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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

INSR Gene

protein-coding   GIFtS: 76
GCID: GC19M007112

insulin receptor
 Explore 153 diseases affiliated with
INSR via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for INSR    

Aliases
for INSR gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Insulin Receptor1 2     HHF52 5
CD2201 2     CD220 Antigen3
IR2 3     EC 2.7.108
EC 2.7.10.13 8     

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


Summaries
for INSR gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for INSR:
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)

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:
nsulin receptors (IRs) and insulin-like growth factor receptors (IGFRs) are formed from two subunits, each
of which is comprised of an extracellular ?-subunit and a transmembrane ?-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. IGF1R homodimers are activated by IGF-I and IGF-II and mediate pre- and postnatal growth. IGF2R
sequesters IGF-II and acts to regulate its levels. IR-IGF1R heterodimers exist and, similar to IGF1R
homodimers, are activated by IGF-I and IGF-II. IRs and IGFRs mediate their intracellular actions through the
PI3K and RAS/RAF/MAPK signaling pathways and downstream effectors include mTOR, p70 S6 kinase, ERK and JNK.
Many tumors have altered expression of IGF1R and its ligands and this constitutes an early, possible
initiating, event in tumorigenesis. Decreases in IR signaling causing 'insulin resistance' is a major
component in the development of type 2 diabetes and congenital mutations in the IR can cause the fatal
Donohue syndrome.

Gene Wiki entry for INSR (Insulin receptor)


Genomic Views
for INSR 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011255.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for INSR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 7,294,011 bp from pter
Size:
 181,746 bases      Orientation:
 minus strand

Proteins
for INSR gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Cell membrane; Single-pass type I membrane protein
6/22 PDB 3D structures from and Proteopedia for INSR (see all 22):
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

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 PTPN11
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P06213

    • 4/32 DME Specific Peptides for INSR (P06213) (see all 32)
     LMRMCWQ  DGQDACG  PESLKDG  RDLAARN 

    INSR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000303830   ENSP00000342838  
    Reactome Protein details: P06213
    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 (see all 3): INSR
    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
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005625soluble fraction ----
    GO:0005634nucleus ----
    GO:0005768endosome ----
    GO:0005792microsome ----
    GO:0005829cytosol ----


    INSR for ontologies           About GeneDecksing



    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: INSR
    OriGene Custom Antibody Services for INSR 
    GenScript Custom Superior Antibodies Services for INSR
    Novus Biologicals INSR Antibodies
    Abcam antibodies for INSR 
    Browse Antibodies at Uscn
    ThermoFisher Antibody for INSR

    Assay Products for INSR: 
    EMD Millipore Kits and Assays for the Analysis of INSR
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    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 and CLIAs at Uscn

    Protein Domains /
    Families
    for INSR gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    INSR for domains           About GeneDecksing

    5/14 InterPro domains/families (see all 14):
     IPR017441 Protein_kinase_ATP_BS
     IPR006212 Furin_repeat
     IPR000494 EGF_rcpt_L
     IPR016246 Tyr_kinase_insulin-like_rcpt
     IPR003961 Fibronectin_type3

    Graphical View of Domain Structure for InterPro Entry P06213

    ProtoNet protein and cluster: P06213

    5/6 Blocks protein families (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


    Function
    for INSR gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): INSR
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat INSR
    8/96 QIAGEN miScript miRNA 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:            		EMD Millipore RNAi Products for the Analysis of INSR Gene knock-down
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for INSR (see all 7)
    OriGene shRNA RFP: INSR
    OriGene siRNA: INSR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat INSR

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

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INSR (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INSR (see all 3)
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSR 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for INSR
    Search LifeMap BioReagents cell lines for INSR

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSR

    Gene Ontology (GO): 5/21 molecular function terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity IMP7537849
    GO:0004716receptor signaling protein tyrosine kinase activity IDA6849137
    GO:0005009insulin-activated receptor activity IDA6849137
    GO:0005159insulin-like growth factor receptor binding IDA8452530


