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    INS-IGF2 INS-IGF2 readthrough [ Homo sapiens (human) ]

    Gene ID: 723961, updated on 8-Dec-2018

    Summary

    Official Symbol
    INS-IGF2provided by HGNC
    Official Full Name
    INS-IGF2 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:33527
    See related
    Ensembl:ENSG00000129965 Ensembl:ENSG00000284779
    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
    INSIGF
    Summary
    This locus includes two alternatively spliced read-through transcript variants which align to the INS gene in the 5' region and to the IGF2 gene in the 3' region. One transcript is predicted to encode a protein which shares the N-terminus with the INS protein but has a distinct and longer C-terminus, whereas the other transcript is a candidate for nonsense-mediated decay (NMD). The transcripts are imprinted and are paternally expressed in the limb and eye. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in placenta (RPKM 1227.5) and liver (RPKM 104.8) See more
    Orthologs

    Genomic context

    See INS-IGF2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (2129112..2161209, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2150342..2182439, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H19/IGF2 imprinting control region Neighboring gene microRNA 675 Neighboring gene H19, imprinted maternally expressed transcript Neighboring gene microRNA 483 Neighboring gene insulin like growth factor 2 Neighboring gene IGF2 antisense RNA Neighboring gene insulin repeat instability region Neighboring gene microRNA 4686 Neighboring gene insulin Neighboring gene tyrosine hydroxylase

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.
    NHGRI GWA Catalog
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    NHGRI GWA Catalog
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    NHGRI GWA Catalog
    Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystem (from WikiPathways)
      AMP-activated Protein Kinase (AMPK) Signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
    • Type II diabetes mellitus, organism-specific biosystem (from WikiPathways)
      Type II diabetes mellitus, organism-specific biosystemInsulin resistance is strongly associated with type II diabetes. "Diabetogenic" factors including FFA, TNFalpha and cellular stress induce insulin resistance through inhibition of IRS1 functions. Ser...

    General gene information

    Markers

    Readthrough INS-IGF2

    Included genes: IGF2, INS

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    hormone activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    insulin, isoform 2
    Names
    INS-IGF2 readthrough transcript protein
    insulin- insulin-like growth factor 2 read-through product

    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.

    Genomic

    1. NG_050578.1 RefSeqGene

      Range
      5001..19587
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001042376.2NP_001035835.1  insulin, isoform 2 precursor

      See identical proteins and their annotated locations for NP_001035835.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2, also known as INSIGF short) represents the shorter transcript and is protein-coding.
      Source sequence(s)
      AC132217, BQ128162, DQ104204
      Consensus CDS
      CCDS41598.1
      UniProtKB/Swiss-Prot
      F8WCM5
      Related
      ENSP00000380440.1, ENST00000397270.1
      Conserved Domains (1) summary
      cd04367
      Location:2662
      IlGF_insulin_like; IlGF_like family, insulin_like subgroup, specific to vertebrates. Members include a number of peptides including insulin and insulin-like growth factors I and II, which play a variety of roles in controlling processes such as metabolism, growth and ...

    RNA

    1. NR_003512.3 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as INSIGF long) lacks one exon and includes three additional 3' exons, compared to variant 2. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the transcript is a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AC132217, DQ104205
      Related
      ENST00000643349.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

      Range
      2129112..2161209 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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