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Gene

FGF14

fibroblast growth factor 14

Summary

Cytogenetic location
13q33.1
Coordinates
Chromosome 13: 101,710,804–101,916,945 (GRCh38)
Exons
5 exons across 206.1 kb
Protein
247 amino acids
Inheritance
Autosomal dominant
Also known as
FHF4, SCA27
MANE Select transcript
ENST00000376143.5NM_004115.4
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 report relevant to this gene

  • Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)

    • Autosomal Dominant Cerebellar AtaxiaAutosomal dominant

      A group of dominantly inherited ataxias, including SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, SCA27B and DRPLA, caused by repeat expansions or point variants in genes such as ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 and FGF14.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Genetic counselling and presymptomatic testing for relatives, physiotherapy and symptom management; some forms, such as SCA27B, may respond to specific medication.

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 FGF14 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 13, with a bracket where FGF14 sits. FGF14 and 2 genes near it on chromosome 13, from 101,313,875 to 102,313,874.Chromosome 1313q33.1p13p12p11.2p11.1q11q12.11q12.12q12.13q12.2q12.3q13.1q13.2q13.3q14.11q14.12q14.13q14.2q14.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34101.4 Mb101.6 Mb101.8 Mb102 Mb102.2 MbNALCN: 101,053,773–101,416,515, reverse strandNALCNITGBL1: 101,452,434–101,721,408, forward strandITGBL1FGF14: 101,710,804–101,916,945, reverse strandFGF14Diagram of FGF14: 5 exons on the reverse strand of chromosome 13Exon 4: 2 known disease-causing sitesExon 3: 1 known disease-causing siteExon 1: 1 known disease-causing siteExon 5: 101,710,804–101,722,967, 12,164 basesExon 4: 101,726,612–101,726,810, 199 basesExon 3: 101,868,725–101,868,828, 104 basesExon 2: 101,875,186–101,875,296, 111 basesExon 1: 101,916,453–101,916,945, 493 bases543215′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 13.1 kb of the gene's 206.1 kb; 744 of those bases code for the protein.

How a genome test reads FGF14

7

positions in FGF14 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (14%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 206.1 kb of FGF14, introns included, not only the 13.1 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.). FGF14 gene: fibroblast growth factor 14. Retrieved 17 October 2026, from https://dantelabs.com/genes/fgf14

Vancouver

Dante Labs. FGF14 gene: fibroblast growth factor 14 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fgf14

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