LP420118-4
FGFR2 gene rearrangements
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
Basic Part Properties
- Part Name
- FGFR2 gene rearrangements
- Part Display Name
- FGFR2 gene rearrangements
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2020-08-18
- Construct for LOINC Short Name
- FGFR2 rearrange
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP420118-4
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| it-IT | Italian (Italy) | FGFR2, riorganizzazioni del gene |
| es-ES | Spanish (Spain) | Reordenamientos del gen FGFR2 |
| zh-CN | Chinese (China) | FGFR2 基因重排 Synonyms: FGFR2 基因重排（重组） |
| nl-NL | Dutch (Netherlands) | FGFR2-genherschikking Synonyms: FGFR2-gentranslocaties |
| el-GR | Greek (Greece) | Γονιδιακές αναδιατάξεις FGFR2 Synonyms: Γονιδιακές αναδιατάξεις FGFR2 |
LOINC Copyright
Copyright © 2025 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://