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FGFR3 fibroblast growth factor receptor 3

Gene ID: 2261, updated on 19-May-2024
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

DescriptionTests
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
Cervical cancer
MedGen: C4048328OMIM: 603956GeneReviews: Not available
See labs
Colorectal cancer
MedGen: C0346629OMIM: 114500GeneReviews: Lynch Syndrome
See labs
Crouzon syndrome-acanthosis nigricans syndromeSee labs
Epidermal nevusSee 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 synostosisSee labs
Lacrimoauriculodentodigital syndrome 2
MedGen: C5774286OMIM: 620192GeneReviews: Not available
not available
Malignant tumor of urinary bladder
MedGen: C0005684OMIM: 109800GeneReviews: Not available
See labs
Muenke syndromeSee 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

Links

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