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INSIG2 insulin induced gene 2 [ Homo sapiens (human) ]

Gene ID: 51141, updated on 27-Nov-2024

Summary

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Official Symbol
INSIG2provided by HGNC
Official Full Name
insulin induced gene 2provided by HGNC
Primary source
HGNC:HGNC:20452
See related
Ensembl:ENSG00000125629 MIM:608660; AllianceGenome:HGNC:20452
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
INSIG-2
Summary
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]
Expression
Ubiquitous expression in liver (RPKM 12.3), lung (RPKM 10.5) and 25 other tissues See more
Orthologs
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Genomic context

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See INSIG2 in Genome Data Viewer
Location:
2q14.1-q14.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (118088471..118110997)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (118521717..118544171)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (118846047..118868573)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723413 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16438 Neighboring gene uncharacterized LOC107985940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16439 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16440 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:118873325-118874524 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:118880595-118881794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16441 Neighboring gene uncharacterized LOC124907879 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:118899713-118900386 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16443 Neighboring gene testis associated oncogenic lncRNA

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. The common genetic variant upstream of INSIG2 gene is not associated with obesity in Indian population. Kumar J, et al. Clin Genet, 2007 May. PMID 17489846
  2. A tagging SNP in INSIG2 is associated with obesity-related phenotypes among Samoans. Deka R, et al. BMC Med Genet, 2009 Dec 22. PMID 20028541, Free PMC Article
  3. Common INSIG2 polymorphisms are associated with age-related changes in body size and high-density lipoprotein cholesterol from young adulthood to middle age. Fornage M, et al. Metabolism, 2010 Aug. PMID 20045156, Free PMC Article
  4. Identification and replication of a novel obesity locus on chromosome 1q24 in isolated populations of Cilento. Ciullo M, et al. Diabetes, 2008 Mar. PMID 18162505
  5. Association study of polymorphisms in insulin induced gene 2 (INSIG2) with antipsychotic-induced weight gain in European and African-American schizophrenia patients. Tiwari AK, et al. Hum Psychopharmacol, 2010 Apr. PMID 20373477

See all (113) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genome-wide loss-of-function genetic screen identifies INSIG2 as the vulnerability of hepatitis B virus-integrated hepatoma cells.
    Title: Genome-wide loss-of-function genetic screen identifies INSIG2 as the vulnerability of hepatitis B virus-integrated hepatoma cells.
  2. Insulin-induced gene 2 expression is associated with cervical adenocarcinoma malignant behavior.
    Title: Insulin-induced gene 2 expression is associated with cervical adenocarcinoma malignant behavior.
  3. Structural basis for sterol sensing by Scap and Insig.
    Title: Structural basis for sterol sensing by Scap and Insig.
  4. Insulin-induced genes INSIG1 and INSIG2 mediate oxysterol-dependent activation of the PERK-eIF2alpha-ATF4 axis.
    Title: Insulin-induced genes INSIG1 and INSIG2 mediate oxysterol-dependent activation of the PERK-eIF2α-ATF4 axis.
  5. Association of CNR1 and INSIG2 polymorphisms with antipsychotics-induced weight gain: a prospective nested case-control study.
    Title: Association of CNR1 and INSIG2 polymorphisms with antipsychotics-induced weight gain: a prospective nested case-control study.
  6. Polymorphic variants INSIG2 rs6726538, HLA-DRB1 rs9272143, and GCNT1P5 rs7780883 contribute to the susceptibility of cervical cancer in the Bangladeshi women.
    Title: Polymorphic variants INSIG2 rs6726538, HLA-DRB1 rs9272143, and GCNT1P5 rs7780883 contribute to the susceptibility of cervical cancer in the Bangladeshi women.
  7. A structure of human Scap bound to Insig-2 suggests how their interaction is regulated by sterols.
    Title: A structure of human Scap bound to Insig-2 suggests how their interaction is regulated by sterols.
  8. The CC Genotype of Insulin-Induced Gene 2 rs7566605 Is a Protective Factor of Hypercholesteremia Susceptible to Mild Cognitive Impairment, Especially to the Executive Function of Patients with Type 2 Diabetes Mellitus.
    Title: The CC Genotype of Insulin-Induced Gene 2 rs7566605 Is a Protective Factor of Hypercholesteremia Susceptible to Mild Cognitive Impairment, Especially to the Executive Function of Patients with Type 2 Diabetes Mellitus.
  9. Insulin-Induced Gene 2 Expression Is Associated with Breast Cancer Metastasis.
    Title: Insulin-Induced Gene 2 Expression Is Associated with Breast Cancer Metastasis.
  10. the gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis; findings highlight the importance of the protein kinase activity of PCK1 in the activation of SREBPs, lipogenesis and the development of hepatocellular carcinoma
    Title: The gluconeogenic enzyme PCK1 phosphorylates INSIG1/2 for lipogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (86)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC26273

