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Aliases for LOC109113861 Gene

Aliases for LOC109113861 Gene

  • FRA2A Repeat Instability Region 3
  • Fragile Site, Folic Acid Type, Rare, Fra(2)(Q11.2) Repeat Instability Region 3
  • AF4/FMR2 Family Member 3 Repeat Instability Region 3
  • AFF3 Repeat Instability Region 3

External Ids for LOC109113861 Gene

Summaries for LOC109113861 Gene

Entrez Gene Summary for LOC109113861 Gene

  • This biological region is found within a region thought to be an alternative promoter of the AF4/FMR2 family member 3 (AFF3) gene on the q arm of chromosome 2. This region is a folate-sensitive fragile site and contains a CGG/CCG trinucleotide repeat. Expansions of this repeat are thought to be associated with intellectual disability. Allelic variation occurs in this region, with repeat sizes of about 3-20 observed in individuals who show no phenotypic consequences. Repeat expansions are associated with CpG hypermethylation and reduced expression of the AFF3 gene product. [provided by RefSeq, Nov 2016]

GeneCards Summary for LOC109113861 Gene

LOC109113861 (FRA2A Repeat Instability Region) is a Biological Region gene.

Additional gene information for LOC109113861 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 LOC109113861 Gene

Genomics for LOC109113861 Gene

Genomic Locations for LOC109113861 Gene

Genomic Locations for LOC109113861 Gene
chr2:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109113861 Gene


Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for LOC109113861 Gene

No data available for GeneHancer (GH) Regulatory Elements for LOC109113861 Gene

Proteins for LOC109113861 Gene

Post-translational modifications for LOC109113861 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109113861 Gene

Domains & Families for LOC109113861 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 LOC109113861 Gene

Function for LOC109113861 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 LOC109113861 Gene

Localization for LOC109113861 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 LOC109113861 Gene

Pathways & Interactions for LOC109113861 Gene

PathCards logo

SuperPathways for LOC109113861 Gene

No Data Available

Interacting Proteins for LOC109113861 Gene

Gene Ontology (GO) - Biological Process for LOC109113861 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC109113861 Gene

Drugs & Compounds for LOC109113861 Gene

No Compound Related Data Available

Transcripts for LOC109113861 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109113861 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109113861 Gene

Expression for LOC109113861 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 LOC109113861 Gene

Orthologs for LOC109113861 Gene

No data available for Orthologs and Evolution for LOC109113861 Gene

Paralogs for LOC109113861 Gene

No data available for Paralogs for LOC109113861 Gene

Variants for LOC109113861 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 LOC109113861 Gene

Disorders for LOC109113861 Gene

No disorders were found for LOC109113861 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109113861 Gene

Publications for LOC109113861 Gene

  1. FRA2A is a CGG repeat expansion associated with silencing of AFF3. (PMID: 24763282) Metsu S … Kooy RF (PLoS genetics 2014) 3 58
  2. Mental retardation with rare fragile site expressed at 2q11. (PMID: 11111064) Tükün A … Bökesoy I (Brain & development 2000) 3 58
  3. Familial fragile secondary constriction on chromosome 2 (2q11) with unusual features and psychomotor retardation. (PMID: 2246023) Murthy DS … al-Awadi SA (Indian journal of pediatrics 1990) 3 58
  4. A fragile secondary constriction on chromosome 2 in five patients with different clinical features. (PMID: 7333874) Annerén G … Gustavson KH (Hereditas 1981) 3 58

No data available for External Links for LOC109113861 Gene

Products for LOC109113861 Gene

Sources for LOC109113861 Gene

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