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LOC107303340 3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [ Homo sapiens (human) ]

Gene ID: 107303340, updated on 23-Nov-2021

Summary

Gene symbol
LOC107303340
Gene description
3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region
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 biological region overlaps the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) between sub-regions within this region, as well as with the 3p25 BRICK1, SCAR/WAVE actin-nucleating complex subunit Alu-mediated recombination region, located about 3 kb upstream of this region on the reference genome. Recombination between these regions can result in deletion of the intervening sequences, including the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. Deletion of either all or part of the VHL gene is one cause of Von Hippel-Lindau syndrome, which is inherited in autosomal dominant manner and predisposes individuals to multiple tumors. Deletions of various size have been reported, many of which are the result of Alu-mediated recombination. The severity of the disease is dependent on both the size and location of the deletion. This recombination region is composed of multiple sub-regions, representing different regions in which Alu-mediated recombination has been observed. Recombination events that result in the deletion of VHL have also been reported in regions overlapping the proline rich transmembrane protein 3 (PRRT3) gene, the Fanconi anemia complementation group D2 (FANCD2) gene, the interleukin 1 receptor associated kinase 2 (IRAK2) gene, and the TatD DNase domain containing 2 (TATDN2) gene. [provided by RefSeq, Mar 2016]
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Genomic context

See LOC107303340 in Genome Data Viewer
Location:
3p25
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (10142339..10160352)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (10184023..10202036)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene FA complementation group D2 Neighboring gene FANCD2 opposite strand Neighboring gene 3p25 BRK1 Alu-mediated recombination region Neighboring gene BRICK1 subunit of SCAR/WAVE actin nucleating complex Neighboring gene 3p25 IRAK2 Alu-mediated recombination region Neighboring gene von Hippel-Lindau tumor suppressor Neighboring gene interleukin 1 receptor associated kinase 2 Neighboring gene Sharpr-MPRA regulatory region 12699 Neighboring gene Sharpr-MPRA regulatory region 8698

Genomic regions, transcripts, and products

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_046756.1 

    Range
    101..18114
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    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    10142339..10160352
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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