U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC109623489 insulin repeat instability region [ Homo sapiens (human) ]

Gene ID: 109623489, updated on 10-Oct-2023

Summary

Go to the top of the page Help
Gene symbol
LOC109623489
Gene description
insulin repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif, repeat_instability_region
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This biological region is found near the 5' region of the insulin (INS) gene on the p arm of chromosome 11, and contains a highly variable region with tandem repeats of 14-16 nucleotides in length. Alleles have been classified into three different types, based on their size and repeat composition. Class I alleles are the smallest, containing 26-62 repeats, class II alleles are intermediate in size with 53-140 repeats, while class III alleles contain 141-209 repeats. There is a bimodal allele length distribution for the repeat region, with about 70% of individuals having the small class I alleles, 30% of individuals with class III alleles, and very few with class II alleles. Different variant repeats within the region have been identified and are named A-J based on their nucleotide composition. The A repeat is the consensus motif, most frequently observed, with the sequence ACAGGGGTGTGGGG. Both mitotic and meiotic repeat instability has been observed at this region, and is predicted to occur as a result of polymerase slippage events as well as inter- and intra-allelic rearrangements within the repeat region. Differences in the repeat region have been shown to affect expression levels of proinsulin, and may contribute to susceptibility to a variety of diseases. [provided by RefSeq, Feb 2017]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
11p15.5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2161574..2161971)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2250927..2251337)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2182804..2183201)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene INS-IGF2 readthrough Neighboring gene insulin like growth factor 2 Neighboring gene IGF2 antisense RNA Neighboring gene insulin Neighboring gene tyrosine hydroxylase Neighboring gene microRNA 4686

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Insulin gene VNTR polymorphisms -2221MspI and -23HphI are associated with type 1 diabetes and latent autoimmune diabetes in adults: a meta-analysis. Zhang N, et al. Acta Diabetol, 2015 Dec. PMID 26362169
  2. Both polymorphic variable number of tandem repeats and autoimmune regulator modulate differential expression of insulin in human thymic epithelial cells. Cai CQ, et al. Diabetes, 2011 Jan. PMID 20876716, Free PMC Article
  3. An engineered zinc finger protein reveals a role for the insulin VNTR in the regulation of the insulin and adjacent IGF2 genes. Ferguson LA, et al. FEBS Lett, 2009 Oct 6. PMID 19733567
  4. ILPR repeats adopt diverse G-quadruplex conformations that determine insulin binding. Schonhoft JD, et al. Biopolymers, 2010 Jan. PMID 19688813
  5. The insulin gene variable number of tandemrepeats (INS VNTR) genotype and sleep disordered breathing in childhood obesity. Carotenuto M, et al. J Endocrinol Invest, 2009 Oct. PMID 19574727

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

Go to the top of the page Help

Other Names

  • INS repeat instability region

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

Genomic

  1. NG_052838.1 

    Range
    101..498
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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
    2161574..2161971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    2250927..2251337
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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

Molecular Biology Databases