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LOC108720144 DPY19L2 LCR1 recombination region 2 [ Homo sapiens (human) ]

Gene ID: 108720144, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108720144
Gene description
DPY19L2 LCR1 recombination region 2
Gene type
biological region
Feature type(s)
misc_recomb: non_allelic_homologous
mobile_element
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This region is known to undergo non-allelic homologous recombination (NAHR) with a similar low-copy repeat region (LCR), the DPY19L2 LCR2 recombination region 2, which is located 195 kb centromere-distal to this region. NAHR between these regions can result in deletions of the intervening sequence, including the dpy-19-like 2 (DPY19L2) gene. This region is contained within a larger 28 kb low-copy repeat (LCR) region. The recombination region represented here is composed of multiple sub-regions, named BP8 and BP9, that have been identified as NAHR exchange sites in different individuals, and are found within a retrotranspon element. NAHR events that lead to deletions of the 195 kb of sequence between the DPY19L2 LCR1 and LCR2 recombination regions, which includes DPY19L2, can be a cause of globozoospermia, an autosomal recessive disorder that results in infertility in males. Another region, the DPY19L2 LCR1 recombination region 1, is also known to undergo NAHR events that can be a cause of globozoospermia, and is found about 8 kb centromere-proximal to this region, within the low-copy repeat region. [provided by RefSeq, Sep 2016]
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Genomic context

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See LOC108720144 in Genome Data Viewer
Location:
12q14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (63551426..63551780)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (63530097..63530451)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (63945206..63945560)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 69 Neighboring gene long intergenic non-protein coding RNA 3056 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:63812284-63813483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4612 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4613 Neighboring gene DPY19L2 LCR1 recombination region 1 Neighboring gene uncharacterized LOC105369797 Neighboring gene dpy-19 like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6585 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:64062679-64063180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:64063181-64063680 Neighboring gene S100A11 pseudogene 4 Neighboring gene T-box 20 pseudogene

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. Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Elinati E, et al. Hum Mol Genet, 2012 Aug 15. PMID 22653751

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

  • DPY19L2 low copy repeat 1 recombination region 2

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_051615.1 

    Range
    101..455
    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    63551426..63551780
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    63530097..63530451
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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