Reactome | FGFR3b S249C [plasma membrane]

FGFR3b S249C [plasma membrane]

Stable Identifier

R-HSA-1226109

Type

Genes and Transcripts [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Synonyms

Fibroblast growth factor receptor 3b S249C, FGR3_HUMAN S249C, FGFR3-2 S249C

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Literature References

PubMed ID	Title	Journal	Year
11605053	Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous cell carcinomas Triratanachat, S, Shotelersuk, K, Shotelersuk, V, Mutirangura, A, Ittiwut, C, Poovorawan, Y	Oncol Rep	2001
19377444	FGFR3 mutations in prostate cancer: association with low-grade tumors Lloreta, J, Esgueva, R, Serrano, S, Lorente, JA, Hernández, S, Mojal, S, de Muga, S, Agell, L, Juanpere, N	Mod Pathol	2009
8589699	Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I Cohn, DH, Wasmuth, JJ, Shiang, R, Rimoin, DL, Zhu, YZ, Tavormina, PL	Hum Mol Genet	1995
10471491	Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas Sastre-Garau, X, de Medina, S, Chopin, D, Radvanyi, F, Bourdin, J, Thiery, JP, Ricol, D, Cappellen, D, De Oliveira, C	Nat Genet	1999

External Reference Information

External Reference

UniProt:P22607-2 FGFR3

Gene Names

FGFR3, JTK4

Other Identifiers

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:0003824

GO:0004672

GO:0004713

GO:0004714

GO:0005007

GO:0005515

GO:0005524

GO:0005576

GO:0005783

GO:0005794

GO:0005886

GO:0005925

GO:0006468

GO:0006915

GO:0007169

GO:0007259

GO:0007267

GO:0008284

GO:0008543

GO:0009986

GO:0010518

GO:0012501

GO:0016020

GO:0016301

GO:0016310

GO:0016740

GO:0017134

GO:0023052

GO:0030133

GO:0030154

GO:0030282

GO:0031410

GO:0035988

GO:0036211

GO:0042531

GO:0042802

GO:0043226

GO:0043235

GO:0043410

GO:0048640

GO:0048856

GO:0051897

GO:0060089

GO:0060349

GO:0070374

GO:0070977

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 cysteine mutants [plasma membrane] (Homo sapiens)

as a component of

FGFR3b S249C mutant dimer [plasma membrane] (Homo sapiens)

Other forms of this molecule

FGFR3b G697C [plasma membrane]

p-6Y-FGFR3b S249C mutant [plasma membrane]

p-6Y-FGFR3b G697C [plasma membrane]

FGFR3b [plasma membrane]

p-6Y-FGFR3b [plasma membrane]

Modified Residues

Name

L-serine 249 replaced with L-cysteine

Coordinate

249

PsiMod

L-serine removal [MOD:01646]

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

L-cysteine residue [MOD:00014]

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

Disease

Name	Identifier	Synonyms
bladder carcinoma	DOID:4007	carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
cervical cancer	DOID:4362	neoplasm of uterine cervix (disorder), tumor of the Cervix Uteri, cervix uteri cancer, cervical neoplasm, cervix cancer
cancer	DOID:162	malignant tumor, malignant neoplasm, primary cancer
head and neck squamous cell carcinoma	DOID:5520	carcinoma of the head and neck, squamous cell carcinoma of the head and neck
bone development disease	DOID:0080006
prostate cancer	DOID:10283	NGP - New growth of prostate, neoplasm of prostate (disorder), tumor of the prostate, malignant tumor of prostate (disorder), prostate neoplasm, malignant tumor of the prostate, malignant tumor of prostate (disorder), prostatic cancer, prostatic neoplasm
thanatophoric dysplasia	DOID:13481

Cross References

RefSeq

NP_000133.1, NP_001156685.1, NP_075254.1

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

8UDT, 8UDU, 6LVM, 8UDV, 7DHL, 6PNX, 1RY7, 7YSU, 4K33, 2LZL

ZINC - Investigational

FGFR3_HUMAN

COSMIC

COSV53390026, COSM29427

GeneCards

P22607

HPA

ENSG00000068078-FGFR3

Ensembl

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

Pharos - Targets

P22607

Orphanet

16047

ZINC - Predictions - Purchasable

FGFR3_HUMAN

Interactors (51)