    INSR for ontologies           About GeneDecksing


    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 

    Animal Models:
         Mouse knock-outs for INSR: Insrtm1Jja Insrtm1Dac
         15/16 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Insr) (see all 16):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  liver/biliary system 
     mortality/aging  muscle  nervous system  renal/urinary system  reproductive system 

    INSR for phenotypes           About GeneDecksing


    Pathways & Interactions
    for INSR gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/42 super-pathways (see all 42) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Development_CNTF receptor signaling
    8/9 pathways (see all 9)
    		Transcription Receptor-mediated HIF regulation0.43
    		Translation Insulin regulation of translation0.35
    		Transcription_Receptor-mediated HIF regulation0.43
    		Translation _Regulation of EIF2 activity0.25
    		Regulation of lipid metabolism_Insulin signaling-generic cascades0.35
    		Translation Regulation activity of EIF20.25
    		Translation_Insulin regulation of translation0.35
    		Insulin signaling pathway0.17
    2GPCR Pathway
    		GPCR Pathway1.00
    		Estrogen Pathway0.55
    		Ras Pathway0.62
    		Pancreatic Adenocarcinoma0.55
    		Breast Cancer Regulation by Stathmin10.58
    		Paxillin Interactions0.53
    		NFAT in Immune Response0.58
    		P2Y Receptor Signaling0.38
    3Internalisation of the insulin receptor
    		Internalisation of the insulin receptor1.00
    		IRS activation0.40
    		SHC activation0.67
    		Signal attenuation0.15
    		Re-integration of insulin receptor into plasma membrane0.50
    4Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    5Nanog in Mammalian ESC Pluripotency
    		Nanog in Mammalian ESC Pluripotency1.00
    		14-3-3 Induced Intracellular Signaling0.59
    		GSK3 Signaling0.61
    		eNOS Signaling0.48

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/7 EMD Millipore Pathways for INSR (see all 7)
        Transcription Transcription factor Tubby signaling pathways
    Transcription PPAR Pathway
    Translation Insulin regulation of translation
    Translation Regulation activity of EIF2
    Selected targets of GCR-alpha

    1 R&D Systems Pathway for INSR
        Adipocytokines & Insulin Signaling

    5/41 Downloadable PowerPoint Slides of QIAGEN 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

    5/6 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

    5/10 BioSystems Pathways for INSR (see all 10) 
        DNA damage response (only ATM dependent)
    AGE/RAGE pathway
    AMPK signaling
    Insulin Signaling
    Type II diabetes mellitus

    5/11        Reactome Pathways for INSR (see all 11)
        Insulin receptor recycling
    SHC-related events
    Insulin receptor signalling cascade
    Internalisation of the insulin receptor
    IRS-related events

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

    4         Kegg Pathways  (Kegg details for INSR):
        Adherens junction
    Insulin signaling pathway
    Type II diabetes mellitus
    Aldosterone-regulated sodium reabsorption


    INSR for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for INSR

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

    5/228 Interacting proteins for INSR (P062132, 3 ENSP000003038304) via UniProtKB, MINT, STRING, and/or I2D (see all 228)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191742, 3, ENSP000002440074MINT-6805101 MINT-6805266 MINT-6805899 MINT-6805199 MINT-6805867 MINT-6805048 MINT-6805846 MINT-6805776 MINT-6805152 I2D: score=2 STRING: ENSP00000244007
    PTPN1P180312, 3, ENSP000003606834MINT-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
    GRB10Q133222, 3, ENSP000003817934MINT-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): 5/54 biological process terms (GO ID links to tree view) (see all 54):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000187activation of MAPK activity IMP17001305
    GO:0001933negative regulation of protein phosphorylation ----
    GO:0001934positive regulation of protein phosphorylation IDA7556070
    GO:0003007heart morphogenesis IMP7693131
    GO:0005975carbohydrate metabolic process IEA--


    INSR for ontologies           About GeneDecksing



    Drugs & Compounds
    for INSR gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    INSR for compounds           About GeneDecksing

    EMD Millipore small molecules for INSR:
    Small Molecule - inhibitor
    Enzo Life Sciences drugs & compounds for INSR

