Reactome | FGFR3 805fs*141 [plasma membrane]

FGFR3 805fs*141 [plasma membrane]

Stable Identifier

R-HSA-1614387

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

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Literature References

PubMed ID	Title	Journal	Year
7647778	Stop codon FGFR3 mutations in thanatophoric dwarfism type 1 Bonaventure, J, Munnich, A, Narcy, F, Rousseau, F, Sanak, M, Saugier, P, Le Merrer, M, Delezoide, AL, Maroteaux, P	Nat Genet	1995
11157491	Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma Mesri, EA, Kuehl, WM, Ely, SA, Chesi, M, Brents, LA, Bergsagel, PL, Bais, C, Robbiani, DF	Blood	2001

External Reference Information

External Reference

UniProt:P22607 FGFR3

Gene Names

FGFR3, JTK4

Chain

signal peptide:1-22, chain:23-806

Reference Genes

BioGPS Gene:2261 FGFR3

COSMIC (genes):FGFR3 FGFR3

CTD Gene:2261 FGFR3

dbSNP Gene:2261 FGFR3

ENSEMBL:ENSG00000068078.20 FGFR3

HGNC:3690 FGFR3

KEGG Gene (Homo sapiens):2261 FGFR3

Monarch:2261 FGFR3

NCBI Gene:2261 FGFR3

OMIM:134934 FGFR3

UCSC:P22607 FGFR3

Reference Transcript

Other Identifiers

0002940050

0003850722

11717969_a_at

11755786_a_at

16964027

204379_PM_s_at

204379_s_at

204380_PM_s_at

204380_s_at

2261

2715017

2715018

2715019

2715026

2715027

2715028

2715029

2715030

2715031

2715032

2715033

2715039

2715040

2715041

2715042

2715043

2715045

2715046

2715047

2715048

2715049

2715051

2715053

2715054

2715056

2715057

2715058

31805_at

8093518

A_14_P132738

A_23_P212830

A_23_P500501

GE577766

GE58034

GO:0000165

GO:0000166

GO:0001501

GO:0001958

GO:0002062

GO:0003416

GO:0004672

GO:0004713

GO:0004714

GO:0005007

GO:0005515

GO:0005524

GO:0005576

GO:0005622

GO:0005634

GO:0005737

GO:0005783

GO:0005794

GO:0005886

GO:0005887

GO:0005925

GO:0006468

GO:0006629

GO:0006915

GO:0007169

GO:0007267

GO:0008284

GO:0008543

GO:0009986

GO:0010518

GO:0012501

GO:0016020

GO:0016021

GO:0016301

GO:0016310

GO:0016740

GO:0017134

GO:0018108

GO:0023052

GO:0030133

GO:0030154

GO:0030282

GO:0031410

GO:0032991

GO:0033674

GO:0035988

GO:0036211

GO:0042531

GO:0042802

GO:0043226

GO:0043235

GO:0043410

GO:0043552

GO:0046777

GO:0048640

GO:0048856

GO:0060089

GO:0060349

GO:0070374

GO:0070977

GO:0071495

GO:0140096

GO:1902178

HMNXSV003038877

ILMN_1651966

ILMN_1723123

M64347_at

TC04000029.hg

TC04001856.hg

g13112046_3p_a_at

g182568_3p_a_at

Participates

as a member of

FGFR3 (4;14) translocation mutants [plasma membrane] (Homo sapiens)

as a component of

FGFR3 795fs*139STOP mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]

FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]

FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]

FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]

FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]

FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]

FGFR3 K650T [plasma membrane]

FGFR3 K650N [plasma membrane]

FGFR3 K650M [plasma membrane]

FGFR3 K650Q [plasma membrane]

FGFR3 A391E [plasma membrane]

FGFR3 K650E [plasma membrane]

FGFR3 G380R [plasma membrane]

FGFR3 G382D [plasma membrane]

FGFR3 [plasma membrane]

