Reactome | FGFR2c A315S [plasma membrane]

FGFR2c A315S [plasma membrane]

Stable Identifier

R-HSA-2071931

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

FGFR2-1 A315S

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Disease (Homo sapiens)

- Diseases of signal transduction by growth factor receptors and second messengers (Homo sapiens)
  - Signaling by FGFR in disease (Homo sapiens)
    - Signaling by FGFR2 in disease (Homo sapiens)
      - FGFR2 mutant receptor activation (Homo sapiens)
        
        Activated point mutants of FGFR2 (Homo sapiens)
        
        Autocatalytic phosphorylation of FGFR2c mutants with enhanced ligand binding (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S [plasma membrane] (Homo sapiens)
        
        FGFR2c mutants bind an expanded range of ligands (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S [plasma membrane] (Homo sapiens)
        
        FGFR2c mutants with enhanced ligand binding [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S [plasma membrane] (Homo sapiens)
        
        Point mutants of FGFR2 bind and are inactivated by tyrosine kinase inhibitors (Homo sapiens)
        
        FGFR2 point mutant dimers [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S [plasma membrane] (Homo sapiens)
        
        FGFR2 point mutant dimers:TKIs [plasma membrane] (Homo sapiens)
        
        FGFR2 point mutant dimers [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding bound to FGFs [plasma membrane] (Homo sapiens)
        
        FGFR2c mutant dimers with enhanced ligand-binding [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S mutant dimer [plasma membrane] (Homo sapiens)
        
        FGFR2c A315S [plasma membrane] (Homo sapiens)

Literature References

PubMed ID	Title	Journal	Year
12357470	FGFs, their receptors, and human limb malformations: clinical and molecular correlations Hamel, BC, Patey, SJ, Kan, SH, Wilkie, AO, van den Ouweland, AM	Am J Med Genet	2002
15282208	Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities Eliseenkova, AV, Linhardt, RJ, Itoh, N, Zhang, F, Mohammadi, M, Ibrahimi, OA	Hum Mol Genet	2004

External Reference Information

External Reference

UniProt:P21802-1 FGFR2

Gene Names

FGFR2, BEK, KGFR, KSAM

Participates

as a member of

FGFR2c mutants with enhanced ligand binding [plasma membrane] (Homo sapiens)

as a component of

FGFR2c A315S mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

FGFR2c S252W [plasma membrane]

FGFR2c P253R [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 P253R [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-alanine 315 replaced with L-serine

Coordinate

315

PsiMod

L-serine residue [MOD:00025]

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

L-alanine removal [MOD:01631]

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

Disease

Name	Identifier	Synonyms
bone development disease	DOID:0080006
syndactyly	DOID:11193	Symphalangism, Symphalangy (disorder), (Polysyndactyly) or (symphalangism) or (syndactyly NOS), Webbing of digits

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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