Gene Gene information from NCBI Gene database.
Entrez ID 3479
Gene name Insulin like growth factor 1
Gene symbol IGF1
Synonyms (NCBI Gene)
IGFIGF-IIGFIMGF
Chromosome 12
Chromosome location 12q23.2
Summary The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and sec
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs147960415 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs1566009282 C>A Likely-pathogenic Splice donor variant
rs1592837549 ->C Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
1136
miRTarBase ID miRNA Experiments Reference
MIRT006431 hsa-miR-27a-3p Luciferase reporter assay 21643012
MIRT006431 hsa-miR-27a-3p Luciferase reporter assay 21643012
MIRT006431 hsa-miR-27a-3p Luciferase reporter assay 21643012
MIRT006431 hsa-miR-27a-3p Luciferase reporter assay 21643012
MIRT006431 hsa-miR-27a-3p ELISAGFP reporter assayImmunoblotImmunoprecipitaionLuciferase reporter assayqRT-PCRWestern blot 21643012
Transcription factors Transcription factors information provided by TRRUST V2 database.
10
Transcription factor Regulation Reference
BRCA1 Repression 18045956
CEBPA Activation 7708053
EP300 Unknown 18281476
HDAC2 Unknown 18193094
NCOR1 Unknown 18193094
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
166
GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development TAS 10448861
GO:0001649 Process Osteoblast differentiation IEA
GO:0001775 Process Cell activation IDA 22797923
GO:0001837 Process Epithelial to mesenchymal transition NAS 26944318
GO:0001974 Process Blood vessel remodeling IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147440 5464 ENSG00000017427
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05019
Protein name Insulin-like growth factor 1 (Insulin-like growth factor I) (IGF-I) (Mechano growth factor) (MGF) (Somatomedin-C)
Protein function The insulin-like growth factors, isolated from plasma, are structurally and functionally related to insulin but have a much higher growth-promoting activity. May be a physiological regulator of [1-14C]-2-deoxy-D-glucose (2DG) transport and glyco
PDB 1B9G , 1BQT , 1GZR , 1GZY , 1GZZ , 1H02 , 1H59 , 1IMX , 1PMX , 1TGR , 1WQJ , 2DSP , 2DSQ , 2DSR , 2GF1 , 3GF1 , 3LRI , 4XSS , 5U8Q , 6FF3 , 6PYH , 6RVA , 7S0Q , 7WRQ , 7YRR , 8EYR , 8X06 , 8X2M , 8XJS , 8XK1 , 8XKM , 8XKR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00049 Insulin 51 109 Insulin/IGF/Relaxin family Domain
Sequence
MGKISSLPTQLFKCCFCDFLKVKMHTMSSSHLFYLALCLLTFTSSATAGPETLCGAELVD
ALQFVCGDRGFYFNKPTGYGSSSRRAPQTGIVDECCFRSCDLRRLEMYC
APLKPAKSARS
VRAQRHTDMPKTQKYQPPSTNKNTKSQRRKGWPKTHPGGEQKEGTEASLQIRGKKKEQRR
EIGSRNAECRGKKGK
Sequence length 195
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  EGFR tyrosine kinase inhibitor resistance
Endocrine resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
HIF-1 signaling pathway
FoxO signaling pathway
Hormone signaling
Oocyte meiosis
p53 signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
AMPK signaling pathway
Longevity regulating pathway
Longevity regulating pathway - multiple species
Focal adhesion
Signaling pathways regulating pluripotency of stem cells
Long-term depression
Inflammatory mediator regulation of TRP channels
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Growth hormone synthesis, secretion and action
Aldosterone-regulated sodium reabsorption
Pathways in cancer
Transcriptional misregulation in cancer
Proteoglycans in cancer
Glioma
Prostate cancer
Melanoma
Breast cancer
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
  Platelet degranulation
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
IRS-related events triggered by IGF1R
SHC-related events triggered by IGF1R
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Synthesis, secretion, and deacylation of Ghrelin
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
71
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Growth delay due to insulin-like growth factor type 1 deficiency Likely pathogenic rs1592837549, rs3730193 RCV001007823
RCV001029775
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
22q13.3 Deletion Syndrome 22q13.3 deletion syndrome BEFREE 24132240
★☆☆☆☆
Found in Text Mining only
Achondroplasia Achondroplasia BEFREE 14671399
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 23457723, 28677193, 28677199, 30192343, 30859308
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 23457723, 30859308
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 11404775, 17373589, 21908929, 27070751, 27503591, 29266696, 30742299, 31771524, 34027406 Stimulate
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 12372843, 12915690, 15914528, 16262568, 17003099, 17573420, 17913341, 19336510, 19439509, 20234189, 20447065, 20920870, 21550080, 22364960, 22370764
View all (109 more)
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 12604504, 16543670, 19293545, 23291436, 23648743, 26087292, 26448623, 27982199, 28977166, 30843342, 32079542, 34081617, 36973824, 37446150 Associate
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly CTD_human_DG 1682667, 18381583, 18388193, 9186818
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly LHGDN 18037753
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly Pubtator 26949262 Inhibit
★☆☆☆☆
Found in Text Mining only