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INSR Gene

protein-coding   GIFtS: 78
GCID: GC19M007112

Insulin Receptor

  See INSR-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Insulin Receptor1 2     CD2202
IR2 3     CD220 Antigen3
EC 2.7.10.13 8     EC 2.7.108
HHF52 5     

External Ids:    HGNC: 60911   Entrez Gene: 36432   Ensembl: ENSG000001711057   OMIM: 1476705   UniProtKB: P062133   

Export aliases for INSR gene to outside databases

Previous GC identifers: GC19M007225 GC19M007056 GC19M007067 GC19M006847


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for INSR Gene:
After removal of the precursor signal peptide, the insulin receptor precursor is post-translationally cleaved into
two chains (alpha and beta) that are covalently linked. Binding of insulin to the insulin receptor (INSR)
stimulates glucose uptake. Two transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for INSR Gene:
INSR (insulin receptor) is a protein-coding gene. Diseases associated with INSR include hyperinsulinemic hypoglycemia, familial, 5, and donohue syndrome. GO annotations related to this gene include SH2 domain binding and GTP binding. An important paralog of this gene is ROR1.

UniProtKB/Swiss-Prot: INSR_HUMAN, P06213
Function: Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to
phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC,
GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for
other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different
phosphotyrosines residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs
proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible
for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes
and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of
PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3,
4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine
kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of
the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose
transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of
insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by
controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway
regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and
integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2
thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth,
survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers
the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind
insulin-like growth factors (IGFI and IGFII). Isoform Short has a higher affinity for IGFII binding. When present
in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and
INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly
activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1,
IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform
Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both
bind IGF1 and have a low affinity for insulin

summary for INSR Gene:
Insulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each
of which is comprised of an extracellular alpha-subunit and a transmembrane beta-subunit with intracellular
tyrosine kinase activity. IR homodimers are activated by insulin and, in adults, mediate an increase in
glucose uptake through upregulation of GLUT4 expression. Two isoforms of the IR exist: fetal IR-A and adult
IR-B.

Gene Wiki entry for INSR (Insulin receptor) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the INSR gene promoter:
         STAT1   p53   STAT1beta   NF-kappaB   E47   STAT1alpha   AREB6   S8   STAT3   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): INSR promoter sequence
   Search Chromatin IP Primers for INSR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INSR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3-p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.3-p13.2

INSR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INSR gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M007112:  view genomic region     (about GC identifiers)

Start:
7,112,266 bp from pter      End:
7,294,045 bp from pter
Size:
181,780 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: INSR_HUMAN, P06213 (See protein sequence)
Recommended Name: Insulin receptor precursor  
Size: 1382 amino acids; 156333 Da
Subunit: Tetramer of 2 alpha and 2 beta chains linked by disulfide bonds. The alpha chains carry the
insulin-binding regions, while the beta chains carry the kinase domain. Forms a hybrid receptor with IGF1R, the
hybrid is a tetramer consisting of 1 alpha chain and 1 beta chain of INSR and 1 alpha chain and 1 beta chain of
IGF1R. Interacts with SORBS1 but dissociates from it following insulin stimulation. Binds SH2B2. Activated form
of INSR interacts (via Tyr-999) with the PTB/PID domains of IRS1 and SHC1. The sequences surrounding the
phosphorylated NPXY motif contribute differentially to either IRS1 or SHC1 recognition. Interacts (via tyrosines
in the C-terminus) with IRS2 (via PTB domain and 591-786 AA); the 591-786 would be the primary anchor of IRS2 to
INSR while the PTB domain would have a stabilizing action on the interaction with INSR. Interacts with the SH2
domains of the 85 kDa regulatory subunit of PI3K (PIK3R1) in vitro, when autophosphorylated on tyrosine residues.
Interacts with SOCS7. Interacts (via the phosphorylated Tyr-999), with SOCS3. Interacts (via the phosphorylated
Tyr-1185, Tyr-1189, Tyr-1190) with SOCS1. Interacts with CAV2 (tyrosine-phosphorylated form); the interaction is
increased with 'Tyr-27'phosphorylation of CAV2 (By similarity). Interacts with ARRB2 (By similarity). Interacts
with GRB10; this interaction blocks the association between IRS1/IRS2 and INSR, significantly reduces
insulin-stimulated tyrosine phosphorylation of IRS1 and IRS2 and thus decreases insulin signaling. Interacts with
GRB7. Interacts with PDPK1. Interacts (via Tyr-1190) with GRB14 (via BPS domain); this interaction protects the
tyrosines in the activation loop from dephosphorylation, but promotes dephosphorylation of Tyr-999, this results
in decreased interaction with, and phosphorylation of, IRS1. Interacts (via subunit alpha) with ENPP1 (via
485-599 AA); this interaction blocks autophosphorylation. Interacts with PTPRE; this interaction is dependent of
Tyr-1185, Tyr-1189 and Tyr-1190 of the INSR. Interacts with STAT5B (via SH2 domain). Interacts with PTPRF
Selected PDB 3D structures from and Proteopedia for INSR (see all 23):
1GAG (3D)        1I44 (3D)        1IR3 (3D)        1IRK (3D)        1P14 (3D)        1RQQ (3D)    
Secondary accessions: Q17RW0 Q59H98 Q9UCB7 Q9UCB8 Q9UCB9
Alternative splicing: 2 isoforms:  P06213-1   P06213-2   

