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Aliases for LOC109029533 Gene

Aliases for LOC109029533 Gene

  • Cystatin B Upstream Repeat Instability Region 3
  • Progressive Myoclonus Epilepsy Repeat Instability Region 3
  • CSTB Upstream Repeat Instability Region 3
  • EPM1 Repeat Instability Region 3

External Ids for LOC109029533 Gene

Summaries for LOC109029533 Gene

Entrez Gene Summary for LOC109029533 Gene

  • This biological region is found just upstream of the cystatin B (CSTB) gene on the q arm of chromosome 22, and contains a CCCCGCCCCGCG dodecamer repeat. Allelic variation in this region has been observed, but the reference genome contains three copies of the repeat. Expansions of this repeat are known to be a cause of progressive myoclonus epilepsy of the Unverricht-Lundborg type (EPM1), an autosomal recessive disorder. Alleles with 12-17 repeats display reduced stability, while expanded alleles of about 45-75 repeats have been observed, and are disease-causing. Expansion of the repeat results in reduced expression of cystatin B in some cell types. In vitro studies indicate that the dodecamer repeat may adopt secondary structures. [provided by RefSeq, Nov 2016]

GeneCards Summary for LOC109029533 Gene

LOC109029533 (Cystatin B Upstream Repeat Instability Region) is a Biological Region gene. Diseases associated with LOC109029533 include Myoclonus Epilepsy and Progressive Myoclonus Epilepsy.

Additional gene information for LOC109029533 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LOC109029533 Gene

Genomics for LOC109029533 Gene

Genomic Locations for LOC109029533 Gene

Genomic Locations for LOC109029533 Gene
chr21:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109029533 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC109029533 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC109029533 Gene

Proteins for LOC109029533 Gene

Post-translational modifications for LOC109029533 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109029533 Gene

Domains & Families for LOC109029533 Gene

Graphical View of Domain Structure for InterPro Entry

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for LOC109029533 Gene

Function for LOC109029533 Gene

Animal Model Products

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 LOC109029533 Gene

Localization for LOC109029533 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 LOC109029533 Gene

Pathways & Interactions for LOC109029533 Gene

PathCards logo

SuperPathways for LOC109029533 Gene

No Data Available

Interacting Proteins for LOC109029533 Gene

Gene Ontology (GO) - Biological Process for LOC109029533 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC109029533 Gene

Drugs & Compounds for LOC109029533 Gene

No Compound Related Data Available

Transcripts for LOC109029533 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109029533 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109029533 Gene

Expression for LOC109029533 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 LOC109029533 Gene

Orthologs for LOC109029533 Gene

No data available for Orthologs and Evolution for LOC109029533 Gene

Paralogs for LOC109029533 Gene

No data available for Paralogs for LOC109029533 Gene

Variants for LOC109029533 Gene

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , Structural Variations from Database of Genomic Variants (DGV) , Variation tolerance and Additional Variant Information for LOC109029533 Gene

Disorders for LOC109029533 Gene

MalaCards: The human disease database

(3) MalaCards diseases for LOC109029533 Gene - From: GeneCards

Disorder Aliases PubMed IDs
myoclonus epilepsy
  • epilepsies, myoclonic
progressive myoclonus epilepsy
  • progressive myoclonic epilepsy
epilepsy
  • epilepsy syndrome
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC109029533: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109029533 Gene

Publications for LOC109029533 Gene

  1. Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB. (PMID: 22573514) Borel C … Antonarakis SE (Human mutation 2012) 3 58
  2. The contribution of cis-elements to disease-associated repeat instability: clinical and experimental evidence. (PMID: 14526163) Cleary JD … Pearson CE (Cytogenetic and genome research 2003) 3 58
  3. Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats. (PMID: 11571333) Mazarib A … Berkovic SF (Neurology 2001) 3 58
  4. Progressive myoclonus epilepsy [EPM1] repeat d(CCCCGCCCCGCG)n forms folded hairpin structures at physiological pH. (PMID: 11697734) Pataskar SS … Brahmachari SK (Journal of biomolecular structure & dynamics 2001) 3 58
  5. Intramolecular i-motif structure at acidic pH for progressive myoclonus epilepsy (EPM1) repeat d(CCCCGCCCCGCG)n. (PMID: 11697735) Pataskar SS … Brahmachari SK (Journal of biomolecular structure & dynamics 2001) 3 58

No data available for External Links for LOC109029533 Gene

Products for LOC109029533 Gene

Sources for LOC109029533 Gene

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