IGF1R insulin like growth factor 1 receptor
Gene ID: 3480, updated on 11-Apr-2024Gene type: protein coding
Also known as: IGFR; CD221; IGFIR; JTK13
- See all available tests in GTR for this gene
- Go to complete Gene record for IGF1R
- Go to Variation Viewer for IGF1R variants
Summary
This receptor binds insulin-like growth factor with a high affinity. It has tyrosine kinase activity. The insulin-like growth factor I receptor plays a critical role in transformation events. Cleavage of the precursor generates alpha and beta subunits. It is highly overexpressed in most malignant tissues where it functions as an anti-apoptotic agent by enhancing cell survival. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. GeneReviews: Not available | |
| Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13. GeneReviews: Not available | |
| Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians. GeneReviews: Not available | |
| Growth delay due to insulin-like growth factor I resistance | See labs |
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2022-11-08) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2022-11-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 15q26.3
- Sequence:
- Chromosome: 15; NC_000015.10 (98648539..98964530)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IGF1R 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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