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Gene

FGFR3

fibroblast growth factor receptor 3

Summary

Cytogenetic location
4p16.3
Coordinates
Chromosome 4: 1,793,293–1,808,867 (GRCh38)
Exons
18 exons across 15.6 kb
Protein
806 amino acids
Inheritance
Autosomal dominant
Also known as
CEK2, JTK4, CD333
Previous symbols
ACH
MANE Select transcript
ENST00000440486.8NM_000142.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)

    • FGFR3-related chondrodysplasiaAutosomal dominant

      Skeletal dysplasias caused by gain-of-function FGFR3 variants, most of which arise new (de novo) rather than being inherited from a parent; nearly all achondroplasia is caused by a single variant, p.Gly380Arg.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Specialist follow-up monitors for complications such as narrowing at the base of the skull and spine, and vosoritide is approved to improve growth in children with achondroplasia.

  • Syndromic Craniosynostosis

    • Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How FGFR3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 4, with a bracket where FGFR3 sits. FGFR3 and 17 genes near it on chromosome 4, from 1,301,080 to 2,301,079.Chromosome 44p16.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.21.4 Mb1.6 Mb1.8 Mb2 Mb2.2 MbMAEA: 1,289,839–1,340,148, forward strandMAEAUVSSA: 1,345,691–1,395,989, forward strandUVSSANKX1-1: 1,402,932–1,406,442, reverse strandNKX1-1FAM53A: 1,617,915–1,684,356, reverse strandFAM53ASLBP: 1,692,731–1,712,344, reverse strandSLBPTACC3: 1,712,858–1,745,178, forward strandTACC3TMEM129: 1,715,951–1,721,367, reverse strandTMEM129FGFR3: 1,793,293–1,808,867, forward strandFGFR3LETM1: 1,811,479–1,856,244, reverse strandLETM1NSD2: 1,870,559–1,982,207, forward strandNSD2NELFA: 1,982,715–2,041,903, reverse strandNELFANICOL1: 2,040,628–2,043,964, forward strandNICOL1ASPNAT: 2,058,662–2,069,089, forward strandASPNATPOLN: 2,071,918–2,242,138, reverse strandPOLN: 2,078,998–2,242,276, reverse strandHAUS3: 2,227,462–2,242,190, reverse strandHAUS3MXD4: 2,247,431–2,262,144, reverse strandMXD4ZFYVE28: 2,269,578–2,418,794, reverse strandZFYVE28Diagram of FGFR3: 18 exons on the forward strand of chromosome 4Exon 3: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 11 known disease-causing sitesExon 8: 7 known disease-causing sitesExon 9: 10 known disease-causing sitesExon 12: 5 known disease-causing sitesExon 13: 2 known disease-causing sitesExon 14: 7 known disease-causing sitesExon 15: 1 known disease-causing siteExon 18: 4 known disease-causing sitesExon 1: 1,793,293–1,793,465, 173 basesExon 2: 1,793,833–1,794,043, 211 basesExon 3: 1,799,254–1,799,523, 270 basesExon 4: 1,799,747–1,799,812, 66 basesExon 5: 1,801,367–1,801,536, 170 basesExon 6: 1,801,620–1,801,743, 124 basesExon 7: 1,801,835–1,802,025, 191 basesExon 8: 1,803,692–1,803,836, 145 basesExon 9: 1,804,330–1,804,520, 191 basesExon 10: 1,804,824–1,804,969, 146 basesExon 11: 1,805,355–1,805,476, 122 basesExon 12: 1,805,559–1,805,669, 111 basesExon 13: 1,805,750–1,805,940, 191 basesExon 14: 1,806,051–1,806,173, 123 basesExon 15: 1,806,257–1,806,327, 71 basesExon 16: 1,806,546–1,806,683, 138 basesExon 17: 1,806,829–1,806,934, 106 basesExon 18: 1,807,116–1,808,867, 1,752 bases1246810121416185′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.3 kb of the gene's 15.6 kb; 2,421 of those bases code for the protein.

How a genome test reads FGFR3

52

positions in FGFR3 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 15.6 kb of FGFR3, introns included, not only the 4.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FGFR3 gene: fibroblast growth factor receptor 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/fgfr3

Vancouver

Dante Labs. FGFR3 gene: fibroblast growth factor receptor 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fgfr3

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