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INSIG2 Gene

protein-coding   GIFtS: 58
GCID: GC02P118846

Insulin Induced Gene 2

  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)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Insulin Induced Gene 21 2
INSIG-22 3
INSIG2 Membrane Protein2
Insulin Induced Protein 22
Insulin-Induced Gene 2 Protein2

External Ids:    HGNC: 204521   Entrez Gene: 511412   Ensembl: ENSG000001256297   OMIM: 6086605   UniProtKB: Q9Y5U43   
ORGUL members:         

Export aliases for INSIG2 gene to outside databases

Previous GC identifers: GC02P116766 GC02P118752 GC02P118949 GC02P118941 GC02P118562 GC02P111173


(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 INSIG2 Gene:
The protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1
protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory
element binding proteins (SREBPs) by binding to SREBP cleavage-activating protein (SCAP), and thus prevent SCAP
from escorting SREBPs to the Golgi. (provided by RefSeq, Jul 2008)

GeneCards Summary for INSIG2 Gene:
INSIG2 (insulin induced gene 2) is a protein-coding gene. Diseases associated with INSIG2 include obesity, association with, and morbid obesity. GO annotations related to this gene include transcription factor binding. An important paralog of this gene is INSIG1.

UniProtKB/Swiss-Prot: INSI2_HUMAN, Q9Y5U4
Function: Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking
the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2
complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated
proteasomal degradation of HMGCR

Gene Wiki entry for INSIG2 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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the INSIG2 gene promoter:
         E2F-3a   E2F-4   RFX1   E2F-5   AML1a   E2F-2   AREB6   PPAR-alpha   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidINSIG2 promoter sequence
   Search Chromatin IP Primers for INSIG2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat INSIG2


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

Entrez Gene cytogenetic band: 2q14.2   Ensembl cytogenetic band:  2q14.2   HGNC cytogenetic band: 2q14.1

INSIG2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INSIG2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P118846:  view genomic region     (about GC identifiers)

Start:
118,846,028 bp from pter      End:
118,868,573 bp from pter
Size:
22,546 bases      Orientation:
plus 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, 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., 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: INSI2_HUMAN, Q9Y5U4 (See protein sequence)
Recommended Name: Insulin-induced gene 2 protein  
Size: 225 amino acids; 24778 Da
Subunit: Binds to the SCAP-SREBF2 complex only in the presence of sterols. Interacts with RNF139
Miscellaneous: Does not require nuclear SREBPs for its expression. When nuclear SREBP activity is low, is the only
form of INSIG present in the cell
Sequence caution: Sequence=AAD43048.1; Type=Frameshift; Positions=221;
1 PDB 3D structure from and Proteopedia for INSIG2:
4J82 (3D)    
Secondary accessions: A8K5W8 Q8TBI8

Explore the universe of human proteins at neXtProt for INSIG2: NX_Q9Y5U4

Explore proteomics data for INSIG2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys216
  • Modification sites at PhosphoSitePlus

  • See INSIG2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057217.2  
    ENSEMBL proteins: 
     ENSP00000400126   ENSP00000245787  
    Reactome Protein details: Q9Y5U4

    INSIG2 Human Recombinant Protein Products:

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    GenScript Custom Purified and Recombinant Proteins Services for INSIG2
    Novus Biologicals INSIG2 Protein
    Novus Biologicals INSIG2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for INSIG2

    INSIG2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Search ThermoFisher Antibodies for INSIG2
    LSBio Antibodies in human, mouse, rat for INSIG2

    INSIG2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for INSIG2
    Cloud-Clone Corp. CLIAs for INSIG2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR009904 INSIG
     IPR025929 INSIG_fam

    Graphical View of Domain Structure for InterPro Entry Q9Y5U4

    ProtoNet protein and cluster: Q9Y5U4

    UniProtKB/Swiss-Prot: INSI2_HUMAN, Q9Y5U4
    Similarity: Belongs to the INSIG family


