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Aliases for INSIG2 Gene

Aliases for INSIG2 Gene

  • Insulin Induced Gene 2 2 3 5
  • INSIG-2 3 4
  • Insulin Induced Protein 2 3
  • INSIG2 Membrane Protein 3

External Ids for INSIG2 Gene

Previous GeneCards Identifiers for INSIG2 Gene

  • GC02P116766
  • GC02P118752
  • GC02P118949
  • GC02P118941
  • GC02P118562
  • GC02P111173
  • GC02P118846

Summaries for INSIG2 Gene

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 morbid obesity. Among its related pathways are Metabolism and Regulation of cholesterol biosynthesis by SREBP (SREBF). GO annotations related to this gene include transcription factor binding. An important paralog of this gene is INSIG1.

UniProtKB/Swiss-Prot for INSIG2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INSIG2 Gene

Genomics for INSIG2 Gene

Regulatory Elements for INSIG2 Gene

Promoters for INSIG2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around INSIG2 on UCSC Golden Path with GeneCards custom track

Genomic Location for INSIG2 Gene

Chromosome:
2
Start:
118,088,452 bp from pter
End:
118,110,997 bp from pter
Size:
22,546 bases
Orientation:
Plus strand

Genomic View for INSIG2 Gene

Genes around INSIG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INSIG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INSIG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INSIG2 Gene

Proteins for INSIG2 Gene

  • Protein details for INSIG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5U4-INSI2_HUMAN
    Recommended name:
    Insulin-induced gene 2 protein
    Protein Accession:
    Q9Y5U4
    Secondary Accessions:
    • A8K5W8
    • Q8TBI8

    Protein attributes for INSIG2 Gene

    Size:
    225 amino acids
    Molecular mass:
    24778 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAD43048.1; Type=Frameshift; Positions=221; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INSIG2 Gene

neXtProt entry for INSIG2 Gene

Proteomics data for INSIG2 Gene at MOPED

Post-translational modifications for INSIG2 Gene

  • Ubiquitination at Lys 216
  • Modification sites at PhosphoSitePlus

Other Protein References for INSIG2 Gene

Antibody Products

No data available for DME Specific Peptides for INSIG2 Gene

Domains & Families for INSIG2 Gene

Protein Domains for INSIG2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for INSIG2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5U4

UniProtKB/Swiss-Prot:

INSI2_HUMAN :
  • Belongs to the INSIG family.
Family:
  • Belongs to the INSIG family.
genes like me logo Genes that share domains with INSIG2: view

No data available for Gene Families for INSIG2 Gene

Function for INSIG2 Gene

Molecular function for INSIG2 Gene

UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with INSIG2: view

Animal Models for INSIG2 Gene

MGI Knock Outs for INSIG2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INSIG2 Gene

Localization for INSIG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for INSIG2 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for INSIG2 Gene COMPARTMENTS Subcellular localization image for INSIG2 gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
cytosol 1
extracellular 1
golgi apparatus 1
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for INSIG2 Gene

Pathways & Interactions for INSIG2 Gene

genes like me logo Genes that share pathways with INSIG2: view

Pathways by source for INSIG2 Gene

Gene Ontology (GO) - Biological Process for INSIG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006641 triglyceride metabolic process IEA --
GO:0006695 cholesterol biosynthetic process IEA --
GO:0006991 response to sterol depletion IEA --
GO:0016126 sterol biosynthetic process IEA --
GO:0032933 SREBP signaling pathway IDA 12242332
genes like me logo Genes that share ontologies with INSIG2: view

No data available for SIGNOR curated interactions for INSIG2 Gene

Drugs & Compounds for INSIG2 Gene

No Compound Related Data Available

Transcripts for INSIG2 Gene

Unigene Clusters for INSIG2 Gene

Insulin induced gene 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for INSIG2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8
SP1: - -
SP2: -
SP3: - - - -
SP4: -
SP5:
SP6:

Relevant External Links for INSIG2 Gene

GeneLoc Exon Structure for
INSIG2
ECgene alternative splicing isoforms for
INSIG2

Expression for INSIG2 Gene

mRNA expression in normal human tissues for INSIG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INSIG2 Gene

