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LOC108644431 myotonic dystrophy type 2 repeat instability region [ Homo sapiens (human) ]

Gene ID: 108644431, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108644431
Gene description
myotonic dystrophy type 2 repeat instability region
Gene type
biological region
Feature type(s)
misc_feature: nucleotide_motif, 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 within an intron of the CCHC-type zinc finger nucleic acid binding protein (CNBP) gene on the q arm of chromosome 3, and contains a CCTG tetranucleotide repeat. Expansions of this repeat are known to be a cause of myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy (PROMM), an autosomal dominant clinically variable disorder. Expanded alleles contain elongations of the CCTG tract, accompanied by loss of some of the intervening sequence, and can contain from 75-11,000 CCTG repeats. Expanded repeats are thought to adopt non B-DNA structures. [provided by RefSeq, Jan 2017]
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Genomic context

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Location:
3q21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (129172573..129172733)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (131917479..131917625)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (128891416..128891576)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128807293-128807837 Neighboring gene ISY1-RAB43 readthrough Neighboring gene RAB43, member RAS oncogene family Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128831162-128831662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:128838731-128839676 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14718 Neighboring gene ISY1 splicing factor homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20503 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20505 Neighboring gene CCHC-type zinc finger nucleic acid binding protein Neighboring gene uncharacterized LOC105374101 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20506 Neighboring gene NFE2L2 motif-containing MPRA enhancer 136 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:128931398-128931601 Neighboring gene ribosomal protein S27 pseudogene 12

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Minidumbbell: A New Form of Native DNA Structure. Guo P, et al. J Am Chem Soc, 2016 Sep 28. PMID 27589409
  2. New insights into the genetic instability in CCTG repeats. Guo P, et al. FEBS Lett, 2015 Oct 7. PMID 26384951
  3. Clinical and genetic analysis of the first known Asian family with myotonic dystrophy type 2. Nakayama T, et al. J Hum Genet, 2014 Mar. PMID 24430576, Free PMC Article
  4. Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus. Radvanszky J, et al. Neuromuscul Disord, 2013 Jul. PMID 23561036
  5. The unstable CCTG repeat responsible for myotonic dystrophy type 2 originates from an AluSx element insertion into an early primate genome. Kurosaki T, et al. PLoS One, 2012. PMID 22723857, Free PMC Article

See all (39) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • CCHC-type zinc finger nucleic acid binding protein intronic repeat instability region
  • CNBP CCTG repeat instability region
  • DM2 repeat instability region

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_051500.1 

    Range
    101..261
    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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    129172573..129172733
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    131917479..131917625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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