Explore the universe of human proteins at neXtProt for INSR: NX_P06213

Explore proteomics data for INSR at MOPED

Post-translational modifications: 

  • After being transported from the endoplasmic reticulum to the Golgi apparatus, the single glycosylated precursor
    is further glycosylated and then cleaved, followed by its transport to the plasma membrane1
  • Autophosphorylated on tyrosine residues in response to insulin. Phosphorylation of Tyr-999 is required for binding
    to IRS1, SHC1 and STAT5B. Dephosphorylated by PTPRE at Tyr-999, Tyr-1185, Tyr-1189 and Tyr-1190. Dephosphorylated
    by PTPRF and PTPN1. Dephosphorylated by PTPN2; down-regulates insulin-induced signaling1
  • Ubiquitination2 at Lys1057
  • Glycosylation2 at Asn43, Asn52, Asn105, Asn138, Asn242, Asn282, Asn322, Asn364, Asn424, Asn445,
                                 Asn541, Asn633, Asn651, Asn698, Asn769, Asn782, Asn920, Asn933
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for INSR (P06213) (see all 32)
     LMRMCWQ  DGQDACG  PESLKDG  GVVLWEI 


    See INSR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000199.2  NP_001073285.1  

    ENSEMBL proteins: 
     ENSP00000342838   ENSP00000303830   ENSP00000473170  
    Reactome Protein details: P06213

    INSR Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant INSR Protein
    R&D Systems Recombinant & Natural Proteins for INSR (Insulin R/CD220)
    Enzo Life Sciences proteins for INSR
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for INSR
    OriGene Custom MassSpec
    OriGene Custom Protein Services for INSR
    GenScript Custom Purified and Recombinant Proteins Services for INSR
    Novus Biologicals INSR Proteins
    Novus Biologicals INSR Lysate
    Sino Biological Recombinant Protein for INSR
    Sino Biological Cell Lysate for INSR
    ProSpec Recombinant Protein for INSR
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for INSR 

     
    antibodies-online proteins for INSR (20 products) 

     
    antibodies-online peptides for INSR

    INSR Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of INSR
    R&D Systems Antibodies for INSR (Insulin R/CD220)
    Cell Signaling Technology (CST) Antibodies for INSR 
    OriGene Antibodies for INSR
    OriGene Custom Antibody Services for INSR
    Novus Biologicals INSR Antibodies
    Abcam antibodies for INSR
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for INSR
    antibodies-online antibodies for INSR (232 products) 

    INSR Assay Products:

    EMD Millipore Kits and Assays for the Analysis of INSR
    OriGene Custom Assay Services for INSR
    R&D Systems ELISAs for INSR (Insulin R/CD220)         (see all)
    GenScript INSR-Activity-based Kinase Assay for Compound Screening
    Cell Signaling Technology (CST) Sandwich ELISA Kits for INSR
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for INSR 
    antibodies-online kits for INSR (28 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    CD: CD molecules

    IUPHAR Guide to PHARMACOLOGY protein family classification: Insulin receptor
    Insulin receptor (InsR) family
    Insulin receptor family

    Selected InterPro protein domains (see all 14):
     IPR017441 Protein_kinase_ATP_BS
     IPR006212 Furin_repeat
     IPR003961 Fibronectin_type3
     IPR011009 Kinase-like_dom
     IPR002011 Tyr_kinase_rcpt_2_CS

    Graphical View of Domain Structure for InterPro Entry P06213

    ProtoNet protein and cluster: P06213

    Selected Blocks protein domains (see all 6):
    IPB000494 Epidermal growth-factor receptor (EGFR)
    IPB002011 Receptor tyrosine kinase
    IPB003962 Fibronectin type III repeat signature
    IPB006211 Furin-like cysteine rich region
    IPB006212 Furin-like repeat


    UniProtKB/Swiss-Prot: INSR_HUMAN, P06213
    Domain: The tetrameric insulin receptor binds insulin via non-identical regions from two alpha chains, primarily
    via the C-terminal region of the first INSR alpha chain. Residues from the leucine-rich N-terminus of the other
    INSR alpha chain also contribute to this insulin binding site. A secondary insulin-binding site is formed by
    residues at the junction of fibronectin type-III domain 1 and 2
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 1 protein kinase domain


