This genomic region represents a DNase I hypersensitive site, DHS-20.9kb, located approximately 20 kb upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It contains enhancer-blocking elements that bind the CCCTC-binding factor (CTCF) and POU class 2 homeobox 1 (Pou2f1/Oct1) transcription factor. It also associates with the cohesin complex subunit R... See more...

Aliases for LOC111674466 Gene

Aliases for LOC111674466 Gene

  • DNase I Hypersensitive Site -20.9 Kb Upstream Of CFTR 3
  • -20.9 Kb CFTR Enhancer-Blocking Element 3
  • CFTR Looping Element II 3
  • DHS-20.5kb 3
  • DHS-20.9kb 3

External Ids for LOC111674466 Gene

Summaries for LOC111674466 Gene

Entrez Gene Summary for LOC111674466 Gene

  • This genomic region represents a DNase I hypersensitive site, DHS-20.9kb, located approximately 20 kb upstream of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It contains enhancer-blocking elements that bind the CCCTC-binding factor (CTCF) and POU class 2 homeobox 1 (Pou2f1/Oct1) transcription factor. It also associates with the cohesin complex subunit Rad21, and with the transcription factors FOXA1/A2 and HNF1, where recruitment of HNF1 requires FOXA factor presence. This region is a structural element involved in active locus 3D structure, where it can physically interact with the CFTR promoter and other CFTR regulatory elements, including the intron 19 and +48.9 kb elements, and those interactions depend on CTCF and Rad21 presence. Deletion of this region by CRISPR/Cas9 editing results in a redistribution of architectural proteins at other CFTR regulatory sites, mainly at the -80.9 kb, intron 1 and +48.9 kb sites, whereby an active locus 3D structure is maintained. [provided by RefSeq, Nov 2018]

GeneCards Summary for LOC111674466 Gene

LOC111674466 (DNase I Hypersensitive Site -20.9 Kb Upstream Of CFTR) is a Biological Region gene. Diseases associated with LOC111674466 include Cystic Fibrosis.

Additional gene information for LOC111674466 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 LOC111674466 Gene

Genomics for LOC111674466 Gene

Genomic Locations for LOC111674466 Gene

Genomic Locations for LOC111674466 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC111674466 Gene

RefSeq DNA sequence for LOC111674466 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC111674466 Gene

Proteins for LOC111674466 Gene

Post-translational modifications for LOC111674466 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC111674466 Gene

Domains & Families for LOC111674466 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LOC111674466 Gene

Function for LOC111674466 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 LOC111674466 Gene

Localization for LOC111674466 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 LOC111674466 Gene

Pathways & Interactions for LOC111674466 Gene

PathCards logo

SuperPathways for LOC111674466 Gene

No Data Available
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Gene Ontology (GO) - Biological Process for LOC111674466 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for LOC111674466 Gene

Drugs & Compounds for LOC111674466 Gene

No Compound Related Data Available

Transcripts for LOC111674466 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC111674466 Gene

No ASD Table

No data available for mRNA/cDNA for LOC111674466 Gene

Expression for LOC111674466 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 LOC111674466 Gene

Orthologs for LOC111674466 Gene

No data available for Orthologs and Evolution for LOC111674466 Gene

Paralogs for LOC111674466 Gene

No data available for Paralogs for LOC111674466 Gene

Variants for LOC111674466 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 LOC111674466 Gene

Disorders for LOC111674466 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC111674466 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • cf
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with LOC111674466: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC111674466 Gene

Publications for LOC111674466 Gene

  1. Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients. (PMID: 30296588) Kerschner JL … Harris A (The Journal of molecular diagnostics : JMD 2019) 3 54
  2. A transcription factor network represses CFTR gene expression in airway epithelial cells. (PMID: 29572268) Mutolo MJ … Harris A (The Biochemical journal 2018) 3 54
  3. Analysis of long-range interactions in primary human cells identifies cooperative CFTR regulatory elements. (PMID: 26615198) Moisan S … Férec C (Nucleic acids research 2016) 3 54
  4. Differential contribution of cis-regulatory elements to higher order chromatin structure and expression of the CFTR locus. (PMID: 26673704) Yang R … Harris A (Nucleic acids research 2016) 3 54
  5. Invariant TAD Boundaries Constrain Cell-Type-Specific Looping Interactions between Promoters and Distal Elements around the CFTR Locus. (PMID: 26748519) Smith EM … Dekker J (American journal of human genetics 2016) 3 54

No data available for Mastermind for LOC111674466 Gene

Products for LOC111674466 Gene

Sources for LOC111674466 Gene