Reactome | FGFR2 N549H [plasma membrane]

FGFR2 N549H [plasma membrane]

Stable Identifier

R-HSA-2033296

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Icon

Locations in the PathwayBrowser

Expand all

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 Kan, SH, Elanko, N, Johnson, D, Cornejo-Roldan, L, Cook, J, Reich, EW, Tomkins, S, Verloes, A, Twigg, SR, Rannan-Eliya, S, McDonald-McGinn, DM, Zackai, EH, Wall, SA, Muenke, M, Wilkie, AO	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

BioGPS Gene:2263 FGFR2

COSMIC (genes):FGFR2 FGFR2

CTD Gene:2263 FGFR2

dbSNP Gene:2263 FGFR2

ENSEMBL:ENSG00000066468 FGFR2

HGNC:3689 FGFR2

KEGG:hsa:2263 FGFR2

Monarch:2263 FGFR2

NCBI Gene:2263 FGFR2

OMIM:176943 FGFR2

UCSC:P21802 FGFR2

Reference Transcript

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

Cross References

RefSeq

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

ZINC - World Drugs

FGFR2_HUMAN

Guide to Pharmacology - Targets

1809

OpenTargets

ENSG00000066468

ENSEMBL

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

Mondo

0007405

ZINC - FDA approved

FGFR2_HUMAN

ZINC - Substances

FGFR2_HUMAN

ZINC - Biogenic

FGFR2_HUMAN

ZINC target

P21802

PRO

P21802

PDB

4J98, 4J96, 6V6Q, 7KIA, 6LVK, 8U1F, 3EUU, 2PZR, 1WVZ, 1DJS, 4J99, 2PVY, 1OEC, 2FDB, 4J23, 2Q0B, 5UGL, 5UGX, 8W2X, 3RI1, 1IIL, 5UI0, 2PZ5, 3CLY, 5EG3, 4WV1, 8STG, 8W3D, 3CAF, 8H75, 1NUN, 1EV2, 4J97, 6LVL, 7KIE, 3B2T, 3DAR, 2PZP, 3OJM, 2PSQ, 7OZY, 2PY3, 4J95, 8SWE, 3OJ2, 2PWL, 5UHN, 8W38, 1GJO, 6AGX, 8W3B, 1E0O, 3CU1, 8E1X, 1II4, 2PVF

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 (31)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P09038 FGF2	1	FGF2(143-288) [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:P06734 FCER2	1	FCER2(1-321) [plasma membrane] (R-HSA-2127280)	0.558	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: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:P34741 SDC2	20	SDC2 [plasma membrane] (R-HSA-2090052) 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) Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2064132) Gal-Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2063988) XylS-SDC2 [Golgi lumen] (R-HSA-2064109) SDC2 [Golgi lumen] (R-HSA-2054101) GlcA-Gal-Gal-Xyl-SDC2 [Golgi lumen] (R-HSA-2063997) HS(5)-SDC2 [Golgi lumen] (R-HSA-2076320) HS(6)-SDC2 [Golgi lumen] (R-HSA-2076588) HS(4)-SDC2 [Golgi lumen] (R-HSA-2076356) HS(3)-SDC2 [Golgi lumen] (R-HSA-2076443) HS(2)-SDC2 [Golgi lumen] (R-HSA-2076603) HS(1)-SDC2 [Golgi lumen] (R-HSA-2076607)	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: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

Cite Us!