FGFR3 S371C [plasma membrane]

FGFR3 Y373C [plasma membrane]

FGFR3 G370C [plasma membrane]

FGFR3 R248C [plasma membrane]

p-6Y-FGFR3 S371C [plasma membrane]

p-6Y-FGFR3 G370C [plasma membrane]

p-4Y FGFR3(23-760)-TACC3(612-838) fusion [plasma membrane]

p-4Y FGFR3(23-760)-TACC3(647-838) fusion [plasma membrane]

p-4Y FGFR3(23-793)-TACC3(143-838) fusion [plasma membrane]

p-4Y FGFR3(23-758)-TACC3(549-838) fusion [plasma membrane]

p-4Y FGFR3(23-758)-TACC3(649-838) fusion [plasma membrane]

p-4Y FGFR3(23-760)-BAIAP2L1(18-522) fusion [plasma membrane]

p-6Y-FGFR3 Y373C [plasma membrane]

p-6Y-FGFR3 805fs*141 [plasma membrane]

p-6Y-FGFR3 R248C [plasma membrane]

pY-FGFR3 [plasma membrane]

p-6Y-FGFR3 K650Q [plasma membrane]

p-6Y-FGFR3 K650N [plasma membrane]

p-6Y-FGFR3 K650E [plasma membrane]

p-6Y-FGFR3 K650M [plasma membrane]

p-6Y-FGFR3 G380R [plasma membrane]

p-6Y-FGFR3 G382D [plasma membrane]

p-6Y-FGFR3 K650T [plasma membrane]

p-6Y-FGFR3 A391E [plasma membrane]

Modified Residues

Name

Replacement of residues 806 to 806 by TRATGPQQCEGSLAAHPAAGAQPLPGMRLSADGETATQSFGLCVCVCVCVCVCTSACACVRAHLASRCRGTLGVPAAVQRSPDWCCSTEGPLGWGDPVQNVSGPTRWDPRGAGSWARHGSGLCLCTTGHHRVGLGPSHTQS

Disease

Name	Identifier	Synonyms
multiple myeloma	DOID:9538
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
bone development disease	DOID:0080006
thanatophoric dysplasia	DOID:13481

