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FLASH GENE

Symbol

FGFR2

contributors: mct - updated : 26-03-2019

HGNC name	fibroblast growth factor receptor 2 (bacteria-expressed kinase, keratinocyte growth factor receptor, craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)
HGNC id	3689

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

ACS1 , CRS5A , CRS6 , CRS7B , CRS11 , ANBXL1 , CRS7C , BSCGS , LADD1 , BBDS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral somatic mutation       in gastric carcinoma tumoral germinal mutation       mutation P253R in early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome tumoral     --low   by hypermethylation in gastric cancer cells, contributing to tumor progression tumoral   amplification --over   in breast cancer tumoral somatic mutation       in endometrial cancer tumoral   amplification     in diffuse-type gastric cancer constitutional   deletion     of either FGF9 or FGFR2 in an XY gonad resulted in up-regulation of WNT4 and male-to-female sex reversal constitutional     --over   increased FGFR2 activation during embryonic period leads to abnormal differentiation or regression of the tail bud and, in turn, sacrococcygeal eversion, in certain patients with severe syndromic craniosynostosis tumoral     --over   in pancreatic ductal adenocarcinoma (PDAC) and correlated with advanced stage cancer tumoral fusion       KLK2-FGFR2 fusion gene in metastatic prostate cancer

Susceptibility

to hypospadias to estrogen receptor-positive breast cancer, low-risk allele

Variant & Polymorphism SNP , other	polymorphisms increasing the risk of hypospadias
	SNP increasing the risk of breast cancer

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive uterus anti-FGFR molecularly targeted therapies in patients with advanced or recurrent endometrial carcinoma cancer reproductive breast FGFR2 inhibition is a potential strategy for anti-cancer therapy by eradicating breast tumor-initiating cells cancer digestive stomach development of FGFR-targeted therapy for gastric cancers with FGFR2 amplification cancer endocrine pancreas therapeutic target for inhibition in PDAC

ANIMAL & CELL MODELS

	cleft palate occurred in nearly all mice homozygous for the Crouzon syndrome mutation C342Y in the mesenchymal splice form of Fgfr2
	a soluble truncated Fgfr2 molecule encoded by a premature termination codon-containing transcript is up-regulated and persists in tissues of an Apert mouse model
	deletion of Fgfr2 or its ligand Fgf10 results in severe hypospadias in mice, in which the entire urethral plate is open along the ventral side of the penis