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: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:Q13573 SNW1	1	SNW1 [nucleoplasm] (R-HSA-351663)	0.556	3
UniProt:Q96EZ8 MCRS1	1	MCRS1 [nucleoplasm] (R-HSA-3321849)	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:O14641 DVL2	5	DVL2 [cytosol] (R-HSA-201694) p-DVL2 [cytosol] (R-HSA-201706) pp-DVL2 [cytosol] (R-HSA-3772398) ub-DVL2 [cytosol] (R-HSA-4652689) p-DVL2 [clathrin-coated endocytic vesicle] (R-HSA-5138444)	0.556	3
UniProt:Q6N021 TET2	1	TET2 [nucleoplasm] (R-HSA-5221011)	0.556	3
UniProt:Q15814 TBCC	1	TBCC [cytosol] (R-HSA-379537)	0.556	3
UniProt:A0AVK6 E2F8	1	E2F8 [nucleoplasm] (R-HSA-8952990)	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:Q9UJU6 DBNL	7	DBNL [tertiary granule lumen] (R-HSA-6801516) DBNL [secretory granule lumen] (R-HSA-6801520) 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)	0.556	3
UniProt:O14544 SOCS6	1	SOCS6 [cytosol] (R-HSA-1469969)	0.556	3
UniProt:Q04206 RELA	6	MeK310-RELA [nucleoplasm] (R-HSA-8865233) polySUMO3-K37,K122,K123-RELA [nucleoplasm] (R-HSA-4755466) 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:Q9BVC3 DSCC1	1	DSCC1 [nucleoplasm] (R-HSA-9668907)	0.556	3
UniProt:Q6IAA8 LAMTOR1	5	LAMTOR1 [specific granule membrane] (R-HSA-6799631) LAMTOR1 [lysosomal membrane] (R-HSA-5653582) LAMTOR1 [ficolin-1-rich granule membrane] (R-HSA-6801003) LAMTOR1 [plasma membrane] (R-HSA-6806270) LAMTOR1 [azurophil granule membrane] (R-HSA-6799633)	0.556	3
UniProt:Q9NZH6 IL37	6	IL37(?-218) [nucleoplasm] (R-HSA-9008702) IL37 [extracellular region] (R-HSA-8848334) IL37(?-218) [extracellular region] (R-HSA-9008607) IL37 [cytosol] (R-HSA-9008596) IL37(?-218) [cytosol] (R-HSA-9008584) IL37(1-?) [cytosol] (R-HSA-9008602)	0.556	3
UniProt:Q99743 NPAS2	2	NPAS2 [cytosol] (R-HSA-400314) p-S-NPAS2 [nucleoplasm] (R-HSA-421309)	0.556	3
UniProt:P17275 JUNB	1	JUNB [nucleoplasm] (R-HSA-2186795)	0.556	3
UniProt:Q9UBX5 FBLN5	1	FBLN5 [extracellular region] (R-HSA-2161278)	0.556	3
UniProt:O43504 LAMTOR5	1	LAMTOR5 [lysosomal membrane] (R-HSA-5655441)	0.556	3
UniProt:P01106 MYC	2	PolyUb-MYC [nucleoplasm] (R-HSA-6783169) MYC [nucleoplasm] (R-HSA-188379)	0.556	3
UniProt:Q8WUX9 CHMP7	2	CHMP7 [cytosol] (R-HSA-917703) CHMP7 [endosome membrane] (R-HSA-9631168)	0.556	3
UniProt:Q07869 PPARA	2	monoSUMO1-K185-PPARA [nucleoplasm] (R-HSA-4341099) PPARA [nucleoplasm] (R-HSA-400186)	0.556	3
UniProt:Q13352 ITGB3BP	2	ITGB3BP [cytosol] (R-HSA-3006405) ITGB3BP [nucleoplasm] (R-HSA-606325)	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:Q06547-3 GABPB1	1	NRF2 gamma-1 subunit [nucleoplasm] (R-HSA-1592216)	0.556	3
