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Gene

INSR

insulin receptor

Summary

Cytogenetic location
19p13.2
Coordinates
Chromosome 19: 7,112,265–7,294,414 (GRCh38)
Exons
22 exons across 182.2 kb
Protein
1,382 amino acids
Inheritance
Autosomal recessive
Also known as
CD220
MANE Select transcript
ENST00000302850.10NM_000208.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hyperinsulinism

    • Abnormally high levels of insulin in the blood.

      • 3 GenCC submitters rate it definitive or strong

  • Severe Inherited Insulin Resistance

    • Insulin-resistance syndrome type A

      Severe insulin resistance with acanthosis nigricans and high androgens, usually recognised in adolescent girls and sometimes resembling polycystic ovary syndrome.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
    • Donohue syndromeAutosomal recessive

      The most severe form of insulin receptor deficiency, with growth restriction and extreme insulin resistance from birth.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Rabson-Mendenhall syndromeAutosomal recessive

      Severe insulin resistance from childhood with growth, dental and skin features, caused by variants in both copies of INSR.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How INSR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 19, with a bracket where INSR sits. INSR and 31 genes near it on chromosome 19, from 6,703,340 to 7,703,339.Chromosome 1919p13.2p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.436.8 Mb7 Mb7.2 Mb7.4 Mb7.6 MbC3: 6,677,704–6,730,562, reverse strandC3GPR108: 6,729,914–6,737,665, reverse strandGPR108TRIP10: 6,737,925–6,751,530, forward strandTRIP10SH2D3A: 6,751,899–6,768,109, reverse strandSH2D3AVAV1: 6,772,676–6,857,366, forward strandVAV1ADGRE1: 6,887,530–6,940,459, forward strandADGRE1MBD3L2B: 7,018,969–7,021,431, reverse strandMBD3L5: 7,030,578–7,033,011, forward strandMBD3L4: 7,037,749–7,040,179, reverse strandMBD3L4MBD3L2: 7,049,321–7,051,735, forward strandMBD3L2MBD3L3: 7,056,207–7,069,665, reverse strandMBD3L3ZNF557: 7,069,416–7,096,206, forward strandZNF557INSR: 7,112,265–7,294,414, reverse strandINSRARHGEF18: 7,348,931–7,472,485, forward strandARHGEF18PEX11G: 7,476,869–7,497,449, reverse strandPEX11GSAXO5: 7,492,976–7,509,030, forward strandSAXO5: 7,507,052–7,519,622, forward strandZNF358: 7,515,292–7,521,027, forward strandZNF358MCOLN1: 7,522,611–7,534,009, forward strand: 7,533,595–7,540,059, forward strandPNPLA6: 7,534,004–7,561,764, forward strandCAMSAP3: 7,595,826–7,618,352, forward strandCAMSAP3XAB2: 7,619,523–7,629,573, reverse strandXAB2PET100: 7,629,711–7,631,956, forward strandPET100: 7,629,796–7,647,477, forward strandPCP2: 7,631,611–7,635,831, reverse strandPCP2STXBP2: 7,636,772–7,647,875, forward strandRETN: 7,669,044–7,670,456, forward strandMCEMP1: 7,677,056–7,679,834, forward strand: 7,678,501–7,682,854, forward strandTRAPPC5: 7,680,823–7,687,703, forward strandFCER2: 7,688,758–7,702,146, reverse strandFCER2Diagram of INSR: 22 exons on the reverse strand of chromosome 19Exon 21: 1 known disease-causing siteExon 20: 2 known disease-causing sitesExon 19: 2 known disease-causing sitesExon 18: 1 known disease-causing siteExon 17: 4 known disease-causing sitesExon 14: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 22: 7,112,265–7,117,410, 5,146 basesExon 21: 7,119,449–7,119,583, 135 basesExon 20: 7,120,620–7,120,749, 130 basesExon 19: 7,122,614–7,122,773, 160 basesExon 18: 7,122,879–7,122,989, 111 basesExon 17: 7,125,283–7,125,527, 245 basesExon 16: 7,126,584–7,126,651, 68 basesExon 15: 7,128,852–7,128,954, 103 basesExon 14: 7,132,158–7,132,317, 160 basesExon 13: 7,141,677–7,141,816, 140 basesExon 12: 7,142,816–7,143,090, 275 basesExon 11: 7,150,497–7,150,532, 36 basesExon 10: 7,152,726–7,152,927, 202 basesExon 9: 7,163,032–7,163,199, 168 basesExon 8: 7,166,154–7,166,404, 251 basesExon 7: 7,167,968–7,168,094, 127 basesExon 6: 7,170,537–7,170,751, 215 basesExon 5: 7,172,290–7,172,434, 145 basesExon 4: 7,174,583–7,174,731, 149 basesExon 3: 7,184,316–7,184,637, 322 basesExon 2: 7,267,345–7,267,896, 552 basesExon 1: 7,293,792–7,294,414, 623 bases22201510515′3′

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 9.5 kb of the gene's 182.2 kb; 4,149 of those bases code for the protein.

How a genome test reads INSR

23

positions in INSR 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 182.2 kb of INSR, introns included, not only the 9.5 kb of exons.

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

APA

Dante Labs. (n.d.). INSR gene: insulin receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/insr

Vancouver

Dante Labs. INSR gene: insulin receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/insr

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