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IRS4 Gene

protein-coding   GIFtS: 65
GCID: GC0XM107975

Insulin Receptor Substrate 4

  See IRS4-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 Receptor Substrate 41 2     pp1602 3
Phosphoprotein Of 160 KDa2 3     PY1602
160 KDa Phosphotyrosine Protein2 3     py1603
IRS-42 3     

External Ids:    HGNC: 61281   Entrez Gene: 84712   Ensembl: ENSG000001331247   OMIM: 3009045   UniProtKB: O146543   

Export aliases for IRS4 gene to outside databases

Previous GC identifers: GC0XM103383 GC0XM105051 GC0XM106008 GC0XM106747 GC0XM106171 GC0XM107781 GC0XM107862 GC0XM097599


(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 IRS4 Gene:
IRS4 encodes the insulin receptor substrate 4, a cytoplasmic protein that contains many potential tyrosine and
serine/threonine phosphorylation sites. Tyrosine-phosphorylated IRS4 protein has been shown to associate with
cytoplasmic signalling molecules that contain SH2 domains. The IRS4 protein is phosphorylated by the insulin
receptor tyrosine kinase upon receptor stimulation.. (provided by RefSeq, Jul 2008)

GeneCards Summary for IRS4 Gene:
IRS4 (insulin receptor substrate 4) is a protein-coding gene. Diseases associated with IRS4 include cribriform carcinoma, and boutonneuse fever. GO annotations related to this gene include SH3/SH2 adaptor activity and phospholipid binding. An important paralog of this gene is IRS1.

UniProtKB/Swiss-Prot: IRS4_HUMAN, O14654
Function: Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such
as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2
domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD
phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis.
Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in
nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of
hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in
response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth,
reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing
the function of IRS1 and IRS2

Gene Wiki entry for IRS4 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_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IRS4 gene promoter:
         HOXA3   Sp1   Lmo2   MIF-1   Tal-1beta   YY1   POU2F1   POU2F1a   ARP-1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIRS4 promoter sequence
   Search Chromatin IP Primers for IRS4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IRS4


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

Entrez Gene cytogenetic band: Xq22.3   Ensembl cytogenetic band:  Xq22.3   HGNC cytogenetic band: Xq22.3

IRS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IRS4 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM107975:  view genomic region     (about GC identifiers)

Start:
107,975,712 bp from pter      End:
107,979,651 bp from pter
Size:
3,940 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IRS4_HUMAN, O14654 (See protein sequence)
Recommended Name: Insulin receptor substrate 4  
Size: 1257 amino acids; 133768 Da
Subunit: Interacts with SOCS6 in response to stimulatiom with either insulin or IGF1 (By similarity). Interacts
with CRK and CRKL. Interaction with CRK is stronger than with CRKL. Interacts with CRK via the phosphorylated
YXXM motifs. Interacts with GRB2 and PIK3R1. Interacts with PLC-gamma, SHC1, PTK6, PPP4C and NISCH

Explore the universe of human proteins at neXtProt for IRS4: NX_O14654

Explore proteomics data for IRS4 at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues in response to both insulin and IGF1 signaling. Phosphorylated on Tyr-921 in
    response to FGF2 signaling. Phosphorylation of Tyr-921 is required for GRB2, phospholipase C-gamma and
    phosphatidylinositol 3-kinase interaction1
  • Ubiquitination2 at Lys240, Lys618, Lys803, Lys835, Lys843, Lys928
  • Modification sites at PhosphoSitePlus

  • See IRS4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003595.1  
    ENSEMBL proteins: 
     ENSP00000361202  
    Reactome Protein details: O14654

    IRS4 Human Recombinant Protein Products:

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    Novus Biologicals IRS4 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for IRS4

     
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    EMD Millipore Mono- and Polyclonal Antibodies for the study of IRS4
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    LSBio Antibodies in human, mouse, rat for IRS4

    IRS4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for IRS4
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    Search eBioscience for ELISAs for IRS4 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR002404 Insln_rcpt_S1
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry O14654

    ProtoNet protein and cluster: O14654

    2 Blocks protein domains:
    IPB001849 Pleckstrin-like
    IPB002404 Insulin receptor substrate-1 PTB domain signature


    UniProtKB/Swiss-Prot: IRS4_HUMAN, O14654
    Similarity: Contains 1 IRS-type PTB domain
    Similarity: Contains 1 PH domain


