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

    Gene ID: 723961, updated on 10-Dec-2024

    Summary

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    Official Symbol
    INS-IGF2provided by HGNC
    Official Full Name
    INS-IGF2 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:33527
    See related
    Ensembl:ENSG00000129965 AllianceGenome:HGNC:33527
    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
    all
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    Genomic context

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    See INS-IGF2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2129117..2161209, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2216758..2248857, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2150347..2182439, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene mitochondrial ribosomal protein L23 Neighboring gene H19/IGF2 enhancer region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2018584-2019431 Neighboring gene long intergenic non-protein coding RNA 1219 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2034666-2035394 Neighboring gene H19/IGF2 imprinting control region Neighboring gene microRNA 675 Neighboring gene H19 imprinted maternally expressed transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2118490-2119132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2121061-2121703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2121704-2122345 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2135598-2135868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2148496-2149320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2155593-2156179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2158413-2159034 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Linkage disequilibrium in the human insulin/insulin-like growth factor II region of human chromosome II. Cox NJ, et al. Am J Hum Genet, 1988 Oct. PMID 2902788, Free PMC Article
    2. Parental imprinting effect at the INS-IGF2 diabetes susceptibility locus. Polychronakos C, et al. Diabetologia, 1995 Jun. PMID 7672495
    3. lncINS-IGF2 Promotes Cell Proliferation and Migration by Promoting G1/S Transition in Lung Cancer. Gao S, et al. Technol Cancer Res Treat, 2019 Jan 1. PMID 30803359, Free PMC Article
    4. Periconception maternal smoking and low education are associated with methylation of INSIGF in children at the age of 17 months. Obermann-Borst SA, et al. J Dev Orig Health Dis, 2012 Oct. PMID 25102259
    5. Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia. Mannens M, et al. Eur J Hum Genet, 1994. PMID 7913866

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Large parental differences in chromatin organization in pancreatic beta cell line explaining diabetes susceptibility effects.
      Title: Large parental differences in chromatin organization in pancreatic beta cell line explaining diabetes susceptibility effects.
    2. GWAS of five gynecologic diseases and cross-trait analysis in Japanese.
      Title: GWAS of five gynecologic diseases and cross-trait analysis in Japanese.
    3. High INS-IGF2 expression is associated with Lung Cancer.
      Title: lncINS-IGF2 Promotes Cell Proliferation and Migration by Promoting G1/S Transition in Lung Cancer.
    4. We identified three known loci (TCF7L2, HMGA2 and KCNQ1) and two novel loci (HLA-B and INS-IGF2) at genome-wide significance (4.15 x 10(-94)
      Title: Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.
    5. Periconception maternal smoking and low education are associated with dna methylation on INSIGF in the very young child.
      Title: Periconception maternal smoking and low education are associated with methylation of INSIGF in children at the age of 17 months.
    6. INS-IGF2 and insulin may share autoantibody-binding sites, thus complicating the notion that insulin is the primary autoantigen in type 1 diabetes.
      Title: Autoimmunity against INS-IGF2 protein expressed in human pancreatic islets.
    7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    Submit: New GeneRIF Correction

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

    Readthrough INS-IGF2

    Included genes: IGF2, INS

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables hormone activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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

    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.

    Genomic

    1. NG_050578.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001042376.3 → NP_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
      UniProtKB/Swiss-Prot
      F8WCM5, Q1WM24
      Related
      ENSP00000380440.1, ENST00000397270.1
      Conserved Domains (1) summary
      cd04367
      Location:26 → 62
      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_003512.4 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

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2129117..2161209 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2216758..2248857 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    F8WCM5.1 GenPept UniProtKB/Swiss-Prot:F8WCM5

    Gene LinkOut

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

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