FGF1

Chr 5

fibroblast growth factor 1

Also known as: AFGF, ECGF, ECGF-beta, ECGFA, ECGFB, FGF-1, FGF-alpha, FGFA

NCBI Gene: 2246ENSG00000113578UniProt: P05230

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 protein functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]

33
ClinVar variants
12
Pathogenic / LP
0.44
pLI score
0
Active trials
Clinical Summary— FGF1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.18) despite low pLI — interpret in context.
📋
ClinVar Variants
12 Pathogenic / Likely Pathogenic· 19 VUS of 33 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.86LOEUF
pLI 0.444
Z-score 1.78
OE 0.18 (0.06–0.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.46Z-score
OE missense 0.86 (0.72–1.04)
77 obs / 89.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.18 (0.06–0.86)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.86 (0.72–1.04)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.14
0≤1.21.6
LoF obs/exp: 1 / 5.5Missense obs/exp: 77 / 89.4Syn Z: -0.68

ClinVar Variant Classifications

33 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic12
VUS19
Likely Benign1
Benign1
12
Pathogenic
19
VUS
1
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
12
0
12
Likely Pathogenic
0
0
0
0
0
VUS
1
14
4
0
19
Likely Benign
0
0
1
0
1
Benign
0
1
0
0
1
Total11517033

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

View in ClinVar →

Protein Context — Lollipop Plot

FGF1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
📖
GeneReview available — FGF1
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
FGF1.
Jamal SB et al.·Differentiation
2024Review
Senescence Reprogramming by TIMP1 Deficiency Promotes Prostate Cancer Metastasis.
Guccini I et al.·Cancer Cell
2021
FGF1(ΔHBS) prevents diabetic cardiomyopathy by maintaining mitochondrial homeostasis and reducing oxidative stress via AMPK/Nur77 suppression.
Wang D et al.·Signal Transduct Target Ther
2021
Role of signaling pathways in age-related orthopedic diseases: focus on the fibroblast growth factor family.
Li HZ et al.·Mil Med Res
2024Review
Gremlin1 is a therapeutically targetable FGFR1 ligand that regulates lineage plasticity and castration resistance in prostate cancer.
Cheng C et al.·Nat Cancer
2022
Fibroblast Growth Factors in Cardiovascular Disease.
Morita H et al.·J Atheroscler Thromb
2024Review
Stromal reprogramming overcomes resistance to RAS-MAPK inhibition to improve pancreas cancer responses to cytotoxic and immune therapy.
Liu X et al.·Sci Transl Med
2024
Fibroblast Growth Factors for Nonalcoholic Fatty Liver Disease: Opportunities and Challenges.
Tian H et al.·Int J Mol Sci
2023Review
FGF1 - a new weapon to control type 2 diabetes mellitus.
Gasser E et al.·Nat Rev Endocrinol
2017Review
FGF1 attenuates sepsis-induced coagulation dysfunction and hepatic injury via IL6/STAT3 pathway inhibition.
Bi J et al.·Biochim Biophys Acta Mol Basis Dis
2024
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Synergistic Antitumor Activity and Neuroprotective Effects of FGF1/FGFR Inhibition with Oxaliplatin Chemotherapy.
Xie C et al.·J Adv Res
2026
CircZBTB46 alleviates metabolic dysfunction-associated steatotic liver disease by targeting miRNA-326/FGF1 axis.
Zeng QM et al.·Cell Death Discov
2026🔓 Open Access
FGF1-FGFR2 axis regulated by nuclear receptor RORγ represents an effective strategy in intrahepatic cholangiocarcinoma.
Gu Z et al.·Cell Death Discov
2025🔓 Open Access
Multi-Omics Integration Identifies FGF1 as a Diagnostic Biomarker and RAS-MAPK-Driven Pathogenic Factor in Osteoarthritis.
Yan Y et al.·J Inflamm Res
2025🔓 Open Access
Incorporation of unnatural amino acid into human acidic fibroblast growth factor 1 (FGF1) protein with increased thermal, chemical stability and enhanced bioactivity.
Tavousi Tabatabaei R et al.·Arch Biochem Biophys
2026
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools