U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

LOC109461477 dystrophia myotonica protein kinase repeat instability region [ Homo sapiens (human) ]

Gene ID: 109461477, updated on 17-Sep-2024

Summary

Go to the top of the page Help
Gene symbol
LOC109461477
Gene description
dystrophia myotonica protein kinase repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: repeat_instability_region
repeat_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 in the 3' untranslated region of the dystrophia myotonica protein kinase gene on the q arm of chromosome 19. This region contains a highly polymorphic (CTG)n trinucleotide repeat that is susceptible to expansions, sometimes resulting in myotonic dystrophy type 1, an autosomal dominant disorder. Alleles with 35-49 repeat units are susceptible to expansions, while alleles with more than 50 repeat units are associated with myotonic dystrophy type 1. Severity of the disease is correlated to CTG repeat number. Changes in chromatin structure, resulting in decreased gene expression of neighboring genes, altered RNA metabolism, and repeat-associated non-ATG translation (RAN translation) have all been implicated in disease pathogenesis. [provided by RefSeq, Dec 2016]
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See LOC109461477 in Genome Data Viewer
Location:
19q13.32
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (45770205..45770266)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (48597740..48597756)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (46273463..46273524)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene meiosis initiator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46250835-46251627 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46266800-46267354 Neighboring gene origin of replication in DMPK trinucleotide repeat region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270229-46270864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46270929-46271488 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14819 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10796 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14820 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10797 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:46274849-46275406 Neighboring gene SIX homeobox 5 Neighboring gene DM1 locus antisense RNA Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46280233-46280966 Neighboring gene DM1 protein kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14822 Neighboring gene DM1 locus, WD repeat containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:46304143-46305004 Neighboring gene radial spoke head 6 homolog A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr19:46313062-46314261

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. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Brunner HG, et al. Am J Hum Genet, 1993 Nov. PMID 8213829, Free PMC Article
  2. Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy. Kuyumcu-Martinez NM, et al. Prog Mol Subcell Biol, 2006. PMID 17076268, Free PMC Article
  3. Clinical case report atypical myopathy in a young girl with 91 CTG repeats in DM1 locus and a positive DM1 family history. Savić D, et al. Int J Neurosci, 2006 Dec. PMID 17145685
  4. Ribonuclear foci at the neuromuscular junction in myotonic dystrophy type 1. Wheeler TM, et al. Neuromuscul Disord, 2007 Mar. PMID 17306536, Free PMC Article
  5. Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients. Salehi LB, et al. Genet Test, 2007 Spring. PMID 17394397

See all (133) 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

  • DM1 repeat instability region
  • DMPK repeat instability region
  • myotonic dystrophy type 1 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_052615.1 

    Range
    101..162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    45770205..45770266
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    48597740..48597756
    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