FGF5

Chr 4AR

fibroblast growth factor 5

Also known as: HBGF-5, Smag-82, TCMGLY

NCBI Gene: 2250ENSG00000138675UniProt: P12034

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This gene was identified as an oncogene, which confers transforming potential when transfected into mammalian cells. Targeted disruption of the homolog of this gene in mouse resulted in the phenotype of abnormally long hair, which suggested a function as an inhibitor of hair elongation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

TrichomegalyMIM #190330
AR
0
Active trials
27
Pathogenic / LP
93
ClinVar variants
40
Pubs (1 yr)
-0.6
Missense Z
1.88
LOEUF
Clinical Summary— FGF5
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
27 Pathogenic / Likely Pathogenic· 60 VUS of 93 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.88LOEUF
pLI 0.000
Z-score -0.95
OE 1.33 (0.85–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.60Z-score
OE missense 1.14 (1.00–1.29)
171 obs / 150.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.33 (0.85–1.88)
0≤0.351.4
Missense OE1.14 (1.00–1.29)
0≤0.61.4
Synonymous OE1.30
0≤1.21.6
LoF obs/exp: 13 / 9.8Missense obs/exp: 171 / 150.3Syn Z: -1.77
DN
DN
0.6260th %ile
GOF
0.6052th %ile
LOF
0.50top 25%

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

93 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic27
VUS60
Likely Benign6
27
Pathogenic
60
VUS
6
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
1
24
0
27
Likely Pathogenic
0
0
0
0
0
VUS
1
52
7
0
60
Likely Benign
0
2
2
2
6
Benign
0
0
0
0
0
Total35533293

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

FGF5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients