help  | about  | cite  | software

Gene : LOC107303341 Homo sapiens

Name  ? 3p25 IRAK2 Alu-mediated recombination region Cytological Location  3p25
description  This biological region overlaps the interleukin 1 receptor associated kinase 2 (IRAK2) gene and is known to undergo Alu-repeat-mediated non-allelic homologous recombination (NAHR) with recombination regions that overlap the proline rich transmembrane protein 3 (PRRT3) gene, the Fanconi anemia complementation group D2 (FANCD2) gene, the BRICK1, SCAR/WAVE actin-nucleating complex subunit (BRK1) gene, and the von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase (VHL) gene. These other recombination regions are located 214 kb, 86 kb, 26 kb, and 4 kb centromere-distal to this region on the reference genome, respectively. 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. This recombination region is composed of multiple sub-regions, representing different regions in which Alu-mediated recombination has been observed, and also contains several overlapping meiotic recombination hotspots. Recombination events that result in the deletion of VHL have also been reported in regions overlapping the TatD DNase domain containing 2 (TATDN2) gene. [provided by RefSeq, Oct 2016]
  • identifiers:
  • 107303341,
  • LOC107303341

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 3p25


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

0 Pathways

Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Gene --> Orthologues

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

0 SN Ps

1 Cross References

3 Data Sets

0 Homologues

0 Located Features

0 Rna Seq Results