    Find genes that share domains with INSR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INSR_HUMAN, P06213
    Function: Receptor tyrosine kinase which mediates the pleiotropic actions of insulin. Binding of insulin leads to
    phosphorylation of several intracellular substrates, including, insulin receptor substrates (IRS1, 2, 3, 4), SHC,
    GAB1, CBL and other signaling intermediates. Each of these phosphorylated proteins serve as docking proteins for
    other signaling proteins that contain Src-homology-2 domains (SH2 domain) that specifically recognize different
    phosphotyrosines residues, including the p85 regulatory subunit of PI3K and SHP2. Phosphorylation of IRSs
    proteins lead to the activation of two main signaling pathways: the PI3K-AKT/PKB pathway, which is responsible
    for most of the metabolic actions of insulin, and the Ras-MAPK pathway, which regulates expression of some genes
    and cooperates with the PI3K pathway to control cell growth and differentiation. Binding of the SH2 domains of
    PI3K to phosphotyrosines on IRS1 leads to the activation of PI3K and the generation of phosphatidylinositol-(3,
    4, 5)-triphosphate (PIP3), a lipid second messenger, which activates several PIP3-dependent serine/threonine
    kinases, such as PDPK1 and subsequently AKT/PKB. The net effect of this pathway is to produce a translocation of
    the glucose transporter SLC2A4/GLUT4 from cytoplasmic vesicles to the cell membrane to facilitate glucose
    transport. Moreover, upon insulin stimulation, activated AKT/PKB is responsible for: anti-apoptotic effect of
    insulin by inducing phosphorylation of BAD; regulates the expression of gluconeogenic and lipogenic enzymes by
    controlling the activity of the winged helix or forkhead (FOX) class of transcription factors. Another pathway
    regulated by PI3K-AKT/PKB activation is mTORC1 signaling pathway which regulates cell growth and metabolism and
    integrates signals from insulin. AKT mediates insulin-stimulated protein synthesis by phosphorylating TSC2
    thereby activating mTORC1 pathway. The Ras/RAF/MAP2K/MAPK pathway is mainly involved in mediating cell growth,
    survival and cellular differentiation of insulin. Phosphorylated IRS1 recruits GRB2/SOS complex, which triggers
    the activation of the Ras/RAF/MAP2K/MAPK pathway. In addition to binding insulin, the insulin receptor can bind
    insulin-like growth factors (IGFI and IGFII). Isoform Short has a higher affinity for IGFII binding. When present
    in a hybrid receptor with IGF1R, binds IGF1. PubMed:12138094 shows that hybrid receptors composed of IGF1R and
    INSR isoform Long are activated with a high affinity by IGF1, with low affinity by IGF2 and not significantly
    activated by insulin, and that hybrid receptors composed of IGF1R and INSR isoform Short are activated by IGF1,
    IGF2 and insulin. In contrast, PubMed:16831875 shows that hybrid receptors composed of IGF1R and INSR isoform
    Long and hybrid receptors composed of IGF1R and INSR isoform Short have similar binding characteristics, both
    bind IGF1 and have a low affinity for insulin
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Activated in response to insulin. Autophosphorylation activates the kinase activity. PTPN1,
    PTPRE and PTPRF dephosphorylate important tyrosine residues, thereby reducing INSR activity. Inhibited by ENPP1.
    GRB10 and GRB14 inhibit the catalytic activity of the INSR, they block access of substrates to the activated
    receptor. SOCS1 and SOCS3 act as negative regulators of INSR activity, they bind to the activated INRS and
    interfere with the phosphorylation of INSR substrates

         Genatlas biochemistry entry for INSR:
    insulin receptor precursor of two subunits alpha and beta

         Enzyme Numbers (IUBMB): EC 2.7.10.11 2 EC 2.7.102

         Gene Ontology (GO): Selected molecular function terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity IMP7537849
    GO:0004714transmembrane receptor protein tyrosine kinase activity ----
    GO:0004716receptor signaling protein tyrosine kinase activity IDA6849137
    GO:0005009insulin-activated receptor activity IDA6849137
         
    Find genes that share ontologies with INSR           About GenesLikeMe


    Phenotypes:
         5 GenomeRNAi human phenotypes for INSR:
     Decreased substrate adherent c  Decreased viability in HMC1.1   Increased G1 DNA content  Increased cell death HMECs cel 
     Paclitaxel antagonistic effect 

         Selected MGI mutant phenotypes (inferred from 7 alleles(MGI details for Insr) (see all 17):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  renal/urinary system 

    Find genes that share phenotypes with INSR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for INSR: Insrtm1Jja Insrtm1Dac

       genOway: Develop your customized and physiologically relevant rodent model for INSR

    miRNA
    Products:
        
    miRTarBase miRNAs that target INSR:
    hsa-mir-26b-5p (MIRT029227)

    Block miRNA regulation of human, mouse, rat INSR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSR (see all 96):
    hsa-miR-640 hsa-miR-15a hsa-miR-128 hsa-miR-3921 hsa-miR-3916 hsa-miR-890 hsa-miR-3161 hsa-miR-1304
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for INSR
    Predesigned siRNA for gene silencing in human, mouse, rat INSR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for INSR

    Clone
    Products:
         
    OriGene clones in human, mouse for INSR (see all 13)
    OriGene ORF clones in mouse, rat for INSR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): INSR (NM_000208)
    Sino Biological Human cDNA Clone for INSR
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSR
    Addgene plasmids for INSR 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for INSR
    Browse ESI BIO Cell Lines and PureStem Progenitors for INSR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSR

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12359) for INSR 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    INSR_HUMAN, P06213: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome4
    extracellular3
    cytoskeleton2
    cytosol2
    endoplasmic reticulum2
    golgi apparatus2
    mitochondrion2
    nucleus2
    lysosome1
    peroxisome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane IDA9092559
    GO:0005899insulin receptor complex IMP15069075
    GO:0005901caveola IDA15182363
    GO:0010008endosome membrane TAS--

    Find genes that share ontologies with INSR           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for INSR About   (see all 47)  
    See pathways by source

    SuperPathContained pathways About
    1Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Type II diabetes mellitus0.35
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    2Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    Translation Regulation activity of EIF20.47
    Regulation of lipid metabolism Insulin signaling generic cascades0.59
    Transcription PPAR Pathway0.34
    Transcription Receptor mediated HIF regulation0.51
    Insulin signaling pathway0.32
    3GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    P2Y Receptor Signaling0.38
    4Insulin receptor signalling cascade
    Insulin receptor signalling cascade0.94
    IRS activation0.00
    IRS-related events0.94
    SHC activation0.00
    Signaling by Insulin receptor0.80
    Signal attenuation0.00
    SHC-related events0.00
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with INSR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for INSR
        Adipocytokines & Insulin Signaling
    Akt Signaling Pathway

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for INSR (see all 41)
        Paxillin Interactions
    Molecular Mechanisms of Cancer
    eIF2 Pathway
    Intracellular Calcium Signaling
    JNK Pathway

    2 Cell Signaling Technology (CST) Pathways for INSR
        Tyrosine Kinases / Adaptors
    Glucose / Energy Metabolism

    5 Tocris Bioscience Pathways for INSR
        Akt Pathway
    Insulin Pathway
    Apoptosis Pathway
    NF-kappaB Pathway
    mTOR Pathway

    Selected GeneGo (Thomson Reuters) Pathways for INSR (see all 6)
        Translation Insulin regulation of translation
    Transcription Receptor-mediated HIF regulation
    Transcription Transcription factor Tubby signaling pathways
    Regulation of lipid metabolism Insulin signaling-generic cascades
    Translation Regulation of EIF2 activity

    Selected BioSystems Pathways for INSR (see all 10)
        Insulin Signaling
    DNA damage response (only ATM dependent)
    AMPK signaling
    AGE/RAGE pathway
    Type II diabetes mellitus


    5 Reactome Pathways for INSR
        Insulin receptor recycling
    Signal attenuation
    SHC activation
    Signaling by Insulin receptor
    IRS activation

    1 PharmGKB Pathway for INSR
        Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for INSR) (see all 11):
        Ras signaling pathway
    Rap1 signaling pathway
    HIF-1 signaling pathway
    FoxO signaling pathway
    PI3K-Akt signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including INSR (see all 9): 
              mTOR Signaling in human mouse rat
              Insulin Signaling Pathway in human mouse rat
              Alzheimer's Disease in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Diabetes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for INSR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for INSR (P062131, 2, 3 ENSP000003038304) via UniProtKB, MINT, STRING, and/or I2D (see all 256)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191741, 2, 3, ENSP000002440074EBI-475899,EBI-79387 MINT-6805101 MINT-6805266 MINT-6805899 MINT-6805199 MINT-6805867 MINT-6805048 MINT-6805846 MINT-6805776 MINT-6805152 I2D: score=2 STRING: ENSP00000244007
    PTPN1P180311, 2, 3, ENSP000003606834EBI-475899,EBI-968788 MINT-1894192 MINT-6793759 MINT-6793683 MINT-6800433 MINT-1894168 MINT-6793586 MINT-6793770 MINT-6793645 MINT-6794946 MINT-6800469 MINT-6764950 MINT-6764790 MINT-6793333 MINT-6795135 MINT-6793622 MINT-6793734 MINT-8287625 MINT-6800815 MINT-6793569 MINT-6800357 MINT-6763841 MINT-8292392 MINT-6793701 MINT-8328741 MINT-6793603 MINT-6795340 MINT-6800410 MINT-8292379 MINT-6764587 MINT-6793552 MINT-6763855 MINT-6793665 I2D: score=5 STRING: ENSP00000360683
    GRB10Q133221, 2, 3, ENSP000003817934EBI-475899,EBI-80275 MINT-16515 MINT-8027108 MINT-16516 MINT-8030786 I2D: score=6 STRING: ENSP00000381793
    IRS2Q9Y4H22, 3, ENSP000003650164MINT-17941 MINT-17940 MINT-18199 MINT-18198 I2D: score=3 STRING: ENSP00000365016
    GRB14Q144492, 3, ENSP000002639154MINT-1894145 I2D: score=4 STRING: ENSP00000263915
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 35):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IMP17001305
    GO:0001934positive regulation of protein phosphorylation IDA7556070
    GO:0003007heart morphogenesis IMP7693131
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006355regulation of transcription, DNA-templated IMP12881524