    Compounds for INSR available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Demethylasterriquinone B1Selective insulin RTK activator[78860-34-1]
    PQ 401IGF1R inhibitor[196868-63-0]
    Insulin (human) recombinant expressed in yeastEndogenous 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--

    10 DrugBank Compounds for INSR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin recombinant-- 9004-10-8targetagonist19683471 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
    Mecasermin-- 68562-41-4target--19198769
    [4-({5-(AMINOCARBONYL)-4-[(3-METHYLPHENYL)AMINO]PYRIMIDIN-2-YL}AMINO)PHENYL]ACETIC ACID-- --target--10592235

    10/117 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about INSR 

    Transcripts
    for INSR gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000302850(uc002mgd.1) ENST00000341500(uc002mge.1 uc002mgf.3)


    miRNA
    Products:             		 OriGene 3'-UTR Clone (see all 2): INSR
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat INSR
    8/96 QIAGEN miScript miRNA 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:             		EMD Millipore RNAi Products for the Analysis of INSR Gene knock-down
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for INSR (see all 7)
    OriGene shRNA RFP: INSR
    OriGene siRNA: INSR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat INSR
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for INSR (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for INSR (see all 3)
    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 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for INSR
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat INSR
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INSR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat INSR

    Additional cDNA sequence: 

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

    24/28 DOTS entries (see all 28):

    DT.100758323  DT.448058  DT.95271789  DT.91753992  DT.121459536  DT.95193134  DT.86847324  DT.97768135 
    DT.424379  DT.424399  DT.86838262  DT.91657260  DT.91797824  DT.91961368  DT.91986979  DT.92023853 
    DT.92026964  DT.95133870  DT.95253807  DT.95271774  DT.95271778  DT.95342933  DT.95360812  DT.40128187 

    24/343 AceView cDNA sequences (see all 343):

    BQ773885 AA320089 X02160 AI446346 F16838 AA485908 BU849926 BM967125 
    BM711373 AA345699 BM666224 BF435401 BP381236 AA342446 AI433276 AI050912 
    BM698971 CB240607 CB306290 BM718583 BQ024669 BE243503 AA381730 BM967349 

    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

    Expression
    for INSR gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    INSR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAAAATATGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    INSR expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Early Embryo (Zygote)Morula8-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)ZygoteZygoteEarly Embryo
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mature brain microvascular endothelial cells (Derivation of blood-...)

    See INSR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for INSR

    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

        SABiosciences Expression via Pathway-Focused 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 genome-wide validated SYBR primer pairs in human, mouse, rat for INSR
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat INSR
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat INSR
    QIAGEN 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
    for INSR gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for INSR gene from 5/20 species (see all 20)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves INSR1 insulin receptor 77.02(n)
    83.87(a)    		   420133  XM_001233398.2  XP_001233399.2 
    African clawed frog
    (Xenopus laevis)    		 Amphibia LOC3980062 insulin receptor, beta-subunit 74.62(n)    AJ132556.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii insra1 insulin receptor a 68.9(n)
    70.14(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
    for INSR gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for INSR gene
    ROR12  ROS12  LTK2  NTRK22  IGF1R2  DDR12  NTRK32  ROR22  
    INSRR2  DDR22  MUSK2  ALK2  NTRK12  
    18/23 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

    INSR for paralogs           About GeneDecksing



    Genomic Variants
    for INSR gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/4192 NCBI SNPs in INSR are shown (see all 4192)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219131561,2
    		Cpathogenic7120688(-) TGTACA/GGTGGA 4 Q R mis10--------
    rs1219131441,2
    		Cpathogenic7125473(-) TCCTTC/TGAGAG 4 R * stg10--------
    rs17998161,2
    		C,F,pathogenic7125518(-) TGTACG/ATGCCG 4 /M /V mis14Minor allele frequency- A:0.01NA EU 5879
    rs528367441,2
    		Cpathogenic7267836(-) TCGAAA/C/G/T 
                GACAC     		8 R G * mis1 stg11NA 2
    rs747724551,2
    		--6960831(+) CTTTCC/TGTTTT 1 -- ut510--------
    rs1133857841,2
    		C,--6961603(+) TGGGCG/ATGGTG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1130974271,2
    		--6961822(+) AGGCCG/AAGGCA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1119004131,2
    		--6962043(+) ACAGAA/GCCAGA 1 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs734907431,2
    		C,--6962157(+) CCAAAT/CTGCAA 1 -- us2k12Minor allele frequency- C:0.10WA 120
    rs734907441,2
    		C,--6962184(+) AAATTC/ATTTAA 1 -- us2k12Minor allele frequency- A:0.10WA 120

