Entity Details

Primary name IGF2
Entity type gene
Source Source Link

Details

PrimaryID3481
RefseqGeneNG_008849
SymbolIGF2
Nameinsulin like growth factor 2
Chromosome11
Location11p15.5
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1992-07-27
ModificationDate2021-06-17

Ontological Relatives

UniProt IDsIGF2_HUMAN

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0001501 skeletal system development
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001892 embryonic placenta development
GO:0001934 positive regulation of protein phosphorylation
GO:0002576 platelet degranulation
GO:0005158 insulin receptor binding
GO:0005159 insulin-like growth factor receptor binding
GO:0005178 integrin binding
GO:0005179 hormone activity
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0006006 glucose metabolic process
GO:0006349 regulation of gene expression by genetic imprinting
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0008083 growth factor activity
GO:0008284 positive regulation of cell population proliferation
GO:0008286 insulin receptor signaling pathway
GO:0009887 animal organ morphogenesis
GO:0031017 exocrine pancreas development
GO:0031056 regulation of histone modification
GO:0031093 platelet alpha granule lumen
GO:0038028 insulin receptor signaling pathway via phosphatidylinositol 3-kinase
GO:0040018 positive regulation of multicellular organism growth
GO:0042104 positive regulation of activated T cell proliferation
GO:0043085 positive regulation of catalytic activity
GO:0043410 positive regulation of MAPK cascade
GO:0043539 protein serine/threonine kinase activator activity
GO:0044267 cellular protein metabolic process
GO:0045725 positive regulation of glycogen biosynthetic process
GO:0045840 positive regulation of mitotic nuclear division
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046622 positive regulation of organ growth
GO:0046628 positive regulation of insulin receptor signaling pathway
GO:0048018 receptor ligand activity
GO:0048633 positive regulation of skeletal muscle tissue growth
GO:0050731 positive regulation of peptidyl-tyrosine phosphorylation
GO:0051146 striated muscle cell differentiation
GO:0051147 regulation of muscle cell differentiation
GO:0051148 negative regulation of muscle cell differentiation
GO:0051781 positive regulation of cell division
GO:0051897 positive regulation of protein kinase B signaling
GO:0060669 embryonic placenta morphogenesis
GO:0060720 spongiotrophoblast cell proliferation
GO:1905564 positive regulation of vascular endothelial cell proliferation
GO:2000467 positive regulation of glycogen (starch) synthase activity

Diseases

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Disease IDSourceNameDescription
616489 OMIMSilver-Russell syndrome 3 (SRS3)A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.
180860 OMIMSilver-Russell syndrome 1 (SRS1)A form of Silver-Russell syndrome, a clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. SRS1 is caused by epigenetic changes of DNA hypomethylation at the telomeric imprinting control region (ICR1) on chromosome 11p15, involving the H19 and IGF2 genes. The gene represented in this entry is involved in disease pathogenesis.