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    INSR insulin receptor [ Homo sapiens (human) ]

    Gene ID: 3643, updated on 4-Jan-2025

    Summary

    Official Symbol
    INSRprovided by HGNC
    Official Full Name
    insulin receptorprovided by HGNC
    Primary source
    HGNC:HGNC:6091
    See related
    Ensembl:ENSG00000171105 MIM:147670; AllianceGenome:HGNC:6091
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HHF5; CD220
    Summary
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 16.5), spleen (RPKM 15.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See INSR in Genome Data Viewer
    Location:
    19p13.2
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (7112265..7294414, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (7103362..7286608, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (7112276..7294425, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak3311 silencer Neighboring gene MPRA-validated peak3312 silencer Neighboring gene MPRA-validated peak3313 silencer Neighboring gene uncharacterized LOC124904625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7102509-7103010 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7103011-7103510 Neighboring gene zinc finger protein 557 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:7109747-7110266 Neighboring gene MPRA-validated peak3314 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13871 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13872 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:7197359-7198195 Neighboring gene uncharacterized LOC124904626 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7212577-7213123 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:7213124-7213669 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13874 Neighboring gene MPRA-validated peak3317 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:7257400-7258262 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7288463-7288964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7292867-7293625 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13875 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13878 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13879 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9978 Neighboring gene Rho/Rac guanine nucleotide exchange factor 18 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7438718-7439322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7439323-7439927 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13880 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:7447849-7448349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13881 Neighboring gene ARHGEF18 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:7459704-7460144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13882 Neighboring gene MPRA-validated peak3319 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7462888-7463393 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7463394-7463898 Neighboring gene MPRA-validated peak3320 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13883 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13885 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13886 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:7501123-7501310 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:7515146-7515690 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:7515691-7516233 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9981 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7541732-7542367 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:7548591-7549112 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9982 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9983 Neighboring gene Sharpr-MPRA regulatory region 6634 Neighboring gene peroxisomal biogenesis factor 11 gamma

    Genomic regions, transcripts, and products

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (17 hits/1313 screens)

    Associated conditions

    EBI GWAS Catalog

    Description
    A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
    EBI GWAS Catalog
    Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
    EBI GWAS Catalog
    Genome-wide meta-analysis for severe diabetic retinopathy.
    EBI GWAS Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Items 1 - 25 of 41
    Function Evidence Code Pubs
    enables ATP binding PubMed 
    enables GPI-linked ephrin receptor activity  
    enables GTP binding PubMed 
    enables PTB domain binding PubMed 
    enables amyloid-beta binding PubMed 
    enables boss receptor activity  
    enables brain-derived neurotrophic factor receptor activity  
    enables cargo receptor activity PubMed 
    enables epidermal growth factor receptor activity  
    enables fibroblast growth factor receptor activity  
    enables hepatocyte growth factor receptor activity  
    enables histone H2AXY142 kinase activity  
    enables histone H3Y41 kinase activity  
    enables identical protein binding PubMed 
    enables insulin binding PubMed 
    enables insulin binding PubMed 
    enables insulin receptor activity  
    enables insulin receptor activity PubMed 
    enables insulin receptor activity  
    enables insulin receptor substrate binding  
    enables insulin receptor substrate binding PubMed 
    enables insulin-like growth factor I binding PubMed 
    enables insulin-like growth factor II binding PubMed 
    enables insulin-like growth factor receptor activity  
    enables insulin-like growth factor receptor binding PubMed 
    enables macrophage colony-stimulating factor receptor activity  
    enables phosphatidylinositol 3-kinase binding PubMed 
    enables placental growth factor receptor activity  
    enables platelet-derived growth factor alpha-receptor activity  
    enables platelet-derived growth factor beta-receptor activity  
    enables protein binding PubMed 
    enables protein domain specific binding PubMed 
    enables protein kinase activator activity PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase activity PubMed 
    enables protein tyrosine kinase collagen receptor activity  
    enables protein-containing complex binding PubMed 
    enables stem cell factor receptor activity  
    enables structural molecule activity PubMed 
    enables transmembrane-ephrin receptor activity  
    enables vascular endothelial growth factor receptor activity  
    Items 1 - 25 of 41
    Items 1 - 25 of 69
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway PubMed 
    involved_in Kit signaling pathway  
    involved_in activation of protein kinase B activity PubMed 
    involved_in adrenal gland development  
    involved_in amyloid-beta clearance PubMed 
    involved_in brain-derived neurotrophic factor receptor signaling pathway  
    involved_in cell surface receptor protein tyrosine kinase signaling pathway  
    involved_in cellular response to insulin stimulus PubMed 
    involved_in chromatin remodeling  
    involved_in collagen-activated tyrosine kinase receptor signaling pathway  
    involved_in dendritic spine maintenance PubMed 
    involved_in ephrin receptor signaling pathway  
    involved_in epidermal growth factor receptor signaling pathway  
    involved_in epidermis development  
    involved_in exocrine pancreas development  
    involved_in fibroblast growth factor receptor signaling pathway  
    involved_in glucose homeostasis  
    involved_in glucose homeostasis PubMed 
    involved_in heart morphogenesis PubMed 
    involved_in hepatocyte growth factor receptor signaling pathway  
    involved_in insulin receptor signaling pathway PubMed 
    involved_in insulin receptor signaling pathway PubMed 
    involved_in insulin receptor signaling pathway  
    involved_in insulin-like growth factor receptor signaling pathway  
    involved_in learning PubMed 
    involved_in macrophage colony-stimulating factor signaling pathway  
    involved_in male gonad development  
    involved_in male sex determination  
    involved_in memory PubMed 
    involved_in multicellular organism development  
    involved_in neuron projection maintenance  
    involved_in peptidyl-tyrosine phosphorylation PubMed 
    involved_in platelet-derived growth factor receptor-alpha signaling pathway  
    involved_in platelet-derived growth factor receptor-beta signaling pathway  
    involved_in positive regulation of D-glucose import PubMed 
    involved_in positive regulation of D-glucose import PubMed 
    involved_in positive regulation of DNA-templated transcription  
    acts_upstream_of positive regulation of MAP kinase activity PubMed 
    involved_in positive regulation of MAPK cascade  
    involved_in positive regulation of MAPK cascade PubMed 
    involved_in positive regulation of MAPK cascade PubMed 
    involved_in positive regulation of cell migration PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of cell population proliferation PubMed 
    involved_in positive regulation of developmental growth PubMed 
    involved_in positive regulation of glycogen biosynthetic process PubMed 
    involved_in positive regulation of glycolytic process PubMed 
    involved_in positive regulation of meiotic cell cycle  
    involved_in positive regulation of mitotic nuclear division PubMed 
    involved_in positive regulation of nitric oxide biosynthetic process PubMed 
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction PubMed 
    involved_in positive regulation of protein phosphorylation PubMed 
    involved_in positive regulation of protein-containing complex disassembly PubMed 
    involved_in positive regulation of receptor internalization PubMed 
    involved_in positive regulation of respiratory burst PubMed 
    involved_in protein autophosphorylation PubMed 
    involved_in protein autophosphorylation PubMed 
    involved_in protein phosphorylation PubMed 
    involved_in receptor internalization  
    involved_in receptor-mediated endocytosis PubMed 
    involved_in regulation of DNA-templated transcription PubMed 
    involved_in regulation of embryonic development PubMed 
    involved_in regulation of female gonad development  
    involved_in symbiont entry into host cell PubMed 
    involved_in transport across blood-brain barrier PubMed 
    involved_in vascular endothelial growth factor receptor-1 signaling pathway  
    involved_in vascular endothelial growth factor signaling pathway  
    Items 1 - 25 of 69
    Items 1 - 20 of 23
    Component Evidence Code Pubs
    is_active_in axon  
    located_in caveola PubMed 
    colocalizes_with cell body PubMed 
    colocalizes_with dendrite PubMed 
    located_in dendrite membrane  
    located_in endosome membrane  
    located_in external side of plasma membrane  
    located_in extracellular exosome PubMed 
    part_of insulin receptor complex  
    part_of insulin receptor complex PubMed 
    part_of insulin receptor complex PubMed 
    located_in late endosome  
    located_in lysosome  
    located_in membrane PubMed 
    colocalizes_with neuronal cell body PubMed 
    located_in neuronal cell body membrane  
    colocalizes_with nuclear envelope PubMed 
    colocalizes_with nuclear lumen PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    located_in plasma membrane PubMed 
    located_in plasma membrane  
    part_of receptor complex PubMed 
    Items 1 - 20 of 23