    Find genes that share domains with IRS4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: IRS4_HUMAN, O14654
    Function: Acts as an interface between multiple growth factor receptors possessing tyrosine kinase activity, such
    as insulin receptor, IGF1R and FGFR1, and a complex network of intracellular signaling molecules containing SH2
    domains. Involved in the IGF1R mitogenic signaling pathway. Promotes the AKT1 signaling pathway and BAD
    phosphorylation during insulin stimulation without activation of RPS6KB1 or the inhibition of apoptosis.
    Interaction with GRB2 enhances insulin-stimulated mitogen-activated protein kinase activity. May be involved in
    nonreceptor tyrosine kinase signaling in myoblasts. Plays a pivotal role in the proliferation/differentiation of
    hepatoblastoma cell through EPHB2 activation upon IGF1 stimulation. May play a role in the signal transduction in
    response to insulin and to a lesser extent in response to IL4 and GH on mitogenesis. Plays a role in growth,
    reproduction and glucose homeostasis. May act as negative regulators of the IGF1 signaling pathway by suppressing
    the function of IRS1 and IRS2
    Induction: Down-regulated by PPP4C in a phosphatase activity-dependent manner

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004871signal transducer activity IEA--
    GO:0005070SH3/SH2 adaptor activity TAS9261155
    GO:0005158insulin receptor binding IEA--
    GO:0005515protein binding IPI11316748
         
    Find genes that share ontologies with IRS4           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Irs4):
     behavior/neurological  growth/size/body  homeostasis/metabolism  reproductive system 

    Find genes that share phenotypes with IRS4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Irs4tm1Lhd for IRS4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IRS4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IRS4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IRS4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IRS4

    miRNA
    Products:
        
    miRTarBase miRNAs that target IRS4:
    hsa-mir-18a-5p (MIRT050656), hsa-mir-484 (MIRT042143), hsa-mir-16-5p (MIRT051115), hsa-mir-615-3p (MIRT040218), hsa-mir-125b-5p (MIRT046069), hsa-mir-330-5p (MIRT038245), hsa-mir-191-5p (MIRT045789), hsa-mir-744-5p (MIRT037488), hsa-mir-193b-3p (MIRT041502), hsa-mir-331-3p (MIRT043291), hsa-mir-18a-3p (MIRT040876), hsa-mir-652-3p (MIRT039541), hsa-let-7b-5p (MIRT052242), hsa-let-7e-5p (MIRT051562), hsa-mir-222-3p (MIRT046599)

    Block miRNA regulation of human, mouse, rat IRS4 using miScript Target Protectors
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    Predesigned siRNA for gene silencing in human, mouse, rat IRS4

    Gene Editing
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    OriGene clones in human, mouse for IRS4 (see all 7)
    OriGene ORF clones in mouse, rat for IRS4
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    GenScript: all cDNA clones in your preferred vector: IRS4 (NM_003604)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IRS4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IRS4

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRS4


    (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
    IRS4_HUMAN, O14654: Cell membrane; Peripheral membrane protein; Cytoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    extracellular2
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with IRS4           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 IRS4 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Translation Insulin regulation of translation
    Transcription Receptor mediated HIF regulation0.51
    Insulin signaling pathway0.32
    2Insulin receptor signalling cascade
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    IRS-related events triggered by IGF1R0.92
    IGF1R signaling cascade0.92
    3Signaling by GPCR
    Signal Transduction0.58
    4ERK Signaling
    ILK Signaling0.49
    5TGF-Beta Pathway
    SOCS Pathway0.40


    Find genes that share SuperPaths with IRS4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for IRS4
        IGF1R Signaling
    ILK Signaling
    SOCS Pathway

    1 GeneGo (Thomson Reuters) Pathway for IRS4
        Transcription Receptor-mediated HIF regulation

    2 BioSystems Pathways for IRS4
        Adipogenesis
    Insulin Signaling

    1 Reactome Pathway for IRS4
        IRS-related events triggered by IGF1R


    4 Kegg Pathways  (Kegg details for IRS4):
        FoxO signaling pathway
    Insulin signaling pathway
    Adipocytokine signaling pathway
    Type II diabetes mellitus

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IRS4: 
              Insulin Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IRS4

