Skip to content
GenoLensGenoLens

IGF2

Chr 11p15.5

insulin like growth factor 2

Aliases:
FLJ44734, IGF-II
MANE:
ENST00000416167.7

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
  • Monogenic short stature

    MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
  • Silver Russell syndrome

    MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
  • Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

    MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
  • Childhood solid tumours

  • Intellectual disability

    Other - please specify in evaluation comments
  • IUGR and IGF abnormalities

    MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Disease associations (Open Targets)

  • Silver-Russell syndrome due to a point mutation

    0.72
  • Silver-Russell syndrome

    0.68
  • Beckwith-Wiedemann syndrome

    0.59
  • maturity-onset diabetes of the young type 10

    0.47
  • diabetes mellitus, permanent neonatal 4

    0.45
  • hyperproinsulinemia

    0.45
  • hereditary disease

    0.41
  • isolated hemihyperplasia

    0.38
  • Hemihypertrophy

    0.38
  • diabetes mellitus

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Insulin-like growth factor 2

The insulin-like growth factors possess growth-promoting activity (By similarity). Major fetal growth hormone in mammals. Plays a key role in regulating fetoplacental development. IGF2 is influenced by placental lactogen. Also involved in tissue differentiation. In adults, involved in glucose metabolism in adipose tissue, skeletal muscle and liver (Probable). Acts as a ligand for integrin which is required for IGF2 signaling (PubMed:28873464). Positively regulates myogenic transcription factor MYOD1 function by facilitating the recruitment of transcriptional coactivators, thereby controlling muscle terminal differentiation (By similarity). Inhibits myoblast differentiation and modulates metabolism via increasing the mitochondrial respiration rate (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.