This gene is overexpressed in Heart (64.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for INSIG2 Gene



SOURCE GeneReport for Unigene cluster for INSIG2 Gene Hs.7089

genes like me logo Genes that share expression patterns with INSIG2: view

Protein tissue co-expression partners for INSIG2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for INSIG2 Gene

Orthologs for INSIG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for INSIG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INSIG2 36
  • 100 (a)
OneToOne
INSIG2 35
  • 99.7 (n)
  • 100 (a)
cow
(Bos Taurus)
Mammalia INSIG2 35
  • 96 (n)
  • 99.11 (a)
INSIG2 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia INSIG2 36
  • 97 (a)
OneToOne
INSIG2 35
  • 94.52 (n)
  • 97.78 (a)
mouse
(Mus musculus)
Mammalia Insig2 16
Insig2 35
  • 87.41 (n)
  • 96.89 (a)
Insig2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia INSIG2 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Insig2 35
  • 86.07 (n)
  • 96.44 (a)
chicken
(Gallus gallus)
Aves INSIG2 36
  • 91 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia INSIG2 36
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii insig2 35
  • 67.58 (n)
  • 80.91 (a)
insig2 36
  • 78 (a)
OneToOne
Species with no ortholog for INSIG2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for INSIG2 Gene

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

Paralogs for INSIG2 Gene

Paralogs for INSIG2 Gene

(1) SIMAP similar genes for INSIG2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with INSIG2: view

Variants for INSIG2 Gene

Sequence variations from dbSNP and Humsavar for INSIG2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs889904 -- 118,102,895(-) GATTC(A/G)TGCTA intron-variant
rs929912 -- 118,100,217(-) CTTCA(C/T)GGAAA intron-variant
rs1559509 -- 118,098,351(-) TTGCT(C/T)TACAG intron-variant
rs1486116 -- 118,109,387(-) TACAT(A/G)AGAAA utr-variant-3-prime
rs2042492 -- 118,097,348(-) CAGCA(C/T)ATGCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for INSIG2 Gene

Variant ID Type Subtype PubMed ID
esv2596819 CNV Deletion 19546169
esv21565 CNV Loss 19812545
nsv820793 CNV Deletion 20802225
esv2720611 CNV Deletion 23290073
esv2269282 CNV Deletion 18987734
esv1042101 CNV Deletion 17803354
esv1527073 CNV Deletion 17803354
esv1244468 CNV Deletion 17803354
esv1675960 CNV Deletion 17803354

Variation tolerance for INSIG2 Gene

Residual Variation Intolerance Score: 51.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INSIG2 Gene

HapMap Linkage Disequilibrium report
INSIG2
Human Gene Mutation Database (HGMD)
INSIG2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INSIG2 Gene

Disorders for INSIG2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for INSIG2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
morbid obesity
  • severe obesity
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for INSIG2

Genetic Association Database (GAD)
INSIG2
Human Genome Epidemiology (HuGE) Navigator
INSIG2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INSIG2
genes like me logo Genes that share disorders with INSIG2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INSIG2 Gene

Publications for INSIG2 Gene

  1. Insig-2, a second endoplasmic reticulum protein that binds SCAP and blocks export of sterol regulatory element-binding proteins. (PMID: 12242332) Yabe D. … Goldstein J.L. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 67
  2. Interactions among genetic variants from SREBP2 activating-related pathway on risk of coronary heart disease in Chinese Han population. (PMID: 19740467) Liu X. … Gu D. (Atherosclerosis 2010) 3 23
  3. Association study of polymorphisms in insulin induced gene 2 (INSIG2) with antipsychotic-induced weight gain in European and African-American schizophrenia patients. (PMID: 20373477) Tiwari A.K. … Kennedy J.L. (Hum Psychopharmacol 2010) 3 23
  4. Characterization of the human insulin-induced gene 2 (INSIG2) promoter: the role of Ets-binding motifs. (PMID: 20145255) FernA!ndez-Alvarez A. … Casado M. (J. Biol. Chem. 2010) 3 23
  5. 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? (PMID: 18195716) Le Hellard S. … Steen V.M. (Mol. Psychiatry 2009) 3 23

Products for INSIG2 Gene

Sources for INSIG2 Gene

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