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

    Selected Interacting proteins for IRS4 (O146541, 2, 3 ENSP000003612024) via UniProtKB, MINT, STRING, and/or I2D (see all 241)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRKP461081, 2, 3, ENSP000003005744EBI-356594,EBI-886 MINT-8029160 MINT-8027919 MINT-8033822 MINT-8034333 MINT-8033807 MINT-8027934 MINT-8034348 MINT-8029175 I2D: score=3 STRING: ENSP00000300574
    ERBB2P046262, 3, ENSP000002695714MINT-74556 I2D: score=1 STRING: ENSP00000269571
    MAP3K1Q132332, 3MINT-48301 I2D: score=2 
    TNFRSF1BP203332, 3MINT-49404 I2D: score=2 
    EGFRP005331, 2, 3, ENSP000002754934EBI-356594,EBI-297353 MINT-74554 MINT-74555 I2D: score=1 STRING: ENSP00000275493
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction TAS9261155
    GO:0009967positive regulation of signal transduction TAS9261155

    Find genes that share ontologies with IRS4           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)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IRS4

    4 Novoseek inferred chemical compound relationships for IRS4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphotyrosine 62.4 4 9261155 (2), 9553137 (1), 10403832 (1)
    tyrosine 54.2 10 9261155 (2), 12639902 (2), 9553137 (1), 15870689 (1) (see all 6)
    phosphatidylinositol 53.7 2 9553137 (1), 10077007 (1)
    glucose 8.8 4 11932207 (1), 14604813 (1)



    Find genes that share compounds with IRS4           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 )
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    REFSEQ mRNAs for IRS4 gene: 
    NM_003604.2  

    Unigene Cluster for IRS4:

    Insulin receptor substrate 4
    Hs.460872  [show with all ESTs]
    Unigene Representative Sequence: AF007567
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000372129(uc004eoc.2)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat IRS4

    Additional mRNA sequence: AF007567.1 

    1 DOTS entry:

    DT.404599 

    2 AceView cDNA sequences:

    AF007567 NM_003604 

    GeneLoc Exon Structure


    (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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    IRS4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACTTCACTA
    IRS4 Expression
    About this image


    IRS4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Cells Epiblast
             Epiblast Stem Cell line 5
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Head Mesenchyme (Muscoskeletal System)
             Frontonasal Process
     
     Skeletal Muscle (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
     
     Brain (Nervous System)
             Cerebellum
    IRS4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IRS4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460872

    UniProtKB/Swiss-Prot: IRS4_HUMAN, O14654
    Tissue specificity: Expressed in myoblasts. Expressed in liver and hepatocellular carcinoma

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IRS4: 
              Insulin Signaling Pathway in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for IRS4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IRS4
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    QuantiFast Probe-based Assays in human, mouse, rat IRS4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRS4

    (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 IRS4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Irs45 insulin receptor substrate 4   --   X (62.43 cM) 141710998 
    chicken
    (Gallus gallus)
    Aves IRS46
    insulin receptor substrate 4
    28(a)
    1 ↔ 1
    4(13836789-13855653)
    lizard
    (Anolis carolinensis)
    Reptilia IRS46
    insulin receptor substrate 4
    32(a)
    1 ↔ 1
    GL343202.1(4296021-4298968)
    zebrafish
    (Danio rerio)
    Actinopterygii IRS4 (1 of 2)6
    irs4a6
    insulin receptor substrate 4a
    27(a)
    25(a)
    many → 1
    many → 1
    7(52700940-52704181) ENSDARG00000052065
    21(41921451-41932976) ENSDARG00000086551
    fruit fly
    (Drosophila melanogaster)
    Insecta chico3 insulin receptor signaling pathway
    insulin-like more
    32(a)   31B1   --


    ENSEMBL Gene Tree for IRS4 (if available)
    TreeFam Gene Tree for IRS4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IRS4 gene
    IRS12  IRS22  

    Find genes that share paralogs with IRS4           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 IRS4 (see all 163)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0380444
    A colorectal cancer sample4--see VAR_0380442 G R mis40--------
    VAR_0380434
    A colorectal cancer sample4--see VAR_0380432 G E mis40--------
    VAR_0380424
    A colorectal cancer sample4--see VAR_0380422 A V mis40--------
    rs1378538941,2
    C,Funtested1107947553(-) CGCCGG/AGTGCC 2 /R syn11Minor allele frequency- A:0.00NA 4454
    rs18011641,2,,4
    C,F,Huntested1107948581(-) CAGATC/G/TATGAG 2 H Y mis114MN NA EA NS WA CSA 5069
    rs1378538961,2
    C,Funtested1107949901(-) CACCCA/TGCCCA 2 S C mis11Minor allele frequency- T:0.00NA 4524
    rs1842503721,2
    --107946909(+) CTTTCC/TTGGTA 1 -- ds50010--------
    rs1899498291,2
    --107947175(+) ATCCTC/TATGCT 1 -- ds50010--------
    rs285750401,2
    C,F--107947241(+) AATCAC/GTTCTG 1 -- ds50011Minor allele frequency- G:0.00CSA 1
    rs178472281,2
    C--107947344(-) GTGCTA/GTTCGA 1 -- ds50012Minor allele frequency- G:0.00NA 4