    HapMap Linkage Disequilibrium report for INSR (7112266 - 7294011 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 11 variations for INSR
         6 CNVs: 53487 34508 8863 53678 8862 67452
         5 Indels: 102781 102782 61667 45813 26370
    Human Gene Mutation Database (HGMD): INSR

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing INSR
    DNA2.0 Custom Variant and Variant Library Synthesis for INSR

    Disorders / Diseases
    for INSR gene

    (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
    INSR for disorders           About GeneDecksing

    OMIM gene information: 147670   
    OMIM disorders: 246200  262190  610549  609968  
    UniProtKB/Swiss-Prot: INSR_HUMAN, P06213
  • Defects in INSR are the cause of Rabson-Mendenhall syndrome (RMS) [MIM:262190]; also known as Mendenhall
    • syndrome. RMS is a 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
  • Defects in INSR are the cause of leprechaunism (LEPRCH) [MIM:246200]; also known as Donohue syndrome.
    • Leprechaunism 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
  • Defects in INSR may be associated with noninsulin-dependent diabetes mellitus (NIDDM) [MIM:125853]; also known
    • as diabetes mellitus type 2
  • Defects in INSR are the cause of familial hyperinsulinemic hypoglycemia type 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
  • Defects in INSR are the cause of insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN
    • type A) [MIM:610549]. This syndrome is 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

    20/153 diseases for INSR (see all 153):    About MalaCards
    diabetes mellitus, insulin-resistant, with acanthosis nigricans    insulin resistance    donohue syndrome    rabson-mendenhall syndrome
    acanthosis nigricans    hyperinsulinemic hypoglycemia, familial, 5    congenital fiber-type disproportion    hyperinsulinemic hypoglycemia
    attention deficit hyperactivity disorder    myotonic dystrophy    retinol binding protein    human immunodeficiency virus infectious disease
    glucose intolerance    diabetes mellitus    fetal macrosomia    myotonic dystrophy type 2
    myotonic dystrophy type 1    polycystic ovary syndrome    growth hormone deficiency    anaplastic large cell lymphoma

    3 diseases from the University of Copenhagen DISEASES database for INSR:
    Donohue Syndrome     Polycystic ovary syndrome     Diabetes mellitus

    10/95 Novoseek 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

    Publications
    for INSR gene

    (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)
    About This Section

    PubMed articles for INSR gene, integrated from 9 sources (see all 2137):
    (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. (1993)
    2. Molecular and clinical characterization of an insertional polymorphism of the insulin-receptor gene. (PubMed id 2566545)1, 2, 4 Elbein S.C. (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. (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. (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. (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. (1996)
    7. Direct activation of the phosphatidylinositol 3'-kinase by the insulin receptor. (PubMed id 8276809)1, 2, 9 Van Horn D.J.... Backer J.M. (1994)
    8. Polymorphisms in candidate genes for type 2 diabetes mellitus in a Mexican population with metabolic syndrome findings. (PubMed id 14693412)1, 4, 9 Sanchez-Corona J....Hanson R.L. (2004)
    9. 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. (1995)
    10. Activation of glucose transport by a natural mutation in the human insulin receptor. (PubMed id 8419945)1, 2, 9 Longo N.... Elsas L.J. (1993)

    External Searches for INSR gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing INSR gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3643 HGNC: 6091 AceView: INSR Ensembl:ENSG00000171105 euGenes: HUgn3643
    ECgene: INSR Kegg: 3643 H-InvDB: INSR

    Other Databases showing INSR gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing INSR gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/INSR

    Intellectual Property
    for INSR gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



    Products
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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     EMD Millipore Mono- and Polyclonal Antibodies for the study of INSR
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