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

INS Gene

protein-coding   GIFtS: 63
GCID: GC11M002181

Insulin

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Aliases
insulin1 2     IRDN2
IDDM22 5     preproinsulin2
MODY102 5     proinsulin2
ILPR2     

External Ids:    HGNC: 60811   Entrez Gene: 36302   Ensembl: ENSG000002546477   OMIM: 1767305   UniProtKB: P013083   

Export aliases for INS gene to outside databases

Previous GC identifers: GC11U990070 GC11M002268 GC11M002140 GC11M002145 GC11M002137 GC11M002106 GC11M002125 GC11M002153 GC11M001971


(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 INS Gene:
After removal of the precursor signal peptide, proinsulin is post-translationally cleaved into three peptides: the
B chain and A chain peptides, which are covalently linked via two disulfide bonds to form insulin, and C-peptide.
Binding of insulin to the insulin receptor (INSR) stimulates glucose uptake. A multitude of mutant alleles with
phenotypic effects have been identified. There is a read-through gene, INS-IGF2, which overlaps with this gene at
the 5' region and with the IGF2 gene at the 3' region. Alternative splicing results in multiple transcript
variants. (provided by RefSeq, Jun 2010)

GeneCards Summary for INS Gene: 
INS (insulin) is a protein-coding gene. Diseases associated with INS include type 1 diabetes, and diabetic ketoacidosis, and among its related super-pathways are Translation Insulin regulation of translation and Regulation of beta-cell development. GO annotations related to this gene include hormone activity and insulin receptor binding. An important paralog of this gene is INS-IGF2.

UniProtKB/Swiss-Prot: INS_HUMAN, P01308
Function: Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino
acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver

Gene Wiki entry for INS (Insulin) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the INS gene promoter:
         GR   CREB   AP-1   deltaCREB   GR-alpha   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INS


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

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.5   HGNC cytogenetic band: 11p15.5

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M002181:  view genomic region     (about GC identifiers)

Start:
2,181,009 bp from pter      End:
2,182,571 bp from pter
Size:
1,563 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: INS_HUMAN, P01308 (See protein sequence)
Recommended Name: Insulin precursor  
Size: 110 amino acids; 11981 Da
Subunit: Heterodimer of a B chain and an A chain linked by two disulfide bonds
Subcellular location: Secreted
Sequence caution: Sequence=AAA59179.1; Type=Erroneous gene model prediction;
6/187 PDB 3D structures from and Proteopedia for INS (see all 187):
1A7F (3D)        1AI0 (3D)        1AIY (3D)        1B9E (3D)        1BEN (3D)        1EFE (3D)    
Secondary accessions: Q5EEX2
Alternative splicing: 2 isoforms:  P01308-1   F8WCM5-1   (Based on a readthrough transcript which may produce an INS-IGF2 fusion protein)

Explore the universe of human proteins at neXtProt for INS: NX_P01308

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P01308

  • INS Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins (3 alternative transcripts): 
    NP_000198.1  NP_001172026.1  NP_001172027.1  

    ENSEMBL proteins: 
     ENSP00000380432   ENSP00000250971   ENSP00000370731   ENSP00000408400   ENSP00000424008  
    Reactome Protein details: P01308
    Human Recombinant Protein Products for INS: 
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    Novus Biologicals INS Lysate
    Sino Biological Recombinant Protein for INS
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    ProSpec Recombinant Protein for INS
    Cloud-Clone Corp. Proteins for INS 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA9667398
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0005796Golgi lumen TAS--
    GO:0031904endosome lumen TAS--

    INS for ontologies           About GeneDecksing



    INS Antibody Products: 
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    Cloud-Clone Corp. ELISAs for INS 
    Cloud-Clone Corp. CLIAs for INS


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR016179 Insulin-like
     IPR022352 Insulin_family
     IPR022353 Insulin_CS
     IPR004825 Insulin

    Graphical View of Domain Structure for InterPro Entry P01308

    ProtoNet protein and cluster: P01308

    1 Blocks protein domain: IPB004825 Insulin/IGF/relaxin

    UniProtKB/Swiss-Prot: INS_HUMAN, P01308
    Similarity: Belongs to the insulin family


    INS for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INS_HUMAN, P01308
    Function: Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino
    acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver

         Genatlas biochemistry entry for INS:
    insulin

         Summary:
    During embryonic development, INS as signaling molecule
    affects the following cells: Subcutaneous White Preadipocytes in Body Subcutaneous White Adipose

    INS as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells: Erythroid-like cells from Blood, Oligodendrocyte progenitor-like cells from Brain (see all).