    Find genes that share ontologies with INSR           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for INSR
      Browse compounds at ApexBio 

    Compounds for INSR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PicropodophyllotoxinSelective IGF1R inhibitor[477-47-4]
    Demethylasterriquinone B1Selective insulin RTK activator[78860-34-1]
    BMS 536924Dual IR/IGF1R inhibitor[468740-43-4]
    Insulin (human) recombinantEndogenous peptide agonist[11061-68-0]

    2 HMDB Compounds for INSR    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    Selected DrugBank Compounds for INSR (see all 11)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin Regular -- 11061-68-0targetagonist19683471 12038982 17722952 20230616 11752352 12970169
    Insulin Detemir-- 169148-63-4targetagonist11752352 18585815 20590743 10866053 16570163
    Insulin Glargine-- 160337-95-1targetagonist11752352 18585815 20424816 17922476
    Insulin Lispro-- 133107-64-9targetagonist11752352 8964871 20424816 8937933
    Insulin, porcine-- 9004-14-2targetbinder11752352 12970169 12038982
    Adenosine-5'-[Beta, Gamma-Methylene]Triphosphate-- --target--17139284 17016423
    Insulin AspartAspart (see all 6)116094-23-6targetagonist11752352 17026485
    Insulin Glulisine-- 207748-29-6targetagonist11752352 20424816
    Insulin, isophane Isophane Insulin (see all 2)53027-39-7targetagonist12970169 12038982
    Mecasermin-- 68562-41-4target--19198769

    1 IUPHAR Ligand for INSR (Insulin receptor)    About this table
    LigandTypeActionAffinityPubmed IDs
    insulin
    NoneNone--

    Selected Novoseek inferred chemical compound relationships for INSR gene (see all 117)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 89.4 1318 10517679 (6), 11223182 (5), 7683457 (5), 15135305 (5) (see all 99)
    phosphatidylinositol 83.9 223 7983060 (4), 8385139 (4), 1385401 (4), 8530404 (4) (see all 99)
    glucose 83.1 582 12948866 (5), 14669161 (4), 16956746 (4), 8826966 (4) (see all 99)
    phosphotyrosine 78.9 55 8550582 (2), 8635665 (2), 8999839 (2), 8826975 (1) (see all 41)
    glycogen 76.2 117 8643574 (5), 11459778 (3), 10623881 (2), 16574792 (2) (see all 83)
    poly(glu(80)tyr(20)) 74.9 4 1657669 (1), 8190022 (1), 7737184 (1), 7599689 (1)
    ag 1024 68.8 4 9075698 (1), 14767998 (1), 16542871 (1), 12649208 (1)
    2-deoxyglucose 68.5 19 10338114 (2), 2250023 (1), 8119950 (1), 8408055 (1) (see all 13)
    wortmannin 67.4 12 10433244 (3), 8663315 (1), 9360986 (1), 10497255 (1) (see all 8)
    serine 67 177 9345301 (5), 8550582 (4), 7929343 (4), 8916921 (4) (see all 99)



    Find genes that share compounds with INSR           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for INSR gene (2 alternative transcripts): 
    NM_000208.2  NM_001079817.1  

    Unigene Cluster for INSR:

    Insulin receptor
    Hs.465744  [show with all ESTs]
    Unigene Representative Sequence: NM_000208
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000341500(uc002mge.1 uc002mgf.3) ENST00000302850(uc002mgd.1)
    ENST00000601099 ENST00000593970 ENST00000597211 ENST00000598216 ENST00000600492