Cross References

RefSeq

NP_075254.1, NP_000133.1, NP_001156685.1

ZINC - World Drugs

FGFR3_HUMAN

Guide to Pharmacology - Targets

1810

OpenTargets

ENSG00000068078

ZINC - FDA approved

FGFR3_HUMAN

ZINC - Substances

FGFR3_HUMAN

ZINC target

P22607

ZINC - Biogenic

FGFR3_HUMAN

PRO

P22607

PDB

4K33, 7DHL, 6LVM, 6PNX, 2LZL, 1RY7

ZINC - Investigational

FGFR3_HUMAN

GeneCards

P22607

HPA

ENSG00000068078-FGFR3

Ensembl

ENST00000440486, ENSP00000414914, ENST00000352904, ENSG00000068078, ENSP00000231803, ENST00000340107, ENSP00000339824

Pharos - Targets

P22607

Orphanet

16047

ZINC - Predictions - Purchasable

FGFR3_HUMAN

HMDB Protein

HMDBP01362

Interactors (46)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P08238 HSP90AB1	6	HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [nucleoplasm] (R-HSA-5082399) HSP90AB1 [lysosomal lumen] (R-HSA-9622846)	0.667	4
UniProt:O95674 CDS2	1	CDS2 [mitochondrial inner membrane] (R-HSA-1498755)	0.659	4
UniProt:Q99743 NPAS2	2	NPAS2 [cytosol] (R-HSA-400314) p-S-NPAS2 [nucleoplasm] (R-HSA-421309)	0.556	3
UniProt:O15534 PER1	4	p-S-PER1 [cytosol] (R-HSA-400310) p-S-PER1 [nucleoplasm] (R-HSA-3325590) PER1 [cytosol] (R-HSA-400373) Ub-p-S-PER1 [cytosol] (R-HSA-517831)	0.556	3
UniProt:Q9Y2Y0 ARL2BP	2	ARL2BP [cytosol] (R-HSA-5215982) ARL2BP [mitochondrial matrix] (R-HSA-5250220)	0.556	3
UniProt:Q04206 RELA	6	polySUMO3-K37,K122,K123-RELA [nucleoplasm] (R-HSA-4755466) MeK310-RELA [nucleoplasm] (R-HSA-8865233) p-S276,5xAcK-RELA [nucleoplasm] (R-HSA-5660642) p-S276-RELA [nucleoplasm] (R-HSA-5624468) RELA [cytosol] (R-HSA-168172) RELA [nucleoplasm] (R-HSA-177676)	0.556	3
UniProt:Q9NZH6 IL37	6	IL37(?-218) [nucleoplasm] (R-HSA-9008702) IL37(1-?) [cytosol] (R-HSA-9008602) IL37(?-218) [extracellular region] (R-HSA-9008607) IL37 [extracellular region] (R-HSA-8848334) IL37(?-218) [cytosol] (R-HSA-9008584) IL37 [cytosol] (R-HSA-9008596)	0.556	3
UniProt:Q8N5V2 NGEF	2	p-Y179-NGEF [cytosol] (R-HSA-3928441) NGEF [cytosol] (R-HSA-3006800)	0.556	3
UniProt:P62333 PSMC6	2	PSMC6 [nucleoplasm] (R-HSA-174319) PSMC6 [cytosol] (R-HSA-68783)	0.556	3
UniProt:P62244 RPS15A	2	RPS15A [nucleoplasm] (R-HSA-6791191) RPS15A [cytosol] (R-HSA-72345)	0.556	3
UniProt:Q9UJU6 DBNL	7	DBNL [tertiary granule lumen] (R-HSA-6801516) DBNL [cytosol] (R-HSA-202880) DBNL(362-431) [cytosol] (R-HSA-202933) DBNL(1-361) [cytosol] (R-HSA-202925) DBNL [ficolin-1-rich granule lumen] (R-HSA-6801510) DBNL [extracellular region] (R-HSA-6801604) DBNL [secretory granule lumen] (R-HSA-6801520)	0.556	3
UniProt:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.556	3
UniProt:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	0.556	3
UniProt:P10809 HSPD1	6	HSPD1(1-573) [cytosol] (R-HSA-1267989) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963) HSPD1(1-26) [mitochondrial matrix] (R-HSA-8986171) HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1 [mitochondrial matrix] (R-HSA-1299448)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	0.556	3
UniProt:A0AVK6 E2F8	1	E2F8 [nucleoplasm] (R-HSA-8952990)	0.556	3
UniProt:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:Q07869 PPARA	2	monoSUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099) PPARA [nucleoplasm] (R-HSA-400186)	0.556	3
UniProt:Q06547-2 GABPB1	1	NRF2 beta-2 subunit [nucleoplasm] (R-HSA-1592200)	0.556	3
