8Y-FGFR2 N549K [plasma membrane]

p-8Y-FGFR2 N549H [plasma membrane]

p-8Y-FGFR2 K660N [plasma membrane]

p-6Y-FGFR2(22-767)-CCAR(51-923) fusion [plasma membrane]

p-6Y-FGFR2(22-767)-CASP7(1-303) fusion [plasma membrane]

p-6Y-FGFR2(22-767)-AFF3(292-1226) fusion [plasma membrane]

p-6Y-FGFR2(22-767)-OFD1(38-1012) fusion [plasma membrane]

p-6Y-FGFR2(22-767)-AHCYL1(108-530) fusion [plasma membrane]

p-6Y-FGFR2(2-822)-CIT(927-2027) fusion [plasma membrane]

p-6Y-FGFR2(22-768)-BICC1(80-974) fusion [plasma membrane]

p-6Y-FGFR2(22-767)-CCDC6(102-474) fusion [plasma membrane]

FGFR2 W290C [plasma membrane]

FGFR2 L764Hfs*4 [plasma membrane]

FGFR2 S267P [plasma membrane]

FGFR2 K660E [plasma membrane]

FGFR2 K660M [plasma membrane]

Modified Residues

Name

L-asparagine 549 replaced with L-histidine

Coordinate

549

PsiMod

L-histidine residue [MOD:00018]

A protein modification that effectively converts a source amino acid residue to an L-histidine.

L-asparagine removal [MOD:01633]

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

Disease

Name	Identifier	Synonyms
Crouzon syndrome	DOID:2339	Craniofacial Dysostosis
bone development disease	DOID:0080006

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 [secretory granule membrane] (R-HSA-6801313) ATAD3B [plasma membrane] (R-HSA-6806518) ATAD3B [ficolin-1-rich granule membrane] (R-HSA-6801277)	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: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) XylS-SDC2 [Golgi lumen] (R-HSA-2064109) Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2064132) SDC2 [Golgi lumen] (R-HSA-2054101) Gal-Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2063988) GlcA-Gal-Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2063997) HS(3)-SDC2 [Golgi lumen] (R-HSA-2076443) HS(4)-SDC2 [Golgi lumen] (R-HSA-2076356) HS(2)-SDC2 [Golgi lumen] (R-HSA-2076603) 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)	0.527	2
UniProt:Q92575 UBXN4			0.527	2
UniProt:Q96L94 SNX22			0.527	2
UniProt:P01033 TIMP1	4	TIMP1 [platelet alpha granule lumen] (R-HSA-349745) p-TIMP1 [endoplasmic reticulum lumen] (R-HSA-8957082) TIMP1 [endoplasmic reticulum lumen] (R-HSA-8956691) TIMP1 [extracellular region] (R-HSA-349743)	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	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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