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat INSR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSR (see all 96):
    hsa-miR-640 hsa-miR-15a hsa-miR-128 hsa-miR-3921 hsa-miR-3916 hsa-miR-890 hsa-miR-3161 hsa-miR-1304
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for INSR
    Predesigned siRNA for gene silencing in human, mouse, rat INSR
    Clone
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    OriGene clones in human, mouse for INSR (see all 13)
    OriGene ORF clones in mouse, rat for INSR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): INSR (NM_000208)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSR
    Addgene plasmids for INSR 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for INSR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSR
      QuantiTect SYBR Green Assays in human, mouse, rat INSR
      QuantiFast Probe-based Assays in human, mouse, rat INSR
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12359) for INSR 

    Additional mRNA sequence: 

    AB208861.1 AK025527.1 AK300332.1 AL365454.1 BC047591.1 BC117172.1 M10051.1 M24555.1 
    X02160.1 

    10 DOTS entries:

    DT.448058  DT.100758323  DT.95271789  DT.86838262  DT.86847324  DT.91657260  DT.95271774  DT.95271778 
    DT.95342933  DT.91753992 

    Selected AceView cDNA sequences (see all 343):

    AI050912 BU607622 AA345699 AA485908 BQ773885 BM793798 CB240607 BF435401 
    BE243503 BM313013 BM711243 BM698971 BE220949 AA001106 AI174750 BX503995 
    AW299939 AA632501 AA381730 BM967125 CB306290 AA320089 AI446346 M24555 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for INSR    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
    SP1:                                                                          -                                                                           
    SP2:                                                                          -     -                                                                     
    SP3:                                                                                                                                                      


    ECgene alternative splicing isoforms for INSR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    INSR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAATATGG
    INSR Expression
    About this image


    INSR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Zygote (Early Embryonic Tissues)    fully expand to see all 2 entries
             Zygote Zygote
     
     Inner Cell Mass (Early Embryo)    fully expand to see all 2 entries
             Zygote Zygote
     
     Trophoblast (Extraembryonic Tissues)    fully expand to see all 2 entries
             Zygote Zygote
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Bone marrow-derived hematopoietic stem cells (family)
     
     Endothelium (Cardiovascular System)
             Mature brain microvascular endothelial cells
    INSR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INSR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.465744

    UniProtKB/Swiss-Prot: INSR_HUMAN, P06213
    Tissue specificity: Isoform Long and isoform Short are predominantly expressed in tissue targets of insulin
    metabolic effects: liver, adipose tissue and skeletal muscle but are also expressed in the peripheral nerve,
    kidney, pulmonary alveoli, pancreatic acini, placenta vascular endothelium, fibroblasts, monocytes, granulocytes,
    erythrocytes and skin. Isoform Short is preferentially expressed in fetal cells such as fetal fibroblasts,
    muscle, liver and kidney. Found as a hybrid receptor with IGF1R in muscle, heart, kidney, adipose tissue,
    skeletal muscle, hepatoma, fibroblasts, spleen and placenta (at protein level). Overexpressed in several tumors,
    including breast, colon, lung, ovary, and thyroid carcinomas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including INSR (see all 9): 
              mTOR Signaling in human mouse rat
              Insulin Signaling Pathway in human mouse rat
              Alzheimer's Disease in human mouse rat
              JAK / STAT Signaling Pathway in human mouse rat
              Diabetes in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for INSR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSR
    QuantiTect SYBR Green Assays in human, mouse, rat INSR
    QuantiFast Probe-based Assays in human, mouse, rat INSR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for INSR gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Insr1 , 5 insulin receptor1, 5 87.34(n)1
    96.05(a)1
      8 (1.82 cM)5
    163371  NM_010568.21  NP_034698.21 
     31509225 
    chicken
    (Gallus gallus)
    Aves INSR1 insulin receptor 77(n)
    83.82(a)
      420133  XM_001233398.3  XP_001233399.3 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3980062 insulin receptor, beta-subunit 74.62(n)    AJ132556.1 
    zebrafish
    (Danio rerio)
    Actinopterygii insra1 insulin receptor a 69.41(n)
    70.79(a)
      245699  NM_001142672.1  NP_001136144.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta InR3 germ-band shortening insulin receptor 36(a)
    (best of 3)
      93E4   --
    worm
    (Caenorhabditis elegans)
    Secernentea W02A2.43 Eukaryotic protein kinase domain 37(a)
    (best of 5)
      IV(13340752-13342502)   --


    ENSEMBL Gene Tree for INSR (if available)
    TreeFam Gene Tree for INSR (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for INSR gene
    ROR12  ROS12  NTRK22  LTK2  IGF1R2  DDR12  NTRK32  INSRR2  
    ROR22  DDR22  MUSK2  ALK2  NTRK12  
    Selected SIMAP similar genes for INSR using alignment to 3 protein entries:     INSR_HUMAN (see all proteins) (see all similar genes):
    RET    IGF1R    INSRR    ABL1    DKFZp434L0319    EPHA2
    FGR    FES    FGFR3    PTK6    tec    CSK
    RYK    FGFR2    KIT    TIE1    urf-ret    ERBB3

