This region is located in the functional core of a larger super-enhancer that regulates expression of the RUNX1 (runt related transcription factor 1) gene, located greater than 180 kb downstream on chromosome 21. This region was shown to enhance expression of the RUNX1 P1 promoter in transfected DG75 lymphoma cells, with activation dependent on the EBNA2 transcription factor an... See more...

Aliases for LOC109648317 Gene

Aliases for LOC109648317 Gene

  • Enhancer 4 Sub-Fragment Of Super-Enhancer Upstream Of RUNX1 3
  • RUNX1 Super-Enhancer Element E4 3

External Ids for LOC109648317 Gene

Summaries for LOC109648317 Gene

Entrez Gene Summary for LOC109648317 Gene

  • This region is located in the functional core of a larger super-enhancer that regulates expression of the RUNX1 (runt related transcription factor 1) gene, located greater than 180 kb downstream on chromosome 21. This region was shown to enhance expression of the RUNX1 P1 promoter in transfected DG75 lymphoma cells, with activation dependent on the EBNA2 transcription factor and the Notch pathway component RBP-J. Multiple Epstein-Barr virus (EBV) transcription factors target this region for positive or negative regulation of RUNX1 transcription in a cell type-specific manner. [provided by RefSeq, Jul 2018]

GeneCards Summary for LOC109648317 Gene

LOC109648317 (Enhancer 4 Sub-Fragment Of Super-Enhancer Upstream Of RUNX1) is a Biological Region gene.

Additional gene information for LOC109648317 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 LOC109648317 Gene

Genomics for LOC109648317 Gene

Genomic Locations for LOC109648317 Gene

Genomic Locations for LOC109648317 Gene
chr21:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC109648317 Gene

RefSeq DNA sequence for LOC109648317 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC109648317 Gene

Proteins for LOC109648317 Gene

Post-translational modifications for LOC109648317 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC109648317 Gene

Domains & Families for LOC109648317 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC109648317 Gene

Function for LOC109648317 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 LOC109648317 Gene

Localization for LOC109648317 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 LOC109648317 Gene

Pathways & Interactions for LOC109648317 Gene

PathCards logo

SuperPathways for LOC109648317 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC109648317 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC109648317 Gene

Drugs & Compounds for LOC109648317 Gene

No Compound Related Data Available

Transcripts for LOC109648317 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC109648317 Gene

No ASD Table

No data available for mRNA/cDNA for LOC109648317 Gene

Expression for LOC109648317 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 LOC109648317 Gene

Orthologs for LOC109648317 Gene

No data available for Orthologs and Evolution for LOC109648317 Gene

Paralogs for LOC109648317 Gene

No data available for Paralogs for LOC109648317 Gene

Variants for LOC109648317 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 LOC109648317 Gene

Disorders for LOC109648317 Gene

No disorders were found for LOC109648317 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC109648317 Gene

Publications for LOC109648317 Gene

  1. RUNX super-enhancer control through the Notch pathway by Epstein-Barr virus transcription factors regulates B cell growth. (PMID: 26883634) Gunnell A … West MJ (Nucleic acids research 2016) 3 54
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 54

No data available for Mastermind for LOC109648317 Gene

Products for LOC109648317 Gene

Sources for LOC109648317 Gene