LOC107303337 3p25 PRRT3 Alu-mediated recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107303337
Gene description: 3p25 PRRT3 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 proline rich transmembrane protein 3 (PRRT3) gene and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with the 3p25 interleukin 1 receptor associated kinase 2 Alu-mediated recombination region, located about 214 kb downstream 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 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. Recombination events that result in the deletion of VHL have also been reported in regions overlapping the BRICK1, SCAR/WAVE actin-nucleating complex subunit (BRK1) gene, the Fanconi anemia complementation group D2 (FANCD2) gene, the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene, and the TatD DNase domain containing 2 (TATDN2) gene. [provided by RefSeq, Mar 2016]
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Genomic context

Location:: 3p25

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (9950513..9950802)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (9942497..9942786)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (9992197..9992486)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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

3p25 proline rich transmembrane protein 3 recombination 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.