Gene
IGF1R
insulin like growth factor 1 receptor
- HGNC 5465↗(opens in a new tab)
- Ensembl gene ENSG00000140443↗(opens in a new tab)
- NCBI Gene 3480↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q26.3
- Coordinates
- Chromosome 15: 98,648,539–98,964,530 (GRCh38)
- Exons
- 21 exons across 316 kb
- Protein
- 1,367 amino acids
- Also known as
- JTK13, CD221, IGFIR, MGC18216, IGFR
- MANE Select transcript
- ENST00000650285.1NM_000875.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Growth Hormone Insensitivity & IGF-1 Axis Disorders
- Growth hormone insensitivity syndrome
Short stature with normal or high growth hormone but low IGF-1, including Laron syndrome (GHR), IGF1, IGFALS and IGF1R defects, and STAT5B deficiency with immune dysregulation.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Recombinant IGF-1 (mecasermin) can improve growth in some forms; STAT5B deficiency also needs immune and lung follow-up.
How IGF1R is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 12.2 kb of the gene's 316 kb; 4,104 of those bases code for the protein.
How a genome test reads IGF1R
38
positions in IGF1R where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 316 kb of IGF1R, introns included, not only the 12.2 kb of exons.
Genes linked to the same conditions
Traits linked to IGF1R
The Human Phenotype Ontology lists these as features of the rare conditions IGF1R can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IGF1R gene: insulin like growth factor 1 receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/igf1r
Dante Labs. IGF1R gene: insulin like growth factor 1 receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/igf1r
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