This genomic region, which is located in an intron of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, can modestly activate a basal CFTR promoter in transfected Caco2 cells. This region also includes a DNase I hypersensitive site, DHS21. [provided by RefSeq, Oct 2018] See more...

Aliases for LOC111674468 Gene

Aliases for LOC111674468 Gene

  • CFTR Intron 21 Enhancer 3
  • DNase I Hypersensitive Site In Intron 21 Of CFTR 3
  • DHS21 3

External Ids for LOC111674468 Gene

Summaries for LOC111674468 Gene

Entrez Gene Summary for LOC111674468 Gene

  • This genomic region, which is located in an intron of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, can modestly activate a basal CFTR promoter in transfected Caco2 cells. This region also includes a DNase I hypersensitive site, DHS21. [provided by RefSeq, Oct 2018]

GeneCards Summary for LOC111674468 Gene

LOC111674468 (CFTR Intron 21 Enhancer) is a Biological Region gene.

Additional gene information for LOC111674468 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 LOC111674468 Gene

Genomics for LOC111674468 Gene

Genomic Locations for LOC111674468 Gene

Genomic Locations for LOC111674468 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC111674468 Gene

RefSeq DNA sequence for LOC111674468 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC111674468 Gene

Proteins for LOC111674468 Gene

Post-translational modifications for LOC111674468 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC111674468 Gene

Domains & Families for LOC111674468 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC111674468 Gene

Function for LOC111674468 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 LOC111674468 Gene

Localization for LOC111674468 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 LOC111674468 Gene

Pathways & Interactions for LOC111674468 Gene

PathCards logo

SuperPathways for LOC111674468 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC111674468 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC111674468 Gene

Drugs & Compounds for LOC111674468 Gene

No Compound Related Data Available

Transcripts for LOC111674468 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC111674468 Gene

No ASD Table

No data available for mRNA/cDNA for LOC111674468 Gene

Expression for LOC111674468 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 LOC111674468 Gene

Orthologs for LOC111674468 Gene

No data available for Orthologs and Evolution for LOC111674468 Gene

Paralogs for LOC111674468 Gene

No data available for Paralogs for LOC111674468 Gene

Variants for LOC111674468 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 LOC111674468 Gene

Disorders for LOC111674468 Gene

No disorders were found for LOC111674468 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC111674468 Gene

Publications for LOC111674468 Gene

  1. Nucleosome mapping across the CFTR locus identifies novel regulatory factors. (PMID: 23325854) Yigit E … Harris A (Nucleic acids research 2013) 3 54
  2. Transcriptional regulation of CFTR gene expression. (PMID: 22201896) Gillen AE … Harris A (Frontiers in bioscience (Elite edition) 2012) 3 54
  3. Intronic enhancers coordinate epithelial-specific looping of the active CFTR locus. (PMID: 19897727) Ott CJ … Harris A (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 54
  4. CFTR expression from a BAC carrying the complete human gene and associated regulatory elements. (PMID: 18657227) Kotzamanis G … Huxley C (Journal of cellular and molecular medicine 2009) 3 54
  5. The CFTR gene and regulation of its expression. (PMID: 15806593) McCarthy VA … Harris A (Pediatric pulmonology 2005) 3 54

No data available for Mastermind for LOC111674468 Gene

Products for LOC111674468 Gene

Sources for LOC111674468 Gene