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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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IGF1
insulin like growth factor 1
Chromosome 12 Β· 12q23.2
NCBI Gene: 3479Ensembl: ENSG00000017427.18HGNC: HGNC:5464UniProt: P05019
2,076PubMed Papers
21Diseases
2Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell surface receptor signaling pathway via STATinsulin receptor bindinginsulin-like growth factor receptor bindingintegrin bindinggrowth delay due to insulin-like growth factor type 1 deficiencyAbnormality of the skeletal systemmicrocephalic primordial dwarfismpreeclampsia
✦AI Summary

IGF1 is a growth factor with pleiotropic effects on skeletal muscle development, bone metabolism, and metabolic homeostasis. Primary mechanism: IGF1 binds IGF1R, activating intrinsic tyrosine kinase activity and downstream PI3K-AKT and Ras-MAPK signaling cascades [UniProt]. In skeletal muscle, IGF1 promotes myotube differentiation toward a mature oxidative phenotype with enhanced contractility, myofibril assembly, mitochondrial respiration, and glucose uptake via GLUT4 upregulation 1. Beyond myogenesis, IGF1 suppression has emerged as a disease target: in androgenetic alopecia, AR-promoted miR-221 suppresses IGF1, inactivating MAPK/PI3K-AKT pathways in hair follicle cells 2. In osteoarthritis, Wnt signaling-induced IGF1 transcription drives joint damage; cartilage-specific Igf1 deletion protects against post-traumatic disease 3. IGF1 also exhibits neuroprotective properties: microglia-derived IGF1 promotes GABAergic neurogenesis in prenatal human brain 4, and TREM2-IGF1 signaling reprograms microglia toward a neuroprotective phenotype during ischemic stroke, restoring glucometabolic function 5. Clinically, excessive IGF1 characterizes acromegaly, where prolonged hormone elevation causes systemic manifestations and increased mortality, requiring surgical, radiotherapeutic, or pharmacological intervention 6. IGF1 deficiency is an associated disease state, while excessive signaling requires therapeutic suppression in certain pathologies.

Sources cited
1
IGF1 promotes myotube differentiation with enhanced contractility, myofibril assembly, oxidative metabolism, and glucose uptake
PMID: 38690930
2
AR-induced miR-221 suppresses IGF1 expression, inactivating MAPK and PI3K/AKT pathways in androgenetic alopecia pathogenesis
PMID: 37496996
3
Wnt-induced IGF1 transcription drives joint damage; cartilage-specific Igf1 deletion protects against post-traumatic osteoarthritis
PMID: 39448593
4
Microglia-derived IGF1 promotes progenitor proliferation and GABAergic neurogenesis in prenatal human brain
PMID: 40770097
5
TREM2-IGF1 signaling axis reprograms microglia toward neuroprotective phenotype during ischemic stroke via glucometabolic enhancement
PMID: 38151703
6
Acromegaly is characterized by excessive IGF1 release from pituitary adenoma, causing progressive somatic disfigurement and increased mortality
PMID: 30899019
Disease Associationsβ“˜21
growth delay due to insulin-like growth factor type 1 deficiencyOpen Targets
0.77Strong
Abnormality of the skeletal systemOpen Targets
0.46Moderate
microcephalic primordial dwarfismOpen Targets
0.37Weak
preeclampsiaOpen Targets
0.32Weak
Uterine leiomyomaOpen Targets
0.31Weak
Tietze syndromeOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.29Weak
COVID-19Open Targets
0.29Weak
upper respiratory tract disorderOpen Targets
0.29Weak
breast cancerOpen Targets
0.24Weak
breast neoplasmOpen Targets
0.23Weak
obstructive sleep apneaOpen Targets
0.21Weak
breast diseaseOpen Targets
0.21Weak
Breast hypertrophyOpen Targets
0.20Weak
estrogen-receptor positive breast cancerOpen Targets
0.19Weak
open-angle glaucomaOpen Targets
0.19Weak
uterine fibroidOpen Targets
0.19Weak
acute tonsillitisOpen Targets
0.19Weak
genetic disorderOpen Targets
0.18Weak
acquired thrombocytopeniaOpen Targets
0.18Weak
Insulin-like growth factor I deficiencyUniProt
Pathogenic Variants8
NM_000618.5(IGF1):c.63+2T>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_000618.5(IGF1):c.205del (p.Arg69fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 69
NM_000618.5(IGF1):c.103del (p.Leu35fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 35
NM_000618.5(IGF1):c.220+2T>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_000618.5(IGF1):c.34_37del (p.Phe12fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2021β†’ Residue 12
NM_000618.5(IGF1):c.220+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2018
NM_000618.5(IGF1):c.285C>A (p.Cys95Ter)Likely pathogenic
Growth delay due to insulin-like growth factor type 1 deficiency
β˜†β˜†β˜†β˜†2019β†’ Residue 95
NM_000618.5(IGF1):c.156dup (p.Leu53fs)Likely pathogenic
Growth delay due to insulin-like growth factor type 1 deficiency
β˜†β˜†β˜†β˜†β†’ Residue 53
View on ClinVar β†—
Drug Targets2
DUSIGITUMABPhase II
Insulin-like growth factor I inhibitor
breast cancer
XENTUZUMABPhase II
Insulin-like growth factor I inhibitor
breast cancer
Related Genes
EGFRProtein interaction100%TGFB1Protein interaction100%PDGFDProtein interaction100%PDGFCProtein interaction100%IGFBP2Protein interaction100%IGFBP4Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
29%
Lung
21%
Ovary
15%
Brain
2%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
IGF1EGFRTGFB1PDGFDPDGFCIGFBP2IGFBP4
PROTEIN STRUCTURE
Preparing viewer…
PDB1TGR Β· 1.42 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.68LoF Tolerant
pLIβ“˜
0.76Intermediate
Observed/Expected LoF0.30 [0.14–0.68]
RankingsWhere IGF1 stands among ~20K protein-coding genes
  • #55of 20,598
    Most Researched2,076 Β· top 1%
  • #3,008of 5,498
    Most Pathogenic Variants8
  • #4,990of 17,882
    Most Constrained (LOEUF)0.68
Genes detectedIGF1
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
The role of hormones in muscle hypertrophy.
PMID: 29172848
Phys Sportsmed Β· 2018
1.00
2
Acromegaly.
PMID: 30899019
Nat Rev Dis Primers Β· 2019
0.90
3
Disrupting AGR2/IGF1 paracrine and reciprocal signaling for pancreatic cancer therapy.
PMID: 39914384
Cell Rep Med Β· 2025
0.82
4
TREM2-IGF1 Mediated Glucometabolic Enhancement Underlies Microglial Neuroprotective Properties During Ischemic Stroke.
PMID: 38151703
Adv Sci (Weinh) Β· 2024
0.80
5
Acromegaly.
PMID: 30899021
Nat Rev Dis Primers Β· 2019
0.78