UniProt:P22692 IGFBP4	5	IGFBP4 [extracellular region] (R-HSA-381421) IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8956754) p-IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8957038) IGFBP4(157-237) [extracellular region] (R-HSA-381510) IGFBP4(22-156) [extracellular region] (R-HSA-381516)	0.556	3
UniProt:Q6NXG1 ESRP1	3	ESRP1 [nucleoplasm] (R-HSA-6803472) ESRP1(1-606)-p-RAF1(227-648) fusion [cytosol] (R-HSA-6802523) ESRP1(1-606)-RAF1(227-648) fusion [cytosol] (R-HSA-6802312)	0.556	3
UniProt:P05412 JUN	4	JUN [nucleoplasm] (R-HSA-450250) p-S63,S73-JUN [nucleoplasm] (R-HSA-450237) JUN [cytosol] (R-HSA-168194) p-S63,S73-JUN [cytosol] (R-HSA-8868682)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3
UniProt:P24941 CDK2	5	p-Y15-CDK2 [nucleoplasm] (R-HSA-187905) p-CDK2 [nucleoplasm] (R-HSA-68370) CDK2 [cytosol] (R-HSA-157440) CDK2 [nucleoplasm] (R-HSA-68365) p-T160-CDK2 [nucleoplasm] (R-HSA-187967)	0.556	3
UniProt:P01106 MYC	2	MYC [nucleoplasm] (R-HSA-188379) PolyUb-MYC [nucleoplasm] (R-HSA-6783169)	0.556	3
UniProt:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [cytosol] (R-HSA-917703) CHMP7 [endosome membrane] (R-HSA-9631168)	0.556	3
UniProt:Q86WV5 TEN1	1	TEN1 [nucleoplasm] (R-HSA-9668823)	0.556	3
UniProt:P38936 CDKN1A	5	p-T145-CDKN1A [cytosol] (R-HSA-198614) p-Y77-CDKN1A [cytosol] (R-HSA-8942601) CDKN1A [cytosol] (R-HSA-182512) CDKN1A [nucleoplasm] (R-HSA-182585) p-S130-CDKN1A [nucleoplasm] (R-HSA-187857)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	0.556	3
UniProt:Q9GZQ8 MAP1LC3B	3	MAP1LC3B [autophagosome membrane] (R-HSA-5683641) MAP1LC3B(2-121) [cytosol] (R-HSA-5682674) MAP1LC3B [cytosol] (R-HSA-5205651)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:Q8N3R9 PALS1	2	MPP5 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9689606) MPP5 [plasma membrane] (R-HSA-419969)	0.556	3
UniProt:Q99075 HBEGF	8	HBEGF(63-148) [clathrin-coated endocytic vesicle membrane] (R-HSA-9628819) HBEGF(20-208) [clathrin-coated endocytic vesicle membrane] (R-HSA-5334782) HBEGF(20-208) [endocytic vesicle membrane] (R-HSA-5334776) HB-EGF(161-208) [plasma membrane] (R-HSA-9624270) HBEGF(20-62) [extracellular region] (R-HSA-2179390) HBEGF(149-208) [extracellular region] (R-HSA-2179391) HBEGF(20-208) [plasma membrane] (R-HSA-2179406) HBEGF(63-148) [extracellular region] (R-HSA-1233234)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	0.556	3
UniProt:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	0.556	3
UniProt:P55318 FOXA3	1	FOXA3 [nucleoplasm] (R-HSA-211484)	0.556	3
UniProt:P22415 USF1	1	USF1 [nucleoplasm] (R-HSA-9023562)	0.556	3
UniProt:Q13352 ITGB3BP	2	ITGB3BP [cytosol] (R-HSA-3006405) ITGB3BP [nucleoplasm] (R-HSA-606325)	0.556	3
UniProt:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	0.556	3
UniProt:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.556	3
UniProt:P19388 POLR2E	2	POLR2E [nucleoplasm] (R-HSA-83713) POLR2E [cytosol] (R-HSA-1964438)	0.556	3
UniProt:O14641 DVL2	5	pp-DVL2 [cytosol] (R-HSA-3772398) p-DVL2 [cytosol] (R-HSA-201706) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444) DVL2 [cytosol] (R-HSA-201694) ub-DVL2 [cytosol] (R-HSA-4652689)	0.556	3
UniProt:Q6IAA8 LAMTOR1	5	LAMTOR1 [lysosomal membrane] (R-HSA-5653582) LAMTOR1 [azurophil granule membrane] (R-HSA-6799633) LAMTOR1 [plasma membrane] (R-HSA-6806270) LAMTOR1 [ficolin-1-rich granule membrane] (R-HSA-6801003) LAMTOR1 [specific granule membrane] (R-HSA-6799631)	0.556	3
UniProt:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	0.556	3

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