Preferred Label : FGFR2 wt Allele;
NCIt synonyms : BFR-1; TK14; Keratinocyte Growth Factor Receptor Gene; Fibroblast Growth Factor Receptor 2 wt Allele; KSAM-1; FGFR2; KGFR Gene; BEK; BEK Fibroblast Growth Factor Receptor Gene; CEK3; Craniofacial Dysostosis Gene; Protein Tyrosine Kinase, Receptor-Like, 14 Gene; K-SAM; Fibroblast Growth Factor Receptor BEK Gene; TK25; BEK, Mouse, Homology of Gene; ECT1; Bacteria-Expressed Kinase Gene; CD332; Pfeiffer Syndrome Gene; Crouzon Syndrome Gene; JWS; CFD1; BBDS; Jackson-Weiss Syndrome Gene;
NCIt definition : Human FGFR2 wild-type allele is located within 10q26 and is approximately 875 kb in
length. This allele, which encodes fibroblast growth factor receptor 2 protein, plays
a role in mitogenesis and differentiation by mediating the binding interactions of
keratinocyte growth factor. Mutations in the gene are associated with Crouzon syndrome,
Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson
cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis.;
NCIt note : Five SNPs for the FGFR2 gene (rs2981582, rs11200014, rs2981579, rs1219648 and rs2420946)
have been linked to increased breast cancer incidence. (Nature Genetics 2007; 39:870-874
and Nature 2007; 447:1087-1093);
GenBank Accession Number : NM_000141;
PubMed : 17529967 and 17529973;
Origin ID : C51543;
UMLS CUI : C1704724;
OMIM relation
- Semantic type(s)
- concept_is_in_subset
- gene_associated_with_disease
- gene_found_in_organism
- gene_has_abnormality
- gene_has_physical_location
- gene_in_chromosomal_location
- gene_is_element_in_pathway
- gene_plays_role_in_process
