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

Gene ID: 51141, updated on 4-May-2020

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
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

Genomic context

See INSIG2 in Genome Data Viewer
Location:
2q14.1-q14.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (118088418..118110997)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (118846033..118867604)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102723413 Neighboring gene uncharacterized LOC107985940 Neighboring gene uncharacterized LOC105373578 Neighboring gene testis associated oncogenic lncRNA Neighboring gene Sharpr-MPRA regulatory region 9538

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26273

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
SREBP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SREBP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
SREBP-SCAP complex retention in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to insulin stimulus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
cranial suture morphogenesis IEA
Inferred from Electronic Annotation
more info
 
inner ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
middle ear morphogenesis IEA
Inferred from Electronic Annotation
more info
 
negative regulation of fatty acid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of steroid biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
response to fatty acid IEA
Inferred from Electronic Annotation
more info
 
response to insulin IEA
Inferred from Electronic Annotation
more info
 
roof of mouth development IEA
Inferred from Electronic Annotation
more info
 
sterol biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
triglyceride metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
SREBP-SCAP-Insig complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SREBP-SCAP-Insig complex IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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_001321329.1NP_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
    Q9Y5U4
    UniProtKB/TrEMBL
    A0A024RAI2
    Related
    ENSP00000484179.1, ENST00000614681.1
    Conserved Domains (1) summary
    pfam07281
    Location:31211
    INSIG; Insulin-induced protein (INSIG)
  2. NM_001321330.1NP_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/Swiss-Prot
    Q9Y5U4
    UniProtKB/TrEMBL
    B4DQ23
    Conserved Domains (1) summary
    pfam07281
    Location:1103
    INSIG; Insulin-induced protein (INSIG)
  3. NM_001321331.1NP_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/Swiss-Prot
    Q9Y5U4
    UniProtKB/TrEMBL
    B4DQ23
    Conserved Domains (1) summary
    pfam07281
    Location:1103
    INSIG; Insulin-induced protein (INSIG)
  4. NM_001321332.1NP_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/Swiss-Prot
    Q9Y5U4
    UniProtKB/TrEMBL
    B4DQ23
    Conserved Domains (1) summary
    pfam07281
    Location:1103
    INSIG; Insulin-induced protein (INSIG)
  5. NM_001321333.1NP_001308262.1  insulin-induced gene 2 protein isoform c

    Status: REVIEWED

    Source sequence(s)
    AC009303, AF527632, AK021692, AW264638, HY053967
    UniProtKB/Swiss-Prot
    Q9Y5U4
    Related
    ENST00000471186.5
    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
    Q9Y5U4
    UniProtKB/TrEMBL
    A0A024RAI2
    Related
    ENSP00000245787.4, ENST00000245787.9
    Conserved Domains (1) summary
    pfam07281
    Location:31211
    INSIG; Insulin-induced protein (INSIG)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    118088418..118110997
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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