    HapMap Linkage Disequilibrium report for IRS4 (107975712 - 107979651 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for IRS4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv519041CNV Gain19592680

    Human Gene Mutation Database (HGMD): IRS4
    Locus Specific Mutation Databases (LSDB): IRS4

    Selected Site Specific Mutation Identification with PCR Assays for IRS4 (see all 8):
    Cosmic IdAA Change
    32917p.A20V
    78972p.E70*
    75034p.P971L
    32205p.G557R
    71197p.R731H
    SeqTarget long-range PCR primers for resequencing IRS4
    DNA2.0 Custom Variant and Variant Library Synthesis for IRS4

    (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.)
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    OMIM gene information: 300904    OMIM disorders: --

    3 diseases for IRS4:    
    About MalaCards
    cribriform carcinoma    boutonneuse fever    exostosis

    2 diseases from the University of Copenhagen DISEASES database for IRS4:
    Boutonneuse fever     Cribriform carcinoma

    Find genes that share disorders with IRS4           About GenesLikeMe

    2 Novoseek inferred disease relationships for IRS4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0 1 15870689 (1)
    tumors 0 4 19795387 (3), 15331607 (1)

    Genetic Association Database (GAD): IRS4
    Human Genome Epidemiology (HuGE) Navigator: IRS4 (8 documents)

    Export disorders for IRS4 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 IRS4 gene, integrated from 10 sources (see all 75):
    (articles sorted by number of sources associating them with IRS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of insulin receptor substrate 4 in human embryonic kidney 293 cells. (PubMed id 9553137)1, 2, 3, 9 Fantin V.R....Lavan B.E. (J. Biol. Chem. 1998)
    2. A novel 160-kDa phosphotyrosine protein in insulin-treated embryonic kidney cells is a new member of the insulin receptor substrate family. (PubMed id 9261155)1, 2, 3, 9 Lavan B.E....Lienhard G.E. (J. Biol. Chem. 1997)
    3. Insulin receptor substrate-4 is expressed in muscle tissue without acting as a substrate for the insulin receptor. (PubMed id 12639902)1, 2, 9 Schreyer S.... Eckel J. (Endocrinology 2003)
    4. Role of insulin receptor substrate-4 in IGF-I-stimulated HEPG2 proliferation. (PubMed id 17408801)1, 2, 9 Cuevas E.P.... Guijarro L.G. (J. Hepatol. 2007)
    5. Protein phosphatase 4 interacts with and down-regulates insulin receptor substrate 4 following tumor necrosis factor-alpha stimulation. (PubMed id 15331607)1, 2, 9 Mihindukulasuriya K.A.... Tan T.-H. (J. Biol. Chem. 2004)
    6. IRS-4 mediates protein kinase B signaling during insulin stimulation without promoting antiapoptosis. (PubMed id 10594015)1, 2, 9 Uchida T.... White M.F. (Mol. Cell. Biol. 2000)
    7. Interaction between Brk kinase and insulin receptor substrate-4. (PubMed id 15870689)1, 2, 9 Qiu H.... Miller W.T. (Oncogene 2005)
    8. The insulin-like growth factor I receptor-induced interaction of insulin receptor substrate-4 and Crk-II. (PubMed id 11316748)1, 2, 9 Karas M.... LeRoith D. (Endocrinology 2001)
    9. Tyrosine phosphoproteomics of fibroblast growth factor signaling: a role for insulin receptor substrate-4. (PubMed id 15316024)1, 2, 9 Hinsby A.M.... Mann M. (J. Biol. Chem. 2004)
    10. Interplay of the proto-oncogene proteins CrkL and CrkII in insulin- like growth factor-I receptor-mediated signal transduction. (PubMed id 9614078)1, 2, 9 Koval A.P.... LeRoith D. (J. Biol. Chem. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8471 HGNC: 6128 AceView: IRS4 Ensembl:ENSG00000133124 euGenes: HUgn8471
    ECgene: IRS4 Kegg: 8471 H-InvDB: IRS4

    (According to HUGE)
    About This Section

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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 IRS4 Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for IRS4 gene:
    Search GeneIP for patents involving IRS4

    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, LSBio, eBioscience, 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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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