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IPI--
    GO:0005158insulin receptor binding IPI8452530
    GO:0005159insulin-like growth factor receptor binding IPI8452530
    GO:0005179hormone activity NAS14986111
    GO:0005515protein binding IPI9388210
         
    INS for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for INS:
     Increased cell death in HCC-19  Increased cell death in breast 

         15/22 MGI mutant phenotypes (inferred from 13 alleles(MGI details for Ins2) (see all 22):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  liver/biliary system  mortality/aging  muscle 

    INS for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for INS: Ins2tm2Jja Ins2tm1.1Mnt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for INS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for INS

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

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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 3): INS (NM_000207)
    Sino Biological Human cDNA Clone for INS
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INS
    Sirion Biotech Customized lentivirus for stable overexpression of INS 
                         Customized lentivirus expression plasmids for stable overexpression of INS 

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    In Situ Assay
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for INS About   (see all 55)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Translation Insulin regulation of translation
    Translation Insulin regulation of translation0.59
    Translation Regulation activity of EIF20.47
    Regulation of lipid metabolism Insulin signaling:generic cascades0.59
    mTOR signaling pathway0.34
    Transcription Receptor-mediated HIF regulation0.51
    Insulin signaling pathway0.31
    2Regulation of beta-cell development
    Regulation of beta-cell development0.56
    Regulation of gene expression in beta cells0.56
    Maturity onset diabetes of the young0.56
    3Type II diabetes mellitus
    Type II diabetes mellitus0.38
    Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics0.38
    4IRS-related events
    Insulin receptor signalling cascade0.94
    Signaling by Insulin receptor0.79
    IRS-related events0.94
    5IRS activation
    IRS activation0.38
    SHC activation0.33
    Signal attenuation0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/8 EMD Millipore Pathways for INS (see all 8)
        Transcription Transcription factor Tubby signaling pathways
    Translation Insulin regulation of translation
    Translation Regulation activity of EIF2
    Selected targets of CREB1
    Selected targets of GCR-alpha

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

    5/9 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for INS (see all 9)
        eIF2 Pathway
    mTOR Pathway
    SOCS Pathway
    AMPK Enzyme Complex Pathway
    p70S6K Signaling

    1 Cell Signaling Technology (CST) Pathway for INS
        Glucose / Energy Metabolism

    5 GeneGo (Thomson Reuters) Pathways for INS
        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

    5/15 BioSystems Pathways for INS (see all 15)
        Senescence and Autophagy
    Adipogenesis
    SREBP signalling
    AGE/RAGE pathway
    Cardiac Progenitor Differentiation


    5/20        Reactome Pathways for INS (see all 20)
        Insulin receptor recycling
    Developmental Biology
    SHC-related events
    Metabolism
    Regulation of beta-cell development

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

    5/17         Kegg Pathways  (Kegg details for INS) (see all 17):
        HIF-1 signaling pathway
    Oocyte meiosis
    Regulation of autophagy
    mTOR signaling pathway
    PI3K-Akt signaling pathway


    INS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for INS

    5/29 Interacting proteins for INS (P013082, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 29)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    INSP013082MINT-25025 MINT-8400034 MINT-8400062 MINT-8413743 MINT-8400091 MINT-8400115 MINT-8413680 MINT-8400105 MINT-8400130 MINT-8400074 MINT-8400048 MINT-25072
    MAPK6Q166592, 3MINT-8261296 I2D: score=2 
    ENSG00000204276P019063I2D: score=1 
    ENSG00000206301P019063I2D: score=1 
    ENSG00000223793P019063I2D: score=1 
    About this table

