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

Gene ID: 723961, updated on 5-Mar-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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Location:
11p15.5
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2129117..2161209, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2216758..2248857, complement)
105.20220307 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: 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. Large parental differences in chromatin organization in pancreatic beta cell line explaining diabetes susceptibility effects. Jian X, et al. Nat Commun, 2021 Jul 15. PMID 34267199, Free PMC Article
  2. 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
  3. 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
  4. Autoimmunity against INS-IGF2 protein expressed in human pancreatic islets. Kanatsuna N, et al. J Biol Chem, 2013 Oct 4. PMID 23935095, Free PMC Article
  5. Evidence for a Type 1 diabetes-specific mechanism for the insulin gene-associated IDDM2 locus rather than a general influence on autoimmunity. Tait KF, et al. Diabet Med, 2004 Mar. PMID 15008838

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)

Genotypes

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_2023_10

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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