    INSIG2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: INSI2_HUMAN, Q9Y5U4
    Function: Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking
    the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2
    complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated
    proteasomal degradation of HMGCR

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12242332
    GO:0008134transcription factor binding IEA--
         
    INSIG2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Insig2):
     homeostasis/metabolism  liver/biliary system  mortality/aging 

    INSIG2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Insig2tm1Mbjg for INSIG2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for INSIG2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for INSIG2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for INSIG2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for INSIG2

    miRNA
    Products:
        
    miRTarBase miRNAs that target INSIG2:
    hsa-mir-373-3p (MIRT002529), hsa-mir-375 (MIRT019869), hsa-mir-335-5p (MIRT017795), hsa-mir-142-3p (MIRT021575)

    Block miRNA regulation of human, mouse, rat INSIG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSIG2 (see all 39):
    hsa-miR-520f hsa-miR-875-5p hsa-miR-30d hsa-miR-374c hsa-miR-30a hsa-miR-124 hsa-miR-29a* hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidINSIG2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for INSIG2
    Predesigned siRNA for gene silencing in human, mouse, rat INSIG2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for INSIG2

    Clone
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    OriGene clones in human, mouse for INSIG2 (see all 7)
    OriGene ORF clones in mouse, rat for INSIG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: INSIG2 (NM_016133)
    Sino Biological Human cDNA Clone for INSIG2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSIG2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSIG2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for INSIG2
    Browse ESI BIO Cell Lines and PureStem Progenitors for INSIG2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSIG2


    (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
    INSI2_HUMAN, Q9Y5U4: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    golgi apparatus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0032937SREBP-SCAP-Insig complex IDA12242332

    INSIG2 for ontologies           About GeneDecksing


    (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 INSIG2 About    
    See pathways by source

    SuperPathContained pathways About
    1Regulation of Cholesterol Biosynthesis by SREBP (SREBF)
    Regulation of Cholesterol Biosynthesis by SREBP (SREBF)0.75
    SREBP signalling0.31
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for INSIG2
        SREBP signalling


    1 Reactome Pathway for INSIG2
        Regulation of cholesterol biosynthesis by SREBP (SREBF)



    INSIG2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including INSIG2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for INSIG2

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

    Selected Interacting proteins for INSIG2 (Q9Y5U42, 3 ENSP000002457874) via UniProtKB, MINT, STRING, and/or I2D (see all 115)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006641triglyceride metabolic process IEA--
    GO:0006695cholesterol biosynthetic process IEA--
    GO:0006991response to sterol depletion ----
    GO:0008203cholesterol metabolic process ----
    GO:0010894negative regulation of steroid biosynthetic process IEA--

    INSIG2 for ontologies           About GeneDecksing



    (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 INSIG2 (INSI2)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for INSIG2 gene: 
    NM_016133.2  

    Unigene Cluster for INSIG2:

    Insulin induced gene 2
    Hs.7089  [show with all ESTs]
    Unigene Representative Sequence: BX647805
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000411929 ENST00000471186 ENST00000245787(uc002tlk.3 uc010yye.2 uc002tll.3)
    ENST00000485520 ENST00000467223 ENST00000488995 ENST00000479999
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat INSIG2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate INSIG2 (see all 39):
    hsa-miR-520f hsa-miR-875-5p hsa-miR-30d hsa-miR-374c hsa-miR-30a hsa-miR-124 hsa-miR-29a* hsa-miR-506
    SwitchGear 3'UTR luciferase reporter plasmidINSIG2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for INSIG2
    Predesigned siRNA for gene silencing in human, mouse, rat INSIG2
    Clone
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    OriGene clones in human, mouse for INSIG2 (see all 7)
    OriGene ORF clones in mouse, rat for INSIG2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: INSIG2 (NM_016133)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for INSIG2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat INSIG2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for INSIG2
    OriGene qSTAR qPCR primer pairs in human, mouse for INSIG2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSIG2
      QuantiTect SYBR Green Assays in human, mouse, rat INSIG2
      QuantiFast Probe-based Assays in human, mouse, rat INSIG2

