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FLASH GENE

Symbol

FGFR3

contributors: mct/pgu - updated : 29-03-2017

HGNC name	fibroblast growth factor receptor 3
HGNC id	3690

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ACH , CRS10 , CRS5B , CRSCNS , CRS8 , FENS , SADDAN , TNTP1 , TNTP2 , HCH , BSCGS2 , LADD2 , CATSHL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   LOH     in transitional cell carcinomas tumoral somatic mutation       in superficial urothelial cell carcinoma (UCC), in bladder carcinomas (superficial or low-grade) constitutional somatic mutation     gain of function somatic activating mutations in acanthosis nigricans and seborrheic keratosis tumoral     --other   dysregulated in multiple myeloma with t(4;14)(p16.3;q32) constitutional somatic mutation       mosaicism of activating mutation in skin causing epidermal nevi constitutional germinal mutation       intracellular mutations induce tyrosine phosphorylation in the Golgi, defective glycosylation and could disrupt bone development tumoral germinal mutation       in seborrheic keratosis and urothelial carcinomas tumoral fusion       TEL-FGFR3, in t(4;12)(p16;p13) with acute myeloid leukemia constitutional somatic mutation       somatic activating fibroblast growth factor 3 (FGFR3) mutations in skin can cause seborrheic keratoses tumoral       gain of function mutation activating in spermatocytic seminomas, paternal age-effect mutations activating a common 'selfish' pathway supporting proliferation in the testis constitutional germinal mutation     gain of function gain-of-function mutations, would have a stronger effect on the upper arm and leg, since FGFR3 is not targeted by SHOX in that part of the limbs and therefore expressed at higher levels than in the mesomelic segments tumoral fusion       with BAIAP2L1, in bladder carcinoma 3) tumoral fusion       to the transforming acidic coiled-coil (TACC) coding domains of TACC1 or TACC3, respectively in glioblastoma constitutional         -

Susceptibility

to urinary bladder cancer (UBC) to short stature

Variant & Polymorphism SNP	rs798766[T] shows stronger association with low-grade and low-stage UBC than with more aggressive forms of the disease and is associated with higher risk of recurrence in low-grade stage Ta tumors
	p.M528I mutation in FGFR3 segregates with short stature

Candidate gene
Marker	nuclear translocation of FGFR3 is frequent and carries clinicopathologic as well as prognostic significances in pancreatic cancer
Therapy target
	System Type Disorder Pubmed cancer hemopathy   therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies (for multiple myeloma associated with overexpression of FGFR3, and perhaps other diseases associated with dysregulation of FGFR3 or related mutants) osteoarticular bone   HSP90 inhibitors may be useful for treating FGFR3-mediated diseases osteoarticular bone osteochondroplasia development of tyrosine kinase inhibitors for the treatment of FGFR3-related chondrodysplasias osteoarticular bone   inhibitory peptide for FGFR3 signaling, which may serve as a potential therapeutic agent for the treatment of FGFR3-related skeletal dysplasia

ANIMAL & CELL MODELS

	chondrocyte-specific activation of Fgfr3 in mice induced premature synchondrosis closure and enhanced osteoblast differentiation around synchondroses
	FGFR-3-/- mice show a marked deficit in a number of Paneth cell markers and a significant reduction in the number of lysozyme-positive Paneth cell