Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3479
Gene name Gene Name - the full gene name approved by the HGNC.
Insulin like growth factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGF1
Synonyms (NCBI Gene) Gene synonyms aliases
IGF, IGF-I, IGFI, MGF
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 ELISA, GFP reporter assay, Immunoblot, Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot 21643012
Transcription factors
Transcription factor Regulation Reference
BRCA1 Repression 18045956
CEBPA Activation 7708053
EP300 Unknown 18281476
HDAC2 Unknown 18193094
NCOR1 Unknown 18193094
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
147440 5464 ENSG00000017427
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Growth Delay Due To Insulin-Like Growth Factor Deficiency growth delay due to insulin-like growth factor type 1 deficiency rs1592837549, rs3730193 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Endometriosis Endometriosis N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Microcephaly microcephaly N/A N/A ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 25358868
Abnormalities Drug Induced Associate 28768959
Abortion Spontaneous Associate 27174569
Acne Vulgaris Associate 17989724, 20927124, 27803511, 29771405
Acquired ichthyosis Associate 36303457
Acromegaly Stimulate 11404775, 17373589, 21908929, 27070751, 27503591, 29266696, 30742299, 31771524, 34027406
Acromegaly Associate 12604504, 16543670, 19293545, 23291436, 23648743, 26087292, 26448623, 27982199, 28977166, 30843342, 32079542, 34081617, 36973824, 37446150
Acromegaly Inhibit 26949262
Acute Kidney Injury Associate 34078313
Adenocarcinoma Associate 22159423, 24485233, 30335898, 34684639