LP19704-3
FGFR2 gene
Active
Description
The FGFR2 gene (fibroblast growth factor receptor 2) [HGNC Gene ID:3689] is located on chromosome 10q26. 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] [NCBI Gene ID:2263] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- FGFR2 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- FGFR2 gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FGFR2 基因 Synonyms: BEK; |
| et-EE | Estonian (Estonia) | FGFR2 geen |
| es-ES | Spanish (Spain) | Gen FGFR2 |
| it-IT | Italian (Italy) | FGFR2, gene Synonyms: Gene FGFR2 |
| tr-TR | Turkish (Turkey) | FGFR2 geni |
| ru-RU | Russian (Russian Federation) | FGFR2 ген |
| nl-NL | Dutch (Netherlands) | FGFR2-gen Synonyms: FGFR2 gen |
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