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables oxysterol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein sequestering activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in SREBP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in SREBP signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in SREBP-SCAP complex retention in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in SREBP-SCAP complex retention in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cranial suture morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
involved_in roof of mouth development IEA
Inferred from Electronic Annotation
more info
  
involved_in triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of SREBP-SCAP-Insig complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SREBP-SCAP-Insig complex IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
insulin-induced gene 2 protein
Names
INSIG2 membrane protein
insulin induced protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001321329.2 → NP_001308258.1  insulin-induced gene 2 protein isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) and variant 1 both encode the same isoform (a).
    Source sequence(s)
    AC009303, AF527632, AW264638, BE888848
    Consensus CDS
    CCDS2122.1
    UniProtKB/Swiss-Prot
    A8K5W8, Q8TBI8, Q9Y5U4
    Conserved Domains (1) summary
    pfam07281
    Location:31 → 211
    INSIG; Insulin-induced protein (INSIG)

  2. NM_001321330.2 → NP_001308259.1  insulin-induced gene 2 protein isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) and variants 4 and 5 all encode the same isoform (b).
    Source sequence(s)
    AC009303, AF527632, AW264638, DC364733, HY053967
    UniProtKB/TrEMBL
    B4DQ23
    Conserved Domains (1) summary
    pfam07281
    Location:1 → 103
    INSIG; Insulin-induced protein (INSIG)

  3. NM_001321331.2 → NP_001308260.1  insulin-induced gene 2 protein isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) and variants 3 and 5 all encode the same isoform (b).
    Source sequence(s)
    AC009303, AF527632, AW264638, BX647805, HY053967
    UniProtKB/TrEMBL
    B4DQ23
    Related
    ENST00000485520.5
    Conserved Domains (1) summary
    pfam07281
    Location:1 → 103
    INSIG; Insulin-induced protein (INSIG)

  4. NM_001321332.2 → NP_001308261.1  insulin-induced gene 2 protein isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) and variants 3 and 4 all encode the same isoform (b).
    Source sequence(s)
    AC009303, AF527632, AW264638, BE888848, BX647805
    UniProtKB/TrEMBL
    B4DQ23
    Conserved Domains (1) summary
    pfam07281
    Location:1 → 103
    INSIG; Insulin-induced protein (INSIG)

  5. NM_001321333.2 → NP_001308262.1  insulin-induced gene 2 protein isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009303, AF527632, AK021692, AW264638, HY053967
    UniProtKB/Swiss-Prot
    Q9Y5U4
    Conserved Domains (1) summary
    pfam07281
    Location:1 → 67
    INSIG; Insulin-induced protein (INSIG)

  6. NM_016133.4 → NP_057217.2  insulin-induced gene 2 protein isoform a

    See identical proteins and their annotated locations for NP_057217.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) and variant 2 both encode the same isoform (a).
    Source sequence(s)
    AC009303, AF527632, AW264638, HY053967
    Consensus CDS
    CCDS2122.1
    UniProtKB/Swiss-Prot
    A8K5W8, Q8TBI8, Q9Y5U4
    Related
    ENSP00000245787.4, ENST00000245787.9
    Conserved Domains (1) summary
    pfam07281
    Location:31 → 211
    INSIG; Insulin-induced protein (INSIG)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    118088471..118110997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444640.1 → XP_047300596.1  insulin-induced gene 2 protein isoform X1

    UniProtKB/Swiss-Prot
    A8K5W8, Q8TBI8, Q9Y5U4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    118521717..118544171
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054342404.1 → XP_054198379.1  insulin-induced gene 2 protein isoform X1

    UniProtKB/Swiss-Prot
    A8K5W8, Q8TBI8, Q9Y5U4

  2. XM_054342405.1 → XP_054198380.1  insulin-induced gene 2 protein isoform X1

    UniProtKB/Swiss-Prot
    A8K5W8, Q8TBI8, Q9Y5U4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y5U4.2 GenPept UniProtKB/Swiss-Prot:Q9Y5U4

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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