    Additional mRNA sequence: 

    AF125392.1 AF527632.1 AK021692.1 AK291433.1 AK298599.1 AL080184.1 BC022475.1 BX647805.1 

    8 DOTS entries:

    DT.75113185  DT.448715  DT.95272239  DT.100651551  DT.95272243  DT.100837251  DT.99998325  DT.91745384 

    Selected AceView cDNA sequences (see all 151):

    AI580316 NM_016133 AI027128 AI248096 BQ446216 N93884 D79901 CK904498 
    BX360862 CR595929 CB156956 AA971573 AA701862 BU627704 CB161635 BM699655 
    AI478220 BM721400 CA437082 R58868 BX954158 CA443247 BX281443 BQ575202 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for INSIG2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8
    SP1:                    -           -                                 
    SP2:                                -                                 
    SP3:                                -           -     -     -         
    SP4:                                -                                 
    SP5:                                                                  


    ECgene alternative splicing isoforms for INSIG2

    (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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    INSIG2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTCCTAGA
    INSIG2 Expression
    About this image


    INSIG2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Cerebral Cortex
             Septum   
    INSIG2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    INSIG2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.7089
        Pathway & Disease-focused RT2 Profiler PCR Arrays including INSIG2: 
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Unfolded Protein Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for INSIG2
    OriGene qSTAR qPCR primer pairs in human, mouse for INSIG2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat INSIG2
    QuantiTect SYBR Green Assays in human, mouse, rat INSIG2
    QuantiFast Probe-based Assays in human, mouse, rat INSIG2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INSIG2

    (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 chordates.

    Orthologs for INSIG2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Insig21 , 5 insulin induced gene 21, 5 87.41(n)1
    96.89(a)1
      1 (52.91 cM)5
    729991  NM_001271531.11  NP_001258460.11 
     1213043535 
    chicken
    (Gallus gallus)
    Aves INSIG26
    insulin induced gene 2
    91(a)
    1 ↔ 1
    7(28336053-28343536)
    lizard
    (Anolis carolinensis)
    Reptilia INSIG26
    insulin induced gene 2
    84(a)
    1 ↔ 1
    1(82301580-82333102)
    zebrafish
    (Danio rerio)
    Actinopterygii insig21 insulin induced gene 2 67.58(n)
    80.91(a)
      399645  NM_212804.1  NP_997969.1 


    ENSEMBL Gene Tree for INSIG2 (if available)
    TreeFam Gene Tree for INSIG2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for INSIG2 gene
    INSIG12  
    1 SIMAP similar gene for INSIG2 using alignment to 2 protein entries:     INSI2_HUMAN (see all proteins):
    INSIG1

    INSIG2 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), 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 INSIG2 (see all 502)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1476929301,2
    --118844058(+) CTCAAC/TGCCCA 1 -- us2k10--------
    rs1833439201,2
    --118844130(+) TTTGTA/TTTTCT 1 -- us2k10--------
    rs111234691,2
    C,F,A,H--118844183(+) CTGCAT/CTAGAT 1 -- us2k122Minor allele frequency- C:0.21NA NS EA WA 2484
    rs1875109311,2
    --118844190(+) AGATAC/TAGGAA 1 -- us2k10--------
    rs1138302131,2
    F--118844199(+) AACCTC/TGGAAC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1161561851,2
    C,F--118844209(+) CTGGTG/ACTATA 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs769900691,2
    F--118844268(+) TAAACG/AAAAAT 1 -- us2k11Minor allele frequency- A:0.02EA 120
    rs1467334801,2
    C--118844351(+) CGGTTA/GGAGTA 1 -- us2k10--------
    rs170477391,2
    C,F,H--118844402(+) AATACA/GTGATG 1 -- us2k18Minor allele frequency- G:0.03NA NS EA WA 670
    rs101853161,2
    C,F,A,H--118844478(+) CCATTC/GTGTAT 1 -- us2k123Minor allele frequency- G:0.23NA EA NS CSA WA 2840