    Find genes that share paralogs with INSR           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for INSR (see all 4994)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs528001711,2,,4
    CInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)4 --7045313(+) CTCACC/AACATG 4 /W /L mis11Minor allele frequency- A:0.00NA 2
    rs1825522231,2,,4
    CDiabetes mellitus, non-insulin-dependent (NIDDM)4 --7066506(+) ATGCGC/TCACAG 4 T A mis10--------
    rs528367441,2,,4
    CLeprechaunism (LEPRCH)4 pathogenic17192601(-) TCGAAG/AGACAC 4 /R /G mis11Minor allele frequency- A:0.00NA 2
    VAR_0040904
    Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)4--see VAR_0040902 R S mis40--------
    rs289330851,2,4
    Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)4--see VAR_0040892 mis40--------
    VAR_0159314
    Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)4--see VAR_0159312 E D mis40--------
    VAR_0040874
    Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)4--see VAR_0040872 F V mis40--------
    rs289330841,2,4
    Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)4--see VAR_0040952 mis40--------
    rs289330831,2,4
    Leprechaunism (LEPRCH)4--see VAR_0040882 mis40--------
    VAR_0040804
    Leprechaunism (LEPRCH)4--see VAR_0040802 V A mis40--------

    HapMap Linkage Disequilibrium report for INSR (7112266 - 7294045 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for INSR (see all 32):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718085CNV Deletion23290073
    esv2667178CNV Deletion23128226
    esv1005113CNV Deletion20482838
    esv2718087CNV Deletion23290073
    esv1934161CNV Deletion18987734
    esv2675376CNV Deletion23128226
    esv2671138CNV Deletion23128226
    esv1602115CNV Deletion17803354
    esv2659640CNV Deletion23128226
    esv2718086CNV Deletion23290073

    Human Gene Mutation Database (HGMD): INSR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INSR
    DNA2.0 Custom Variant and Variant Library Synthesis for INSR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 147670   
    OMIM disorders: 246200  262190  610549  609968  
    UniProtKB/Swiss-Prot: INSR_HUMAN, P06213
  • Rabson-Mendenhall syndrome (RMS) [MIM:262190]: Severe insulin resistance syndrome characterized by
    insulin-resistant diabetes mellitus with pineal hyperplasia and somatic abnormalities. Typical features include
    coarse, senile-appearing facies, dental and skin abnormalities, abdominal distension, and phallic enlargement.
    Inheritance is autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Leprechaunism (LEPRCH) [MIM:246200]: Represents the most severe form of insulin resistance syndrome,
    characterized by intrauterine and postnatal growth retardation and death in early infancy. Inheritance is
    autosomal recessive. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]: A multifactorial disorder of glucose
    homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese
    body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance,
    hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes,
    kidneys, nerves, and blood vessels. Note=The gene represented in this entry may be involved in disease
    pathogenesis
  • Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968]: Familial hyperinsulinemic hypoglycemia
    [MIM:256450], also referred to as congenital hyperinsulinism, nesidioblastosis, or persistent hyperinsulinemic
    hypoglycemia of infancy (PPHI), is the most common cause of persistent hypoglycemia in infancy and is due to
    defective negative feedback regulation of insulin secretion by low glucose levels. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]:
    Characterized by the association of severe insulin resistance (manifested by marked hyperinsulinemia and a
    failure to respond to exogenous insulin) with the skin lesion acanthosis nigricans and ovarian hyperandrogenism
    in adolescent female subjects. Women frequently present with hirsutism, acne, amenorrhea or oligomenorrhea, and
    virilization. This syndrome is different from the type B that has been demonstrated to be secondary to the
    presence of circulating autoantibodies against the insulin receptor. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • Selected diseases for INSR (see all 28):    
    About MalaCards
    hyperinsulinemic hypoglycemia, familial, 5    donohue syndrome    acanthosis nigricans    diabetes mellitus, insulin-resistant, with acanthosis nigricans
    rabson-mendenhall syndrome    arrhythmogenic right ventricular dysplasia 8    brain cancer    insulin autoimmune syndrome
    insulin resistance    pigmentary retinopathy    hypertension, insulin resistance-related    fetal macrosomia
    diabetes mellitus, noninsulin-dependent, 2    hyperinsulinemic hypoglycemia    diabetes mellitus, noninsulin-dependent, late onset    diabetes mellitus, type 2, susceptiblity to
    diabetes mellitus, noninsulin-dependent, association with    diabetes, type 2    myotonic dystrophy type 2    berardinelli-seip congenital lipodystrophy

