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FGFR2 fibroblast growth factor receptor 2

Gene ID: 2263, updated on 20-May-2024
Gene type: protein coding
Also known as: BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM

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

DescriptionTests
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 ISee labs
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisSee labs
Beare-Stevenson cutis gyrata syndromeSee labs
Bent bone dysplasia syndrome 1See labs
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
GeneReviews: Not available
Crouzon syndromeSee labs
Familial scaphocephaly syndrome, McGillivray type
MedGen: C1865070OMIM: 609579GeneReviews: Not available
See labs
Gastric cancer
MedGen: C0024623OMIM: 613659GeneReviews: Not available
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 synostosisSee labs
Jackson-Weiss syndromeSee labs
LADD syndrome 1
MedGen: C5774323OMIM: 149730GeneReviews: Not available
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
not available
Pfeiffer syndromenot available
Saethre-Chotzen syndrome
MedGen: C0175699OMIM: 101400GeneReviews: Saethre-Chotzen Syndrome
See labs

Genomic context

Location:
10q26.13
Sequence:
Chromosome: 10; NC_000010.11 (121478330..121598458, complement)
Total number of exons:
26

Links

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