Reactome | FGFR3 R248C [plasma membrane]

FGFR3 R248C

Stable Identifier

R-HSA-1614419

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

plasma membrane

Locations in the PathwayBrowser

Expand all

Literature References

PubMed ID	Title	Journal	Year
7773297	Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3	Nat Genet	1995
8845844	Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)	Hum Mol Genet	1996
8589699	Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I	Hum Mol Genet	1995
11529856	Analysis of FGFR3 gene mutations in multiple myeloma patients with t(4;14)	Br J Haematol	2001
12368157	Novel mutation and RNA splice variant of fibroblast growth factor receptor 3 in multiple myeloma patients at diagnosis	Haematologica	2002
19327639	Identification of novel fibroblast growth factor receptor 3 gene mutations in actinic cheilitis and squamous cell carcinoma of the lip	Oral Surg Oral Med Oral Pathol Oral Radiol Endod	2009
10471491	Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas	Nat Genet	1999

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 FGFR3

HGNC:3690 FGFR3

KEGG Gene (Homo sapiens):hsa: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

1RY7

204379_s_at

204380_s_at

2261

2LZL

31805_at

4231

4K33

67204

8093518

A_14_P132738

A_23_P212830

A_23_P500501

AAA52450

AAA58470

AAA63209

AAA67781

AAB33323

AAF63380

AAU89726

AB209441

AC016773

AF245114

AY768549

BAD92678

CAA59334

CAB004231

CCDS3353

CCDS3354

CCDS54706

CH471131

EAW82564

EAW82565

EAW82566

EAW82567

ENSG00000068078

ENSP00000231803

ENSP00000260795

ENSP00000339824

ENSP00000412903

ENSP00000414914

ENST00000260795

ENST00000340107

ENST00000352904

ENST00000412135

ENST00000440486

EntrezGene:2261

FGFR3

FGFR3-201

FGFR3-202

FGFR3-203

FGFR3-204

FGFR3-205

g13112046_3p_a_at

GE58034

GO:0000165

GO:0000166

GO:0001501

GO:0001958

GO:0002062

GO:0003416

GO:0003674

GO:0004672

GO:0004713

GO:0004714

GO:0004871

GO:0005007

GO:0005088

GO:0005515

GO:0005524

GO:0005575

GO:0005576

GO:0005622

GO:0005623

GO:0005634

GO:0005737

GO:0005783

GO:0005794

GO:0005886

GO:0005887

GO:0005925

GO:0006464

GO:0006468

GO:0006629

GO:0006915

GO:0007165

GO:0007259

GO:0007267

GO:0008150

GO:0008219

GO:0008283

GO:0008284

GO:0008543

GO:0009058

GO:0009986

GO:0010518

GO:0014066

GO:0016020

GO:0016021

GO:0016301

GO:0016303

GO:0016310

GO:0016740

GO:0017134

GO:0018108

GO:0019899

GO:0021700

GO:0030133

GO:0030154

GO:0030282

GO:0031410

GO:0035988

GO:0036092

GO:0038111

GO:0040007

GO:0042531

GO:0043167

GO:0043226

GO:0043410

GO:0043547

GO:0043552

GO:0046777

GO:0046854

GO:0046934

GO:0048015

GO:0048640

GO:0048856

GO:0060349

GO:0070374

GO:0070977

GO:1902178

HGNC:3690

HPA067204

Hs.1420

I6LM06

ILMN_1651966

ILMN_1723123

IPR000719

IPR001245

IPR003598

IPR003599

IPR007110

IPR008266

IPR011009

IPR013098

IPR013783

IPR016248

IPR017441

IPR020635

LRG_1021

LRG_1021t1

LRG_1021t2

M58051

M59374

M64347

M64347_at

MIM:100800

MIM:109800

MIM:114500

MIM:134934

MIM:146000

MIM:149730

MIM:162900

MIM:187600

MIM:187601

MIM:273300

MIM:602849

MIM:603956

MIM:610474

MIM:612247

MIM:616482

NM_000142

NM_001163213

NM_001354809

NM_022965

NP_000133

NP_001156685

NP_001341738

NP_075254

PF07679

PF07714

PF13927

PR00109

Q96T34

S76733

SM00219

SM00408

SM00409

TC04000029.hg

TC04001856.hg

U22410

uc003gdr.3

uc003gds.3

uc003gdu.2

uc062umq.1

uc062umr.1

UPI000002A9AC

UPI000002A9AD

UPI000012A72C

X84939

XM_006713868

XM_006713869

XM_006713870

XM_006713871

XM_006713872

XM_006713873

XM_011513420

XM_011513422

XP_006713931

XP_006713932

XP_006713933

XP_006713934

XP_006713936

XP_011511722

XP_011511724

Participant Of

hasMember

hasComponent

FGFR3 R248C mutant dimer [plasma membrane]

Other forms of this molecule

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 795fs*139 [plasma membrane]

FGFR3 [plasma membrane]

FGFR3 S371C [plasma membrane]

FGFR3 Y373C [plasma membrane]

FGFR3 G370C [plasma membrane]

p-6Y-FGFR3 S371C [plasma membrane]

p-6Y-FGFR3 G370C [plasma membrane]

p-6Y-FGFR3 Y373C [plasma membrane]

p-6Y-FGFR3 795fs*139 [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]

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

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

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

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

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

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

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

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

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

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

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

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

Modified Residues

Name

L-arginine 248 replaced with L-cysteine

Coordinate

248

PsiMod HEY

L-cysteine residue [MOD:00014]

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

L-arginine removal [MOD:01632]

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

Disease

Name	Identifier	Synonyms
bladder carcinoma	4007	carcinoma of urinary bladder, carcinoma bladder, carcinoma OF BLADDER, carcinoma of bladder (disorder), carcinoma bladder
multiple myeloma	9538
cancer	162	malignant tumor, malignant neoplasm, primary cancer
head and neck squamous cell carcinoma	5520	carcinoma of the head and neck, squamous cell carcinoma of the head and neck
bone development disease	0080006
thanatophoric dysplasia	13481

Cross References

RefSeq

NP_075254.1, NP_000133.1, NP_001156685.1

ZINC - World Drugs

FGFR3_HUMAN

Brenda

2.7.10.1

ZINC - FDA approved

FGFR3_HUMAN

GeneCards

P22607

ZINC - Substances

FGFR3_HUMAN

ZINC target

P22607

ZINC - Biogenic

FGFR3_HUMAN

PRO

P22607

COSMIC (mutations)

35896, 714

Orphanet

16047

ZINC - Predictions - Purchasable

FGFR3_HUMAN

PDB

4K33, 1RY7, 2LZL

Interactors (1)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:P08238 HSP90AB1	5	HSP90AB1 [extracellular region] (R-HSA-6806463) HSP90AB1 [secretory granule lumen] (R-HSA-6801477) HSP90AB1 [ficolin-1-rich granule lumen] (R-HSA-6801491) HSP90AB1 [cytosol] (R-HSA-419617) HSP90AB1 [nucleoplasm] (R-HSA-5082399)	0.524	2