    11 diseases from the University of Copenhagen DISEASES database for INSR:
    Diabetes mellitus     Donohue Syndrome     Hyperinsulinism     Acanthosis nigricans
    Hyperglycemia     Polycystic ovary syndrome     Hypoglycemia     Hyperandrogenism
    Cancer     Myotonic dystrophy     Hypertension

    Find genes that share disorders with INSR           About GenesLikeMe

    Selected Novoseek inferred disease relationships for INSR gene (see all 95)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leprechaunism 91.8 43 8969282 (3), 17166446 (3), 2315274 (2), 1316988 (2) (see all 30)
    insulin resistance 90.9 454 11915930 (3), 19541767 (3), 11095457 (3), 2136726 (3) (see all 99)
    rabson-mendenhall syndrome 86.5 13 15070911 (1), 15610610 (1), 8270132 (1), 10199143 (1) (see all 12)
    insulin sensitivity 82.1 83 15853858 (4), 15671910 (4), 16225476 (3), 16510536 (2) (see all 60)
    hyperinsulinemia 80.2 64 1907347 (4), 7920895 (3), 1825641 (2), 7521493 (2) (see all 48)
    acanthosis nigricans 79 16 9104736 (3), 2180980 (2), 8621823 (1), 9872020 (1) (see all 12)
    niddm 77.8 133 1647993 (4), 7615833 (3), 9361682 (3), 8636366 (2) (see all 87)
    hyperglycemia 69.6 45 1907347 (4), 12738810 (3), 7821730 (2), 19035155 (2) (see all 29)
    polycystic ovary syndrome 69.3 37 7515389 (2), 11239554 (2), 15240646 (2), 17658524 (2) (see all 24)
    obesity 65 65 15671910 (7), 2284806 (2), 11095457 (2), 10707549 (2) (see all 48)

    Genatlas disease: INSR
    insulin resistance,type A (hyperinsulinemia,decreased insulin binding,acanthocytosis)

    Genetic Association Database (GAD): INSR
    Human Genome Epidemiology (HuGE) Navigator: INSR (75 documents)
    Tumor Gene Database (TGDB): INSR

    Export disorders for INSR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for INSR gene, integrated from 10 sources (see all 2165):
    (articles sorted by number of sources associating them with INSR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM. (PubMed id 8432414)1, 2, 4, 9 Elbein S.C.... Schumacher M.C. (Diabetes 1993)
    2. Molecular and clinical characterization of an insertional polymorphism of the insulin-receptor gene. (PubMed id 2566545)1, 2, 4 Elbein S.C. (Diabetes 1989)
    3. Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. (PubMed id 2544997)1, 2, 4 Taira M.... Makino H. (Science 1989)
    4. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. (PubMed id 2983222)1, 2, 3 Ullrich A.... Ramachandran J. (Nature 1985)
    5. Hybrid receptors formed by insulin receptor (IR) and insulin-like growth factor I receptor (IGF-IR) have low insulin and high IGF-1 affinity irrespective of the IR splice variant. (PubMed id 16831875)1, 2, 9 Slaaby R.... Brandt J. (J. Biol. Chem. 2006)
    6. Deletion of Asn281 in the alpha-subunit of the human insulin receptor causes constitutive activation of the receptor and insulin desensitization. (PubMed id 8636294)1, 2, 9 Desbois-Mouthon C.... Caron M. (J. Clin. Endocrinol. Metab. 1996)
    7. Insulin resistance-related genes and advanced left-sided colorectal adenoma. (PubMed id 17416760)1, 4, 9 Gunter M.J....Peters U. (amp 2007)
    8. Direct activation of the phosphatidylinositol 3'-kinase by the insulin receptor. (PubMed id 8276809)1, 2, 9 Van Horn D.J.... Backer J.M. (J. Biol. Chem. 1994)
    9. Polymorphisms in candidate genes for type 2 diabetes mellitus in a Mexican population with metabolic syndrome findings. (PubMed id 14693412)1, 4, 9 SA!nchez-Corona J....Hanson R.L. (Diabetes Res. Clin. Pract. 2004)
    10. Distinct modes of interaction of SHC and insulin receptor substrate-1 with the insulin receptor NPEY region via non-SH2 domains. (PubMed id 7559478)1, 2, 9 He W.... Gustafson T.A. (J. Biol. Chem. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3643 HGNC: 6091 AceView: INSR Ensembl:ENSG00000171105 euGenes: HUgn3643
    ECgene: INSR Kegg: 3643 H-InvDB: INSR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for INSR Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for INSR Genetics and Cytogenetics in Oncology and Haematology
    Wikipedia http://en.wikipedia.org/wiki/Insulin_receptor
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=INSR[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for INSR gene:
    Search GeneIP for patents involving INSR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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