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

    Gene ID: 51141, updated on 7-Apr-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See INSIG2 in Genome Data Viewer
    Location:
    2q14.1-q14.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (118088471..118110997)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (118521717..118544171)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001321329.2NP_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:31211
      INSIG; Insulin-induced protein (INSIG)
    2. NM_001321330.2NP_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:1103
      INSIG; Insulin-induced protein (INSIG)
    3. NM_001321331.2NP_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:1103
      INSIG; Insulin-induced protein (INSIG)
    4. NM_001321332.2NP_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:1103
      INSIG; Insulin-induced protein (INSIG)
    5. NM_001321333.2NP_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:167
      INSIG; Insulin-induced protein (INSIG)
    6. NM_016133.4NP_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:31211
      INSIG; Insulin-induced protein (INSIG)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047444640.1XP_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_054342404.1XP_054198379.1  insulin-induced gene 2 protein isoform X1

      UniProtKB/Swiss-Prot
      A8K5W8, Q8TBI8, Q9Y5U4
    2. XM_054342405.1XP_054198380.1  insulin-induced gene 2 protein isoform X1

      UniProtKB/Swiss-Prot
      A8K5W8, Q8TBI8, Q9Y5U4