    HapMap Linkage Disequilibrium report for INSIG2 (118846028 - 118868573 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for INSIG2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv820793CNV Deletion20802225
    esv1244468CNV Deletion17803354
    esv2720611CNV Deletion23290073
    esv1042101CNV Deletion17803354
    esv1675960CNV Deletion17803354
    esv2596819CNV Deletion19546169
    esv2269282CNV Deletion18987734
    esv1527073CNV Deletion17803354
    esv21565CNV Loss19812545

    Human Gene Mutation Database (HGMD): INSIG2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing INSIG2
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608660    OMIM disorders: --

    Selected diseases for INSIG2 (see all 24):    
    About MalaCards
    obesity, association with    morbid obesity    sleep apnea    rabies
    obesity    esophageal cancer    pulmonary function    coronary heart disease
    esophagitis    esophageal squamous cell carcinoma    polycystic ovary syndrome    asthma
    myocardial infarction    atherosclerosis    hypoxia    insulin resistance
    squamous cell carcinoma    schizophrenia    pancreatic cancer    type 1 diabetes


    INSIG2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): INSIG2
    Human Genome Epidemiology (HuGE) Navigator: INSIG2 (61 documents)

    Export disorders for INSIG2 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 INSIG2 gene, integrated from 10 sources (see all 90):
    (articles sorted by number of sources associating them with INSIG2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Insig-2, a second endoplasmic reticulum protein that binds SCAP and blocks export of sterol regulatory element-binding proteins. (PubMed id 12242332)1, 2, 3 Yabe D.... Goldstein J.L. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Insulin-induced gene 2 involvement in human adipocyte metabolism and body weight regulation. (PubMed id 18319320)1, 4, 9 Krapivner S....van't Hooft F.M. (J. Clin. Endocrinol. Metab. 2008)
    3. The INSIG1 gene, not the INSIG2 gene, associated with coronary heart disease: tagSNPs and haplotype-based association study. The Beijing Atherosclerosis Study. (PubMed id 18989534)1, 4, 9 Liu X....Gu D. (Thromb. Haemost. 2008)
    4. Association between the insulin-induced gene 2 (INSIG2) and weight gain in a German sample of antipsychotic-treated schizophrenic patients: perturbation of SREBP-controlled lipogenesis in drug-related metabolic adverse effects? (PubMed id 18195716)1, 4, 9 Le Hellard S....Steen V.M. (Mol. Psychiatry 2009)
    5. Association study of polymorphisms in insulin induced gene 2 (INSIG2) with antipsychotic-induced weight gain in European and African-American schizophrenia patients. (PubMed id 20373477)1, 4, 9 Tiwari A.K....Kennedy J.L. (Hum Psychopharmacol 2010)
    6. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PubMed id 19740467)1, 4, 9 Liu X....Gu D. (Atherosclerosis 2010)
    7. No association between INSIG2 Gene rs7566605 polymorphism and being overweight in Japanese population. (PubMed id 18223638)1, 4, 9 Tabara Y....Kohara K. (Obesity (Silver Spring) 2008)
    8. Association of morbid obesity with FTO and INSIG2 allelic variants. (PubMed id 18347269)1, 4, 9 Chu X....Gerhard G.S. (Arch Surg 2008)
    9. An INSIG2 polymorphism affects glucose homeostasis in Sardinian obese children and adolescents. (PubMed id 20645959)1, 4 Zavattari P....Loche S. (Ann. Hum. Genet. 2010)
    10. Obesity and diabetes genetic variants associated with gestational weight gain. (PubMed id 20816152)1, 4 Stuebe A.M....Siega-Riz A.M. (Am. J. Obstet. Gynecol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 51141 HGNC: 20452 AceView: INSIG2 Ensembl:ENSG00000125629 euGenes: HUgn51141
    ECgene: INSIG2 H-InvDB: INSIG2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for INSIG2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for INSIG2 gene:
    Search GeneIP for patents involving INSIG2

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



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