UniProt:Q9BXU0 TEX12	1	TEX12 [nucleoplasm] (R-HSA-912441)	0.556	3
UniProt:Q9UKV8 AGO2	2	AGO2 [nucleoplasm] (R-HSA-5578701) AGO2 [cytosol] (R-HSA-209723)	0.556	3
UniProt:P23771 GATA3	2	GATA3 [nucleoplasm] (R-HSA-996768) PolyUb-GATA3 [nucleoplasm] (R-HSA-6783009)	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:P22415 USF1	2	USF1 [nucleoplasm] (R-HSA-9023562) pT153 USF1 [nucleoplasm] (R-HSA-9855887)	0.556	3
UniProt:Q96T60 PNKP	1	PNKP [nucleoplasm] (R-HSA-5649651)	0.556	3
UniProt:Q16621 NFE2	1	NFE2 [nucleoplasm] (R-HSA-1008221)	0.556	3
UniProt:P41134 ID1	1	ID1 [nucleoplasm] (R-HSA-2534101)	0.556	3
UniProt:P62244 RPS15A	2	RPS15A [nucleoplasm] (R-HSA-6791191) RPS15A [cytosol] (R-HSA-72345)	0.556	3
UniProt:Q86WV5 TEN1	1	TEN1 [nucleoplasm] (R-HSA-9668823)	0.556	3
UniProt:Q00994 BEX3	1	NGFRAP1 [cytosol] (R-HSA-194333)	0.556	3
UniProt:P55318 FOXA3	1	FOXA3 [nucleoplasm] (R-HSA-211484)	0.556	3
UniProt:Q06547-2 GABPB1	1	NRF2 beta-2 subunit [nucleoplasm] (R-HSA-1592200)	0.556	3
UniProt:Q7Z7J5 DPPA2	1	DPPA2 [nucleoplasm] (R-HSA-9816401)	0.556	3
UniProt:Q6NXG1 ESRP1	3	ESRP1(1-606)-RAF1(227-648) fusion [cytosol] (R-HSA-6802312) ESRP1 [nucleoplasm] (R-HSA-6803472) ESRP1(1-606)-p-RAF1(227-648) fusion [cytosol] (R-HSA-6802523)	0.556	3
UniProt:Q8N3R9 MPP5	2	MPP5 [endoplasmic reticulum-Golgi intermediate compartment membrane] (R-HSA-9689606) MPP5 [plasma membrane] (R-HSA-419969)	0.556	3
UniProt:P62333 PSMC6	2	PSMC6 [nucleoplasm] (R-HSA-174319) PSMC6 [cytosol] (R-HSA-68783)	0.556	3
UniProt:Q8N5V2 NGEF	2	NGEF [cytosol] (R-HSA-3006800) p-Y179-NGEF [cytosol] (R-HSA-3928441)	0.556	3
UniProt:P10809 HSPD1	6	HSPD1 [mitochondrial matrix] (R-HSA-1299448) HSPD1(1-573) [cytosol] (R-HSA-1267989) HSPD1(1-573) [mitochondrial intermembrane space] (R-HSA-1267963) HSPD1 [mitochondrial inner membrane] (R-HSA-1299455) HSPD1(1-573) [mitochondrial inner membrane] (R-HSA-1299442) HSPD1(1-26) [mitochondrial matrix] (R-HSA-8986171)	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:Q9Y2Y0 ARL2BP	2	ARL2BP [cytosol] (R-HSA-5215982) ARL2BP [mitochondrial matrix] (R-HSA-5250220)	0.556	3
UniProt:P19388 POLR2E	2	POLR2E [nucleoplasm] (R-HSA-83713) POLR2E [cytosol] (R-HSA-1964438)	0.556	3
UniProt:Q9H2A9 CHST8	1	CHST8 [Golgi membrane] (R-HSA-6786024)	0.556	3
UniProt:P22692 IGFBP4	5	IGFBP4 [extracellular region] (R-HSA-381421) IGFBP4(157-237) [extracellular region] (R-HSA-381510) IGFBP4(22-156) [extracellular region] (R-HSA-381516) IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8956754) p-IGFBP4 [endoplasmic reticulum lumen] (R-HSA-8957038)	0.556	3

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