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Aliases for INSR Gene

Aliases for INSR Gene

  • Insulin Receptor 2 3
  • EC 2.7.10.1 4 63
  • HHF5 3 6
  • IR 3 4
  • CD220 Antigen 4
  • EC 2.7.10 63
  • CD220 3

External Ids for INSR Gene

Previous GeneCards Identifiers for INSR Gene

  • GC19M007225
  • GC19M007056
  • GC19M007067
  • GC19M006847

Summaries for INSR Gene

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 diabetes mellitus, insulin-resistant, with acanthosis nigricans and hyperinsulinemic hypoglycemia, familial, 5. Among its related pathways are PI3K-Akt signaling pathway and GPCR Pathway. GO annotations related to this gene include GTP binding and SH2 domain binding. An important paralog of this gene is ALK.

UniProtKB/Swiss-Prot for INSR Gene

  • 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.

Tocris 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 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INSR Gene

Genomics for INSR Gene

Regulatory Elements for INSR Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for INSR Gene

Start:
7,112,255 bp from pter
End:
7,294,328 bp from pter
Size:
182,074 bases
Orientation:
Minus strand

Genomic View for INSR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for INSR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSR Gene

Proteins for INSR Gene

  • Protein details for INSR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P06213-INSR_HUMAN
    Recommended name:
    Insulin receptor
    Protein Accession:
    P06213
    Secondary Accessions:
    • Q17RW0
    • Q59H98
    • Q9UCB7
    • Q9UCB8
    • Q9UCB9

    Protein attributes for INSR Gene

    Size:
    1382 amino acids
    Molecular mass:
    156333 Da
    Quaternary structure:
    • 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-27phosphorylation 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.

    Three dimensional structures from OCA and Proteopedia for INSR Gene

    Alternative splice isoforms for INSR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INSR Gene

Proteomics data for INSR Gene at MOPED

Post-translational modifications for INSR Gene

  • 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 membrane.
  • 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 signaling.
  • Ubiquitination at Lys1057
  • Glycosylation at Asn43, Asn52, Asn105, Asn138, Asn242, Asn282, Asn322, Asn364, Asn424, Asn445, Asn541, Asn633, Asn651, Asn698, Asn769, Asn782, Asn920, and Asn933
  • Modification sites at PhosphoSitePlus

Other Protein References for INSR Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for INSR (Insulin R/CD220)
  • Cell Signaling Technology (CST) Antibodies for INSR (InsR)

Protein Products

Domains for INSR Gene

Gene Families for INSR Gene

HGNC:
  • CD :CD molecules
  • FN3 :Fibronectin type III domain containing
IUPHAR :

Suggested Antigen Peptide Sequences for INSR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P06213

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.
  • Contains 3 fibronectin type-III domains.
  • Contains 1 protein kinase domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Insulin receptor subfamily.
genes like me logo Genes that share domains with INSR: view

Function for INSR Gene

Molecular function for INSR Gene

GENATLAS Biochemistry: insulin receptor precursor of two subunits alpha and beta
UniProtKB/Swiss-Prot CatalyticActivity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: 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.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for INSR Gene

Gene Ontology (GO) - Molecular Function for INSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity IMP 7537849
GO:0004714 transmembrane receptor protein tyrosine kinase activity --
GO:0004716 receptor signaling protein tyrosine kinase activity IDA 6849137
GO:0005009 insulin-activated receptor activity IDA 6849137
genes like me logo Genes that share ontologies with INSR: view
genes like me logo Genes that share phenotypes with INSR: view

Animal Models for INSR Gene

MGI Knock Outs for INSR:

Animal Model Products

miRNA for INSR Gene

miRTarBase miRNAs that target INSR

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for INSR

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for INSR Gene

Localization for INSR Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSR Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INSR Gene COMPARTMENTS Subcellular localization image for INSR gene
Compartment Confidence
plasma membrane 5
endosome 4
extracellular 3
cytoskeleton 2
cytosol 2
endoplasmic reticulum 2
golgi apparatus 2
mitochondrion 2
nucleus 2
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for INSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 9092559
GO:0005899 insulin receptor complex IMP 15069075
GO:0005901 caveola IDA 15182363
GO:0010008 endosome membrane TAS --
genes like me logo Genes that share ontologies with INSR: view

Pathways for INSR Gene

genes like me logo Genes that share pathways with INSR: view

PCR Array Products

Gene Ontology (GO) - Biological Process for INSR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity IMP 17001305
GO:0001934 positive regulation of protein phosphorylation IDA 7556070
GO:0003007 heart morphogenesis IMP 7693131
GO:0005975 carbohydrate metabolic process IEA --
GO:0006355 regulation of transcription, DNA-templated IMP 12881524
genes like me logo Genes that share ontologies with INSR: view

