This region is a highly variable minisatellite region found within an intron of the on the protein tyrosine phosphatase, receptor type N2 (PTPRN2) gene, on the q arm of chromosome 7. The D7S22 minisatellite is an unstable GC-rich variable number tandem repeat (VNTR) with repeat units of 33-37 nucleotides in length and strand asymmetry in nucleotide composition. The consensus se... See more...

Aliases for LOC110599567 Gene

Aliases for LOC110599567 Gene

  • D7S22 Minisatellite Repeat Instability Region 3
  • G3 Minisatellite Repeat Instability Region 3

External Ids for LOC110599567 Gene

Summaries for LOC110599567 Gene

Entrez Gene Summary for LOC110599567 Gene

  • This region is a highly variable minisatellite region found within an intron of the on the protein tyrosine phosphatase, receptor type N2 (PTPRN2) gene, on the q arm of chromosome 7. The D7S22 minisatellite is an unstable GC-rich variable number tandem repeat (VNTR) with repeat units of 33-37 nucleotides in length and strand asymmetry in nucleotide composition. The consensus sequence of the repeat unit is AGAAAGGCGGGYGGTGTGGGCAGGGAGRGGCAGGAAT, relative to the minus strand of the reference genome. Sequences within the consensus repeat sequence shares similarity to the PRDM9 A binding motif (LD hotspot motif), differing by just a single nucleotide from the 13-mer consensus motif, CCNCCNTNNCCNC, compared to the plus strand of the reference genome. There is a meiotic recombination hotspot that overlaps the repeat region. The repeat is an imperfect repeat, with a tandem array of similar, but non-identical repeats. This region shows very high heterozygosity, with some alleles having as few as six repeat units, while others have more than 525 repeat units. Instability at this locus is observed in germline cells, with a paternal bias in the mutation rate, and a higher mutation rate in alleles with larger repeat arrays. [provided by RefSeq, Jul 2017]

GeneCards Summary for LOC110599567 Gene

LOC110599567 (D7S22 Minisatellite Repeat Instability Region) is a Biological Region gene.

Additional gene information for LOC110599567 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 LOC110599567 Gene

Genomics for LOC110599567 Gene

Genomic Locations for LOC110599567 Gene

Genomic Locations for LOC110599567 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110599567 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC110599567 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC110599567 Gene

Proteins for LOC110599567 Gene

Post-translational modifications for LOC110599567 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110599567 Gene

Domains & Families for LOC110599567 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC110599567 Gene

Function for LOC110599567 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 LOC110599567 Gene

Localization for LOC110599567 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 LOC110599567 Gene

Pathways & Interactions for LOC110599567 Gene

PathCards logo

SuperPathways for LOC110599567 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC110599567 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC110599567 Gene

Drugs & Compounds for LOC110599567 Gene

No Compound Related Data Available

Transcripts for LOC110599567 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110599567 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110599567 Gene

Expression for LOC110599567 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 LOC110599567 Gene

Orthologs for LOC110599567 Gene

No data available for Orthologs and Evolution for LOC110599567 Gene

Paralogs for LOC110599567 Gene

No data available for Paralogs for LOC110599567 Gene

Variants for LOC110599567 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 LOC110599567 Gene

Disorders for LOC110599567 Gene

No disorders were found for LOC110599567 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110599567 Gene

Publications for LOC110599567 Gene

  1. DNA recombination. Recombination initiation maps of individual human genomes. (PMID: 25395542) Pratto F … Camerini-Otero RD (Science (New York, N.Y.) 2014) 3 54
  2. A common sequence motif associated with recombination hot spots and genome instability in humans. (PMID: 19165926) Myers S … McVean G (Nature genetics 2008) 3 54
  3. Toward a complete human genome sequence. (PMID: 9847074) Sanger Center … Genome Sequencing Center (Genome research 1998) 3 54
  4. Study of three hypervariable DNA loci (D1S7; D7S22 and D12S11) in three European populations. (PMID: 9483206) Papiha SS … Chakraborty R (Annals of human biology 1998) 3 54
  5. De novo mutations and allelic diversity at minisatellite locus D7S22 investigated by allele-specific four-state MVR-PCR analysis. (PMID: 9817929) Andreassen R … Olaisen B (Human molecular genetics 1998) 3 54

No data available for Mastermind for LOC110599567 Gene

Products for LOC110599567 Gene

Sources for LOC110599567 Gene