    Gene Ontology (GO): 5/61 biological process terms (GO ID links to tree view) (see all 61):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000165MAPK cascade IDA11278339
    GO:0002674negative regulation of acute inflammatory response IDA11443198
    GO:0006006glucose metabolic process IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006355regulation of transcription, DNA-dependent NAS12881524

    INS for ontologies           About GeneDecksing



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

    INS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for INS

    UniProtKB/Swiss-Prot: INS_HUMAN, P01308
    Pharmaceutical: Available under the names Humulin or Humalog (Eli Lilly) and Novolin (Novo Nordisk). Used in the
    treatment of diabetes. Humalog is an insulin analog with 52-Lys-Pro-53 instead of 52-Pro-Lys-53

    2 DrugBank Compounds for INS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    M-Cresol-- 108-39-4target--17139284 17016423 10592235
    MYRISTIC ACID-- --target--10592235

    10/128 Novoseek inferred chemical compound relationships for INS gene (see all 128)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 98.1 72789 14694215 (12), 8243832 (10), 17224332 (10), 8156098 (10) (see all 99)
    c-peptide 96 6299 15375153 (9), 15640407 (8), 16510765 (8), 12831633 (7) (see all 99)
    metformin 93.1 3189 16294070 (9), 10928231 (9), 9101010 (8), 18463376 (8) (see all 99)
    cholesterol 90.1 6187 14636288 (8), 14657199 (8), 8243874 (8), 10673252 (7) (see all 99)
    sulfonylurea 88.7 1046 1828656 (7), 8591697 (6), 2209344 (5), 9454524 (5) (see all 99)
    lipid 88.3 5811 15759111 (7), 19897010 (7), 18460913 (6), 15985488 (6) (see all 99)
    incretin 87.5 377 16478775 (4), 11522713 (3), 19375579 (3), 12788877 (3) (see all 99)
    pioglitazone 86.5 1015 15531002 (9), 19889003 (8), 17587394 (7), 20407626 (7) (see all 99)
    rosiglitazone 86 1042 18074413 (7), 16183427 (7), 15504990 (6), 12466369 (5) (see all 99)
    fatty acid 83.6 2038 16788709 (6), 1843205 (6), 19782765 (6), 15767857 (5) (see all 99)

    Search CenterWatch for drugs/clinical trials and news about INS

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for INS gene (3 alternative transcripts): 
    NM_000207.2  NM_001185097.1  NM_001185098.1  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397262(uc021qcd.1) ENST00000250971(uc009ydg.1 uc001lvn.2)
    ENST00000381330(uc001lvo.1) ENST00000421783 ENST00000512523
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    24/90 AceView cDNA sequences (see all 90):

    BM509200 BQ128044 AW583768 BM272609 BI711340 BM313639 BU788191 BM314026 
    BM313656 BU783202 BM313837 BM310184 BQ267325 BI468582 BQ477396 BM313817 
    BM310280 BM565484 BM504254 BM272667 BQ270525 BQ267669 BI710887 BM504106 

    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™, 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

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


    INS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Pancreas (Endocrine System)    fully expand to see all 19 entries
             Immature Beta Progenitor Cells Ventral Pancreatic Bud
             Pancreatic progenitor-like cells ( Derivation of beta cells and pancreatic-like islets...
             Pancreatic Islet   
     
     Intestine (Gastrointestinal Tract)
             neonatal small intestine   

    Genevestigator expression for INS
        SABiosciences Expression via Pathway-Focused PCR Arrays including INS (see all 17): 
              Insulin Signaling Pathway in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Autophagy in human mouse rat
              Alzheimer's Disease in human mouse rat
              Cell Lineage Identification in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INS

    (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 chordates.

