FGFR3 fibroblast growth factor receptor 3

Gene ID: 2261, updated on 23-Nov-2023
Gene type: protein coding
Also known as: ACH; CEK2; JTK4; CD333; HSFGFR3EX

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 MedGen: C0001080OMIM: 100800GeneReviews: Achondroplasia	See labs
Camptodactyly-tall stature-scoliosis-hearing loss syndrome MedGen: C1864852OMIM: 610474GeneReviews: Not available	See labs
Cervix cancer MedGen: C4048328OMIM: 603956GeneReviews: Not available	See labs
Colorectal cancer MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome	See labs
Crouzon syndrome-acanthosis nigricans syndrome MedGen: C2677099OMIM: 612247GeneReviews: FGFR Craniosynostosis Syndromes Overview	See labs
Epidermal nevus MedGen: C0334082OMIM: 162900GeneReviews: PIK3CA-Related Overgrowth Spectrum	See labs
Genome-wide association study identifies multiple loci associated with bladder cancer risk. GeneReviews: Not available
Germ cell tumor of testis MedGen: C1336708OMIM: 273300GeneReviews: Not available	See labs
Hypochondroplasia MedGen: C0410529OMIM: 146000GeneReviews: Hypochondroplasia	See labs
Isolated coronal synostosis MedGen: CN043619GeneReviews: FGFR Craniosynostosis Syndromes Overview	See labs
Lacrimoauriculodentodigital syndrome 2 MedGen: C5774286OMIM: 620192GeneReviews: Not available	not available
Malignant tumor of urinary bladder MedGen: C0005684OMIM: 109800GeneReviews: Not available	See labs
Muenke syndrome MedGen: C1864436OMIM: 602849GeneReviews: Muenke Syndrome, FGFR Craniosynostosis Syndromes Overview	See labs
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome MedGen: C2674173OMIM: 616482GeneReviews: Not available	See labs
Thanatophoric dysplasia type 1 MedGen: C1868678OMIM: 187600GeneReviews: Thanatophoric Dysplasia	See labs
Thanatophoric dysplasia, type 2 MedGen: C1300257OMIM: 187601GeneReviews: Thanatophoric Dysplasia	See labs

Copy number response

Description
Copy number response Haploinsufficency No evidence available (Last evaluated 2011-11-09) ClinGen Genome Curation Page Triplosensitivity No evidence available (Last evaluated 2011-11-09) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 4p16.3

Sequence:: Chromosome: 4; NC_000004.12 (1793293..1808867)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for FGFR3 variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FGFR3 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNP: GeneView
SNPs linked from GeneView

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