Compounds for INSR Gene

(5) Tocris Compounds for INSR Gene

Compound Action Cas Number
BMS 536924 Dual IR/IGF1R inhibitor [468740-43-4]
Demethylasterriquinone B1 Selective insulin RTK activator [78860-34-1]
Insulin (human) recombinant Endogenous peptide agonist [11061-68-0]
NVP ADW 742 ATP-competitive inhibitor of IGF1R [475488-23-4]
Picropodophyllotoxin Selective IGF1R inhibitor [477-47-4]

(2) HMDB Compounds for INSR Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(11) Drugbank Compounds for INSR Gene

(1) IUPHAR Ligand for INSR Gene

Ligand Type Action Affinity Pubmed IDs
insulin None None

(117) Novoseek inferred chemical compound relationships for INSR Gene

Compound -log(P) Hits PubMed IDs
tyrosine 89.4 262
phosphatidylinositol 83.9 128
glucose 83.1 198
phosphotyrosine 78.9 44
glycogen 76.2 98
genes like me logo Genes that share compounds with INSR: view

Transcripts for INSR Gene

Unigene Clusters for INSR Gene

Insulin receptor:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for INSR

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for INSR

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for INSR Gene

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:

Relevant External Links for INSR Gene

GeneLoc Exon Structure for
INSR
ECgene alternative splicing isoforms for
INSR

Expression for INSR Gene

mRNA expression in normal human tissues for INSR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for INSR Gene

This gene is overexpressed in Pancreas (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for INSR Gene

SOURCE GeneReport for Unigene cluster for INSR Gene Hs.465744

mRNA Expression by UniProt/SwissProt for INSR Gene

P06213-INSR_HUMAN
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.
genes like me logo Genes that share expressions with INSR: view

In Situ Assay Products

Orthologs for INSR Gene

This gene was present in the common ancestor of animals.

Orthologs for INSR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INSR 35
  • 99.21 (n)
  • 99.7 (a)
INSR 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia INSR 35
  • 89.7 (n)
  • 96.57 (a)
IR-A 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INSR 35
  • 88.91 (n)
  • 95.49 (a)
INSR 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Insr 35
  • 87.34 (n)
  • 96.05 (a)
Insr 16
Insr 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INSR 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INSR 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Insr 35
  • 87.23 (n)
  • 95.79 (a)
chicken
(Gallus gallus)
Aves CTK-1 36
  • 82 (a)
OneToOne
INSR 35
  • 77 (n)
  • 83.82 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398006 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100492718 35
  • 67.83 (n)
  • 73.48 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8035 35
zebrafish
(Danio rerio)
Actinopterygii insra 35
  • 69.41 (n)
  • 70.79 (a)
insra 36
  • 69 (a)
OneToMany
insrb 36
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG3837 36
  • 28 (a)
OneToMany
CG10702 37
  • 26 (a)
InR 37
  • 36 (a)
CG3837 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea daf-2 36
  • 24 (a)
OneToMany
T25B9.5 37
  • 30 (a)
W02A2.4 37
  • 37 (a)
T21G5.1 37
  • 33 (a)
K09B11.5 37
  • 36 (a)
Y69E1A.3 37
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 40 (a)
OneToMany
Species with no ortholog for INSR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for INSR Gene

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

Paralogs for INSR Gene

Paralogs for INSR Gene

Selected SIMAP similar genes for INSR Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with INSR: view

Variants for INSR Gene

Sequence variations from dbSNP and Humsavar for INSR Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs2962 -- 7,163,054(-) CTGTT(C/T)GAGCT reference, synonymous-codon
rs2963 -- 7,163,143(-) TTATT(C/T)TGAAG reference, synonymous-codon
rs12132 -- 7,116,304(-) CCCTC(A/T)CTCCT utr-variant-3-prime
rs12642 -- 7,112,634(+) GAGCC(A/C)CAGAT utr-variant-3-prime
rs768129 -- 7,244,309(-) gtcat(C/G)tgccc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for INSR Gene

Variant ID Type Subtype PubMed ID
dgv136e55 CNV Gain 17911159
dgv393n27 CNV Gain 19166990
esv2751809 CNV Gain 17911159
dgv3708n71 CNV Gain 21882294
nsv910955 CNV Gain 21882294
nsv521213 CNV Gain 19592680
nsv458347 CNV Gain 19166990
esv2568778 CNV Insertion 19546169
esv1122975 CNV Insertion 17803354
esv2600509 CNV Insertion 19546169
esv1602115 CNV Deletion 17803354
esv2659640 CNV Deletion 23128226
nsv910956 CNV Gain 21882294
esv2667178 CNV Deletion 23128226
nsv521868 CNV Loss 19592680
esv259606 OTHER Complex 20981092
esv259876 OTHER Complex 20981092
nsv524177 CNV Loss 19592680
esv2718083 CNV Deletion 23290073
dgv395n27 CNV Gain 19166990
esv2718085 CNV Deletion 23290073
esv2718086 CNV Deletion 23290073
esv1934161 CNV Deletion 18987734
esv9300 CNV Loss 19470904
esv2673294 CNV Deletion 23128226
esv2718087 CNV Deletion 23290073
esv2671138 CNV Deletion 23128226
esv26586 CNV Loss 19812545
esv1005113 CNV Deletion 20482838
esv2718088 CNV Deletion 23290073
esv2675376 CNV Deletion 23128226
nsv510753 CNV Loss 20534489

