This region is known to undergo non-allelic homologous recombination (NAHR) with another recombination region, the SUZ12 PRS4 recombination region, which is located a little over 1.2 Mb centromere-distal of this region. NAHR between the SUZ12P1 PRS4 and the SUZ12 PRS4 recombination regions can result in deletions of the intervening sequences, including the neurofibromin 1 (NF1)... See more...

Aliases for LOC108783652 Gene

Aliases for LOC108783652 Gene

  • SUZ12P1 PRS4 Recombination Region 3
  • SUZ12 Polycomb Repressive Complex 2 Subunit Pseudogene 1 Paralogous Recombination Site 4 Recombination Region 3

External Ids for LOC108783652 Gene

Previous GeneCards Identifiers for LOC108783652 Gene

  • GC17U902686

Summaries for LOC108783652 Gene

Entrez Gene Summary for LOC108783652 Gene

  • This region is known to undergo non-allelic homologous recombination (NAHR) with another recombination region, the SUZ12 PRS4 recombination region, which is located a little over 1.2 Mb centromere-distal of this region. NAHR between the SUZ12P1 PRS4 and the SUZ12 PRS4 recombination regions can result in deletions of the intervening sequences, including the neurofibromin 1 (NF1) gene, and is known as a type-2 NF1 deletion, causing neurofibromatosis type 1 (NF1), an autosomal dominant disorder. Unlike other NF1 deletions, type-2 deletions are thought to predominantly occur from mitotic intrachromosomal recombination, since somatic mosaicism is observed in most individuals. This region contains multiple sub-regions, corresponding to different crossover regions. This recombination region is found within a region that shares about 50 kb of high sequence identity with the SUZ12 polycomb repressive complex 2 subunit (SUZ12) gene. Crossovers both proximal and distal to this region have also been identified in some individuals with type-2 NF1 deletions. [provided by RefSeq, Sep 2016]

GeneCards Summary for LOC108783652 Gene

LOC108783652 (SUZ12P1 PRS4 Recombination Region) is a Biological Region gene.

Additional gene information for LOC108783652 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LOC108783652 Gene

Genomics for LOC108783652 Gene

Genomic Locations for LOC108783652 Gene

Genomic Locations for LOC108783652 Gene
chr17:30,772,472-30,774,338
(GRCh38/hg38)
Size:
1,867 bases
Orientation:
Plus strand

Genomic View for LOC108783652 Gene

Genes around LOC108783652 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LOC108783652 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LOC108783652 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LOC108783652 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC108783652 Gene

Proteins for LOC108783652 Gene

Post-translational modifications for LOC108783652 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC108783652 Gene

Domains & Families for LOC108783652 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC108783652 Gene

Function for LOC108783652 Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for LOC108783652 Gene

Localization for LOC108783652 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for LOC108783652 Gene

Pathways & Interactions for LOC108783652 Gene

PathCards logo

SuperPathways for LOC108783652 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LOC108783652 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC108783652 Gene

Drugs & Compounds for LOC108783652 Gene

No Compound Related Data Available

Transcripts for LOC108783652 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC108783652 Gene

No ASD Table

Relevant External Links for LOC108783652 Gene

GeneLoc Exon Structure for
LOC108783652

No data available for mRNA/cDNA for LOC108783652 Gene

Expression for LOC108783652 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LOC108783652 Gene

Orthologs for LOC108783652 Gene

No data available for Orthologs and Evolution for LOC108783652 Gene

Paralogs for LOC108783652 Gene

No data available for Paralogs for LOC108783652 Gene

Variants for LOC108783652 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC108783652 Gene

Disorders for LOC108783652 Gene

No disorders were found for LOC108783652 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC108783652 Gene

Publications for LOC108783652 Gene

  1. Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion. (PMID: 24385046) Mussotter T … Kehrer-Sawatzki H (Human genetics 2014) 3
  2. Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination. (PMID: 24186807) Bengesser K … Kehrer-Sawatzki H (Human mutation 2014) 3
  3. Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder. (PMID: 22837079) Vogt J … Kehrer-Sawatzki H (Human mutation 2012) 3
  4. Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions? (PMID: 20052761) Roehl AC … Kehrer-Sawatzki H (Human mutation 2010) 3
  5. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. (PMID: 20725927) Roehl AC … Kehrer-Sawatzki H (Human mutation 2010) 3

No data available for Mastermind for LOC108783652 Gene

Products for LOC108783652 Gene

Sources for LOC108783652 Gene