    General protein information

    Preferred Names
    insulin receptor
    Names
    IR
    NP_000199.2
    NP_001073285.1
    XP_011526290.2
    XP_011526291.2
    XP_054176873.1
    XP_054176874.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008852.2 RefSeqGene

      Range
      4587..186736
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000208.4 → NP_000199.2  insulin receptor isoform Long preproprotein

      See identical proteins and their annotated locations for NP_000199.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (Long).
      Source sequence(s)
      AC010606, AC125387, AK025527, BC117172, BU684722, HY015976, M10051, X02160
      Consensus CDS
      CCDS12176.1
      UniProtKB/Swiss-Prot
      P06213, Q17RW0, Q59H98, Q9UCB7, Q9UCB8, Q9UCB9
      Related
      ENSP00000303830.4, ENST00000302850.10
      Conserved Domains (6) summary
      cd05061
      Location:1016 → 1303
      PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
      cd00063
      Location:867 → 944
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00064
      Location:234 → 281
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam00757
      Location:179 → 337
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:359 → 472
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:1023 → 1290
      Pkinase_Tyr; Protein tyrosine kinase
    2. NM_001079817.3 → NP_001073285.1  insulin receptor isoform Short preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (Short) has the same N- and C-termini but is shorter compared to isoform Long.
      Source sequence(s)
      AC010606, AC125387, AK025527, BC117172, BU684722, HY015976, M10051, X02160
      Consensus CDS
      CCDS42487.1
      UniProtKB/Swiss-Prot
      P06213
      Related
      ENSP00000342838.4, ENST00000341500.9
      Conserved Domains (6) summary
      cd05061
      Location:1004 → 1291
      PTKc_InsR; Catalytic domain of the Protein Tyrosine Kinase, Insulin Receptor
      cd00063
      Location:855 → 932
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd00064
      Location:234 → 281
      FU; Furin-like repeats. Cysteine rich region. Exact function of the domain is not known. Furin is a serine-kinase dependent proprotein processor. Other members of this family include endoproteases and cell surface receptors.
      pfam00757
      Location:179 → 337
      Furin-like; Furin-like cysteine rich region
      pfam01030
      Location:359 → 472
      Recep_L_domain; Receptor L domain
      pfam07714
      Location:1011 → 1278
      Pkinase_Tyr; Protein tyrosine kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      7112265..7294414 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527989.4 → XP_011526291.2  insulin receptor isoform X2

    2. XM_011527988.3 → XP_011526290.2  insulin receptor isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      7103362..7286608 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320899.1 → XP_054176874.1  insulin receptor isoform X2

    2. XM_054320898.1 → XP_054176873.1  insulin receptor isoform X1

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