FGFR2 fibroblast growth factor receptor 2
Gene ID: 2263, updated on 18-Jan-2025Gene type: protein coding
Also known as: BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM
- See all available tests in GTR for this gene
- Go to complete Gene record for FGFR2
- Go to Variation Viewer for FGFR2 variants
Summary
The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this 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. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A combined analysis of genome-wide association studies in breast cancer. GeneReviews: Not available | |
| A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese. GeneReviews: Not available | |
| A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. GeneReviews: Not available | |
| A genome-wide association study of early-onset breast cancer identifies PFKM as a novel breast cancer gene and supports a common genetic spectrum for breast cancer at any age. GeneReviews: Not available | |
| A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. GeneReviews: Not available | |
| A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). GeneReviews: Not available | |
| Acrocephalosyndactyly type I | See labs |
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | See labs |
| Beare-Stevenson cutis gyrata syndrome | See labs |
| Bent bone dysplasia syndrome 1 | See labs |
| Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. GeneReviews: Not available | |
| Crouzon syndrome | See labs |
| Familial scaphocephaly syndrome, McGillivray type | See labs |
| Gastric cancer | See labs |
| Genetic correction of PSA values using sequence variants associated with PSA levels. GeneReviews: Not available | |
| Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. GeneReviews: Not available | |
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association study identifies five new breast cancer susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study identifies novel breast cancer susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of breast cancer in the Japanese population. GeneReviews: Not available | |
| Isolated Coronal Synostosis MedGen: CN043619GeneReviews: FGFR Craniosynostosis Syndromes Overview | See labs |
| Jackson-Weiss syndrome | See labs |
| LADD syndrome 1 | See labs |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available | |
| Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. GeneReviews: Not available | |
| Pemigatinib response MedGen: CN297576GeneReviews: Not available | See labs |
| Pfeiffer syndrome | See labs |
| Saethre-Chotzen syndrome | See labs |
Genomic context
- Location:
- 10q26.13
- Sequence:
- Chromosome: 10; NC_000010.11 (121478330..121598458, complement)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FGFR2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FGFR2 @ LOVD
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.