Insulin-Like Growth Factor 1 Receptor

Alternative Names

  • IGF1R
  • IGF-I Receptor
  • CD221 Antigen
  • IGFR
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OMIM Number

147370

NCBI Gene ID

3480

Uniprot ID

P08069

Length

315992 bases

No. of Exons

26

No. of isoforms

1

Protein Name

Insulin-like growth factor 1 receptor

Molecular Mass

154793Da

Amino Acid Count

1367

Genomic Location

chr15:98648539-98964530

Gene Map Locus
15q26.3

Description

The IGF1R gene consists of 26 exons and it encodes a transmembrane protein called insulin-like growth factor 1 receptor (IGF1 receptor). IGF1 receptor binds to insulin-like growth factor 1 (IGF1) activating the PI3K-AKT/PKB pathway and the Ras-MAPK pathway that play a key role in the regulation of cell growth and cell survival. Variations in IGF1R gene are associated with IGF-I resistance and ring chromosome 15. IGF1R gene mutations are known to reduce the number of IGF1 receptors in affected individuals which can interfere with the normal functioning of the signalling pathways it is involved in. This results in intrauterine and postnatal growth retardation. Additionally, IGF1R gene is also implicated in several types of cancer.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000618.5:c.292C>TSaudi ArabiaNC_000012.12:g.102419619G>APathogenicPathogenicInsulin-like Growth Factor I, Resistance toNG_011713.1:g.65982C>T; NM_000618.5:c.292C>T; NP_000609.1:p.Arg98Trp587779350127243
NM_000875.4:c.361G>ALebanonNC_000015.10:g.98707828G>AProtectiveLikely Pathogenic, ProtectiveInsulin-like Growth Factor I, Resistance toNG_009492.1:g.63297G>A; NM_000875.4:c.361G>A; NP_000866.1:p.Glu121Lys1555434208446754
NM_000875.4:c.700G>ALebanonNC_000015.10:g.98891384G>AProtectiveLikely Pathogenic, ProtectiveInsulin-like Growth Factor I, Resistance toNG_009492.1:g.246853G>A; NM_000875.4:c.700G>A; NP_000866.1:p.Glu234Lys1253103806446755
NM_000875.5:c.119G>TLebanonNC_000015.10:g.98707586G>TPathogenic, ProtectiveInsulin-like Growth Factor I, Resistance toNG_009492.1:g.63055G>T; NM_000875.5:c.119G>T; NP_000866.1:p.Arg40Leu1409058783446756

Other Reports

United Arab Emirates

Alkhayyal et al. 2020 studied insulin-like growth factor 1 receptor (IGF1R) expression in patients with different molecular subtypes of breast cancer. The study included 50 patients diagnosed with invasive ductal carcinoma, invasive lobular carcinoma, or medullary carcinoma and treated surgically at Sharjah Breast Care Centre between May 2013 and March 2019. Immunohistochemical analysis revealed IGF1R staining in 97% each of estrogen receptor-positive (ER+) cases and progesterone receptor-positive (PR+) cases. All human epidermal growth factor receptor 2-positive (HER2+) cases and 88.8% of human epidermal growth factor receptor 2-negative (HER2) cases were IGF1R+. Significant correlation was noted between ER+ and IGF1R expression.

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