    Orthologs for INS gene from 5/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ins21 , 5 insulin II1, 5 82.42(n)1
    81.82(a)1
      7 (88.00 cM)5
    163341  NM_001185084.11  NP_001172013.11 
     1426786565 
    chicken
    (Gallus gallus)
    Aves INS1 insulin 65.11(n)
    65.42(a)
      396145  NM_205222.2  NP_990553.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    56(a)
    1 → many
    1(69965277-69969077)
    African clawed frog
    (Xenopus laevis)
    Amphibia M24442.12   -- 79.94(n)    M24442.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ins2 preproinsulin 74.94(n)   30262  AF036326.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for INS gene
    INS-IGF22  
    3 SIMAP similar genes for INS using alignment to 5 protein entries:     INS_HUMAN (see all proteins):
    INS-IGF2    IGF-I    IGF1

    INS for paralogs           About GeneDecksing



    (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) 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

    10/27 SNPs in INS are shown (see all 27)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637274
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0637272 L P mis40--------
    VAR_0637324
    Diabetes mellitus, insulin-dependent, 2 (IDDM2)4--see VAR_0637322 R C mis40--------
    VAR_0637294
    Maturity-onset diabetes of the young 10 (MODY10)4--see VAR_0637292 R Q mis40--------
    VAR_0039754
    Hyperproinsulinemia, familial (FHPRI)4--see VAR_0039752 R L mis40--------
    VAR_0637354
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0637352 R C mis40--------
    VAR_0637214
    Maturity-onset diabetes of the young 10 (MODY10)4--see VAR_0637212 R C mis40--------
    VAR_0039714
    Hyperproinsulinemia, familial (FHPRI)4--see VAR_0039712 H D mis40--------
    VAR_0637304
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0637302 G V mis40--------
    VAR_0637314
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0637312 F C mis40--------
    VAR_0637394
    Diabetes mellitus, permanent neonatal (PNDM)4--see VAR_0637392 S C mis40--------

    HapMap Linkage Disequilibrium report for INS (2181009 - 2182571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for INS:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv994n71CNV Loss21882294
    nsv896796CNV Loss21882294
    nsv896776CNV Loss21882294
    dgv995n71CNV Loss21882294
    nsv896798CNV Loss21882294
    nsv896797CNV Loss21882294
    dgv992n71CNV Loss21882294
    dgv997n71CNV Loss21882294
    nsv896793CNV Gain21882294
    nsv467645CNV Gain19166990


    Human Gene Mutation Database (HGMD): INS
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing INS
    DNA2.0 Custom Variant and Variant Library Synthesis for INS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 176730   
    OMIM disorders: 613370  606176  125852  
    UniProtKB/Swiss-Prot: INS_HUMAN, P01308
  • Hyperproinsulinemia, familial (FHPRI) [MIM:176730]: An autosomal dominant condition characterized by
    elevated levels of serum proinsulin-like material. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852]: A multifactorial disorder of glucose
    homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical
    features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and
    secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and
    blood vessels. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]: A rare form of diabetes distinct from
    childhood-onset autoimmune diabetes mellitus type 1. It is characterized by insulin-requiring hyperglycemia that
    is diagnosed within the first months of life. Permanent neonatal diabetes requires lifelong therapy. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]: A form of diabetes that is characterized
    by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of
    age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/413 diseases for INS (see all 413):    About MalaCards
    type 1 diabetes    diabetic ketoacidosis    insulin autoimmune syndrome    carbohydrate metabolic disorder
    silent myocardial infarction    neurogenic hypertension    fibrocalculous pancreatopathy    diabetes mellitus, insulin-dependent, 2
    hyperproinsulinemia, familial    maturity-onset diabetes of the young, type 10    ins-related permanent neonatal diabetes mellitus    maturity-onset diabetes of the young type10
    rabson-mendenhall syndrome    hypoglycemic coma    hair-an syndrome    autoimmune polyglandular syndrome type 2
    immunodysregulation, polyendocrinopathy and enteropathy x-linked    ipex syndrome    short syndrome    nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

    20/59 diseases from the University of Copenhagen DISEASES database for INS (see all 59):
    Diabetes mellitus     Hypoglycemia     Hyperglycemia     Hyperinsulinism
    Hypertension     Polycystic ovary syndrome     Heart disease     Atherosclerosis
    Hyperandrogenism     Pancreatic cancer     Acanthosis nigricans     Diabetic retinopathy
    Adenoma     Hyperinsulinemic hypoglycemia     Kidney failure     Fatty liver disease
    Neuropathy     Autonomic neuropathy     Lipodystrophy     Hypoglycemic coma

