IGF2 insulin like growth factor 2
Gene ID: 3481, updated on 19-Sep-2024Gene type: protein coding
Also known as: GRDF; SRS3; IGF-II; PP9974; C11orf43
- See all available tests in GTR for this gene
- Go to complete Gene record for IGF2
- Go to Variation Viewer for IGF2 variants
Summary
This gene encodes a member of the insulin family of polypeptide growth factors, which are involved in development and growth. It is an imprinted gene, expressed only from the paternal allele, and epigenetic changes at this locus are associated with Wilms tumour, Beckwith-Wiedemann syndrome, rhabdomyosarcoma, and Silver-Russell syndrome. A read-through INS-IGF2 gene exists, whose 5' region overlaps the INS gene and the 3' region overlaps this gene. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. GeneReviews: Not available | |
| A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. GeneReviews: Not available | |
| Beckwith-Wiedemann syndrome | not available |
| Bivariate genome-wide association analyses identified genes with pleiotropic effects for femoral neck bone geometry and age at menarche. GeneReviews: Not available | |
| Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. GeneReviews: Not available | |
| GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. GeneReviews: Not available | |
| Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. GeneReviews: Not available | |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. GeneReviews: Not available | |
| Silver-Russell syndrome 1 | not available |
| Silver-Russell syndrome 3 | not available |
| Wilms tumor 1 MedGen: CN033288OMIM: 194070GeneReviews: Wilms Tumor Predisposition, PAX6-Related Aniridia, WT1 Disorder | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2012-03-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 11p15.5
- Sequence:
- Chromosome: 11; NC_000011.10 (2129117..2149566, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IGF2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- LOVD - Growth Consortium
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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