Seroatlas · Human Serome Atlas

INSR

Insulin receptor

Also known as: CD220, INSR_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P06213
Gene
INSR
Ensembl
ENSG00000171105
Chromosome
19
Canonical length
1382 aa
Protein class
CD markers, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, RAS pathway related proteins
Subcellular location
Vesicles,Plasma membrane,Primary cilium transition zone,Centriolar satellite,Basal body

OverviewNCBI Gene

This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

Canonical amino-acid sequenceUniProt

1382 residues, UniProt reviewed canonical sequence.

>P06213|INSR
     1  MATGGRRGAA AAPLLVAVAA LLLGAAGHLY PGEVCPGMDI RNNLTRLHEL ENCSVIEGHL
    61  QILLMFKTRP EDFRDLSFPK LIMITDYLLL FRVYGLESLK DLFPNLTVIR GSRLFFNYAL
   121  VIFEMVHLKE LGLYNLMNIT RGSVRIEKNN ELCYLATIDW SRILDSVEDN YIVLNKDDNE
   181  ECGDICPGTA KGKTNCPATV INGQFVERCW THSHCQKVCP TICKSHGCTA EGLCCHSECL
   241  GNCSQPDDPT KCVACRNFYL DGRCVETCPP PYYHFQDWRC VNFSFCQDLH HKCKNSRRQG
   301  CHQYVIHNNK CIPECPSGYT MNSSNLLCTP CLGPCPKVCH LLEGEKTIDS VTSAQELRGC
   361  TVINGSLIIN IRGGNNLAAE LEANLGLIEE ISGYLKIRRS YALVSLSFFR KLRLIRGETL
   421  EIGNYSFYAL DNQNLRQLWD WSKHNLTITQ GKLFFHYNPK LCLSEIHKME EVSGTKGRQE
   481  RNDIALKTNG DQASCENELL KFSYIRTSFD KILLRWEPYW PPDFRDLLGF MLFYKEAPYQ
   541  NVTEFDGQDA CGSNSWTVVD IDPPLRSNDP KSQNHPGWLM RGLKPWTQYA IFVKTLVTFS
   601  DERRTYGAKS DIIYVQTDAT NPSVPLDPIS VSNSSSQIIL KWKPPSDPNG NITHYLVFWE
   661  RQAEDSELFE LDYCLKGLKL PSRTWSPPFE SEDSQKHNQS EYEDSAGECC SCPKTDSQIL
   721  KELEESSFRK TFEDYLHNVV FVPRKTSSGT GAEDPRPSRK RRSLGDVGNV TVAVPTVAAF
   781  PNTSSTSVPT SPEEHRPFEK VVNKESLVIS GLRHFTGYRI ELQACNQDTP EERCSVAAYV
   841  SARTMPEAKA DDIVGPVTHE IFENNVVHLM WQEPKEPNGL IVLYEVSYRR YGDEELHLCV
   901  SRKHFALERG CRLRGLSPGN YSVRIRATSL AGNGSWTEPT YFYVTDYLDV PSNIAKIIIG
   961  PLIFVFLFSV VIGSIYLFLR KRQPDGPLGP LYASSNPEYL SASDVFPCSV YVPDEWEVSR
  1021  EKITLLRELG QGSFGMVYEG NARDIIKGEA ETRVAVKTVN ESASLRERIE FLNEASVMKG
  1081  FTCHHVVRLL GVVSKGQPTL VVMELMAHGD LKSYLRSLRP EAENNPGRPP PTLQEMIQMA
  1141  AEIADGMAYL NAKKFVHRDL AARNCMVAHD FTVKIGDFGM TRDIYETDYY RKGGKGLLPV
  1201  RWMAPESLKD GVFTTSSDMW SFGVVLWEIT SLAEQPYQGL SNEQVLKFVM DGGYLDQPDN
  1261  CPERVTDLMR MCWQFNPKMR PTFLEIVNLL KDDLHPSFPE VSFFHSEENK APESEELEME
  1321  FEDMENVPLD RSSHCQREEA GGRDGGSSLG FKRSYEEHIP YTHMNGGKKN GRILTLPRSN
  1381  PS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against INSR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.34
Highest tissue expression
60 nTPM

Expression across tissuesHPA

Tissue

  • pancreas: 60 nTPM
  • spleen: 46 nTPM
  • ovary: 38 nTPM
  • liver: 31 nTPM
  • heart muscle: 24 nTPM
  • adrenal gland: 22 nTPM

Single-cell type

  • pancreatic acinar cells: 1,377 nCPM
  • peritubular myoid cells: 828 nCPM
  • proximal tubule cells: 673 nCPM
  • adrenal cortex cells: 650 nCPM
  • prostatic club cells: 620 nCPM
  • hepatocytes: 545 nCPM

Immune cell

  • non-classical monocyte: 13 nTPM
  • myeloid DC: 9.8 nTPM
  • intermediate monocyte: 8.8 nTPM
  • classical monocyte: 8.6 nTPM
  • plasmacytoid DC: 8.2 nTPM
  • eosinophil: 5.9 nTPM

Brain region

  • white matter: 53 nTPM
  • choroid plexus: 48 nTPM
  • pons: 48 nTPM
  • medulla oblongata: 47 nTPM
  • cerebellum: 45 nTPM
  • thalamus: 43 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about INSR.

Disease | AllUniProt

Conditions INSR is implicated in, by any mechanism.

  • Rabson-Mendenhall syndrome (RMS) MIM:262190
  • Leprechaunism (LEPRCH) MIM:246200
  • Type 2 diabetes mellitus (T2D) MIM:125853
  • Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) MIM:609968
  • Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) MIM:610549

Disease | GeneticClinVar

72 pathogenic / likely-pathogenic of 830 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Leprechaunism syndrome
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans
  • Rabson-Mendenhall syndrome
  • Hyperinsulinism due to INSR deficiency
  • Insulin resistance

Disease | ImmuneIEDB

Conditions an epitope on INSR was assayed in.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.45
gnomAD pLI
0
gnomAD missense Z
3.83
DepMap mean gene effect
-0.14
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of INSR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads INSR as an antibody target. Whether an autoantibody or antibody against INSR could matter depends on whether native INSR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

INSR is annotated at the cell surface, where native INSR is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label INSR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/INSR. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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