    INS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 Novoseek inferred disease relationships for INS gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    insulin resistance 99 64976 15209435 (13), 16489319 (13), 17588192 (12), 20419831 (12) (see all 99)
    insulin sensitivity 98 30603 20093961 (11), 8174845 (11), 9797852 (11), 11079822 (10) (see all 99)
    diabetes mellitus insulin-dependent 97.1 9678 2004172 (7), 9551692 (7), 1756017 (7), 7970366 (7) (see all 99)
    niddm 96.3 8629 10996359 (9), 9538982 (9), 9715376 (9), 10421979 (8) (see all 99)
    hyperinsulinemia 96.1 4397 16489319 (10), 7700881 (7), 8576790 (6), 2202884 (6) (see all 99)
    obesity 95.2 9985 14694215 (8), 18457598 (7), 9869004 (7), 16353333 (7) (see all 99)
    hypoglycemia 95.2 5243 10975210 (8), 9162611 (8), 18484562 (8), 11544612 (8) (see all 99)
    hyperglycemia 94.8 4252 1452531 (6), 2272633 (5), 18596634 (5), 19487929 (5) (see all 99)
    diabetes mellitus 93.7 3996 1357169 (6), 9509457 (5), 8913409 (5), 1966582 (4) (see all 99)
    impaired glucose tolerance 93.7 1378 8462385 (6), 8609839 (5), 2075783 (4), 1838062 (4) (see all 99)

    Genatlas disease: INS
    diabetes,with hyperproinsulinemia,putative susceptibility factor for obesity in association with IgF2 in British
    population

    GeneTests: INS
    GeneReviews: INS
    Genetic Association Database (GAD): INS
    Human Genome Epidemiology (HuGE) Navigator: INS (430 documents)

    Export disorders for INS 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)
    About This Section

    PubMed articles for INS gene, integrated from 9 sources (see all 15275):
    (articles sorted by number of sources associating them with INS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. (PubMed id 18162506)1, 2, 4, 9 Edghill E.L....Ellard S. (2008)
    2. Susceptibility to insulin dependent diabetes mellitus maps to a 4.1 kb segment of DNA spanning the insulin gene and associated VNTR. (PubMed id 8358440)1, 2, 4 Lucassen A.M.... Bell J.I. (1993)
    3. A mutation in the B chain coding region is associated with impaired proinsulin conversion in a family with hyperproinsulinemia. (PubMed id 3470784)1, 2, 4 Chan S.J.... Steiner D.F. (1987)
    4. Sequence of the human insulin gene. (PubMed id 6243748)1, 2, 3 Bell G.I....Goodman H.M. (1980)
    5. Insulinomas and expression of an insulin splice variant. (PubMed id 15070567)1, 2, 9 Minn A.H.... Shalev A. (2004)
    6. Genotypic and phenotypic differences between Arabian and Scandinavian women with gestational diabetes mellitus. (PubMed id 15095040)1, 4, 9 Shaat N....Groop L. (2004)
    7. Insulin resistance-related genes and advanced left-sided colorectal adenoma. (PubMed id 17416760)1, 4, 9 Gunter M.J....Peters U. (2007)
    8. Prostate cancer risk and IRS1, IRS2, IGF1, and INS polymorphisms: strong association of IRS1 G972R variant and cancer risk. (PubMed id 15678496)1, 4, 9 Neuhausen S.L....Brothman A.R. (2005)
    9. No association of INS-VNTR genotype and IAA autoantibodies. (PubMed id 15699505)1, 4, 9 Perez de Nanclares G....Castano L. (2004)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3630 HGNC: 6081 AceView: INS Ensembl:ENSG00000254647 euGenes: HUgn3630
    ECgene: INS Kegg: 3630 H-InvDB: INS

    (According to HUGE)
    About This Section
      --

    (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 INS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/INS
    Insulin at Eli Lillyhttp://www.lillyDiabetes.com/Products/PatientInfo.cfm
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt009.shtml
    Wikipedia http://en.wikipedia.org/wiki/Insulin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for INS gene:
    Search GeneIP for patents involving INS

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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