Relevant External Links for INSR Gene

HapMap Linkage Disequilibrium report
INSR
Human Gene Mutation Database (HGMD)
INSR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSR Gene

Disorders for INSR Gene

(4) OMIM Diseases for INSR Gene (147670)

UniProtKB/Swiss-Prot

INSR_HUMAN
  • 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. {ECO:0000269 PubMed:10443650, ECO:0000269 PubMed:12023989, ECO:0000269 PubMed:17201797, ECO:0000269 PubMed:2365819, ECO:0000269 PubMed:8314008}. 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. {ECO:0000269 PubMed:12538626, ECO:0000269 PubMed:12970295, ECO:0000269 PubMed:1607067, ECO:0000269 PubMed:1730625, ECO:0000269 PubMed:2365819, ECO:0000269 PubMed:2479553, ECO:0000269 PubMed:2834824, ECO:0000269 PubMed:7538143, ECO:0000269 PubMed:7815442, ECO:0000269 PubMed:8188715, ECO:0000269 PubMed:8326490, ECO:0000269 PubMed:8419945, ECO:0000269 PubMed:8636294, ECO:0000269 PubMed:9249867, ECO:0000269 PubMed:9703342}. 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 bodys 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. {ECO:0000269 PubMed:1470163, ECO:0000269 PubMed:1607076, ECO:0000269 PubMed:7657032}. 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. {ECO:0000269 PubMed:15161766}. 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. {ECO:0000269 PubMed:10733238, ECO:0000269 PubMed:11260230, ECO:0000269 PubMed:12107746, ECO:0000269 PubMed:12970295, ECO:0000269 PubMed:1563582, ECO:0000269 PubMed:1963473, ECO:0000269 PubMed:2002058, ECO:0000269 PubMed:2168397, ECO:0000269 PubMed:2365819, ECO:0000269 PubMed:2544998, ECO:0000269 PubMed:3283938, ECO:0000269 PubMed:8243830, ECO:0000269 PubMed:8288049, ECO:0000269 PubMed:8314008, ECO:0000269 PubMed:8388389, ECO:0000269 PubMed:9175790}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(95) Novoseek inferred disease relationships for INSR Gene

Disease -log(P) Hits PubMed IDs
leprechaunism 91.8 36
insulin resistance 90.9 161
rabson-mendenhall syndrome 86.5 12
insulin sensitivity 82.1 74
hyperinsulinemia 80.2 57

Genatlas disease for INSR Gene

insulin resistance,type A (hyperinsulinemia,decreased insulin binding,acanthocytosis)

Relevant External Links for INSR

Genetic Association Database (GAD)
INSR
Human Genome Epidemiology (HuGE) Navigator
INSR
Tumor Gene Database (TGDB):
INSR
genes like me logo Genes that share disorders with INSR: view

Publications for INSR Gene

  1. Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM. (PMID: 8432414) Elbein S.C. … Schumacher M.C. (Diabetes 1993) 3 4 23 48
  2. Identification of two novel insulin receptor mutations, Asp59Gly and Leu62Pro, in type A syndrome of extreme insulin resistance. (PMID: 9175790) Rouard M. … Grigorescu F. (Biochem. Biophys. Res. Commun. 1997) 3 4 23
  3. Evidence for an interaction between the insulin receptor and Grb7. A role for two of its binding domains, PIR and SH2. (PMID: 10803466) Kasus-Jacobi A. … Burnol A.F. (Oncogene 2000) 3 4 23
  4. Evidence for association of polycystic ovary syndrome in caucasian women with a marker at the insulin receptor gene locus. (PMID: 11232039) Tucci S. … Tomer Y. (J. Clin. Endocrinol. Metab. 2001) 3 23 48
  5. A C/T single nucleotide polymorphism at the tyrosine kinase domain of the insulin receptor gene is associated with polycystic ovary syndrome. (PMID: 12477518) Siegel S. … Tomer Y. (Fertil. Steril. 2002) 3 23 48

Products for INSR Gene

  • Addgene plasmids for INSR

Sources for INSR Gene

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