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Aliases for LOC109504725 Gene

Aliases for LOC109504725 Gene

  • Androgen Receptor Repeat Instability Region 3
  • Spinal And Bulbar Muscular Atrophy Repeat Instability Region 3
  • SBMA Repeat Instability Region 3
  • AR Repeat Instability Region 3

External Ids for LOC109504725 Gene

Summaries for LOC109504725 Gene

Entrez Gene Summary for LOC109504725 Gene

  • This biological region is found within the 5' region of the androgen receptor gene on the q arm of the X chromosome, and contains a CAG trinucleotide repeat. Expansions of this repeat result in an elongated polyglutamine tract in the encoded protein, and are known to be a cause of spinal and bulbar muscular atrophy (SBMA, also known as Kennedy's disease). This is a highly polymorphic region, with up to 34 repeats in unaffected individuals, reduced penetrance with 36-37 repeats, while the disease phenotype can be observed with 37 or more repeats. Expanded alleles exhibit instability, with greater instability observed during male transmissions. In many cases, there is a direct correlation between CAG repeat number and severity of disease, and in inverse relationship with age of disease onset and repeat number. Exceptions to this have been noted, and CAG repeat number does not account for all of the observed phenotypic variation. [provided by RefSeq, Jan 2017]

GeneCards Summary for LOC109504725 Gene

LOC109504725 (Androgen Receptor Repeat Instability Region) is a Biological Region gene. Diseases associated with LOC109504725 include Muscular Atrophy.

Additional gene information for LOC109504725 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 LOC109504725 Gene

Genomics for LOC109504725 Gene

Genomic Locations for LOC109504725 Gene

Genomic Locations for LOC109504725 Gene
chrX:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109504725 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC109504725 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC109504725 Gene

Proteins for LOC109504725 Gene

Post-translational modifications for LOC109504725 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109504725 Gene

Domains & Families for LOC109504725 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 LOC109504725 Gene

Function for LOC109504725 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 LOC109504725 Gene

Localization for LOC109504725 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 LOC109504725 Gene

Pathways & Interactions for LOC109504725 Gene

PathCards logo

SuperPathways for LOC109504725 Gene

No Data Available

Interacting Proteins for LOC109504725 Gene

Gene Ontology (GO) - Biological Process for LOC109504725 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC109504725 Gene

Drugs & Compounds for LOC109504725 Gene

No Compound Related Data Available

Transcripts for LOC109504725 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109504725 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109504725 Gene

Expression for LOC109504725 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 LOC109504725 Gene

Orthologs for LOC109504725 Gene

No data available for Orthologs and Evolution for LOC109504725 Gene

Paralogs for LOC109504725 Gene

No data available for Paralogs for LOC109504725 Gene

Variants for LOC109504725 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 LOC109504725 Gene

Disorders for LOC109504725 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC109504725 Gene - From: GeneCards

Disorder Aliases PubMed IDs
muscular atrophy
  • amyotrophia
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC109504725: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109504725 Gene

Publications for LOC109504725 Gene

  1. Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy. (PMID: 26875173) Pennuto M … Gozes I (Journal of molecular neuroscience : MN 2016) 3 58
  2. Epigenetics and Triplet-Repeat Neurological Diseases. (PMID: 26733936) Nageshwaran S … Festenstein R (Frontiers in neurology 2015) 3 58
  3. Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat. (PMID: 25047668) Grunseich C … Fischbeck KH (Neuromuscular disorders : NMD 2014) 3 58
  4. CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis. (PMID: 22233359) Bruson A … Soraru G (European journal of neurology 2012) 3 58
  5. Role of the androgen receptor CAG repeat polymorphism in prostate cancer, and spinal and bulbar muscular atrophy. (PMID: 21284948) Kumar R … Jasuja R (Life sciences 2011) 3 58

No data available for External Links for LOC109504725 Gene

Products for LOC109504725 Gene

Sources for LOC109504725 Gene

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