FGFR3 fibroblast growth factor receptor 3
Gene ID: 2261, updated on 13-Jul-2024Gene type: protein coding
Also known as: ACH; CEK2; JTK4; CD333; HSFGFR3EX
- See all available tests in GTR for this gene
- Go to complete Gene record for FGFR3
- Go to Variation Viewer for FGFR3 variants
Summary
This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist 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 binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci. GeneReviews: Not available | |
| A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer. GeneReviews: Not available | |
| Achondroplasia | not available |
| Camptodactyly-tall stature-scoliosis-hearing loss syndrome | not available |
| Cervix cancer | not available |
| Colorectal cancer | not available |
| Crouzon syndrome-acanthosis nigricans syndrome | not available |
| Epidermal nevus | not available |
| Genome-wide association study identifies multiple loci associated with bladder cancer risk. GeneReviews: Not available | |
| Germ cell tumor of testis | not available |
| Hypochondroplasia | not available |
| Isolated coronal synostosis MedGen: CN043619GeneReviews: FGFR Craniosynostosis Syndromes Overview | not available |
| Lacrimoauriculodentodigital syndrome 2 | not available |
| Malignant tumor of urinary bladder | not available |
| Muenke syndrome | not available |
| Severe achondroplasia-developmental delay-acanthosis nigricans syndrome | not available |
| Thanatophoric dysplasia type 1 | not available |
| Thanatophoric dysplasia, type 2 | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2011-11-09) ClinGen Genome Curation PageTriplosensitivity |
Genomic context
- Location:
- 4p16.3
- Sequence:
- Chromosome: 4; NC_000004.12 (1793293..1808867)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FGFR3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FGFR3 @ 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
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