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Aliases for LOC111674475 Gene

Aliases for LOC111674475 Gene

  • CFTR Intron 11 Enhancer 3
  • CFTR DNase I Hypersensitive Site 11 3
  • CFTR Looping Element III 3
  • CFTR +109 Kb DHS 3
  • DHS11 3
  • E11 3

External Ids for LOC111674475 Gene

Summaries for LOC111674475 Gene

Entrez Gene Summary for LOC111674475 Gene

  • This region represents a DNase I hypersensitive site, DHS11, that corresponds to an intronic intestinal enhancer of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This enhancer can cooperate with other regulatory elements at the CFTR locus, including the DHS1, DHS10a,b and DHS+15.6kb elements, and it physically interacts with the CFTR promoter and other regulatory elements in a larger topologically associating domain (TAD). Activity of this enhancer is positively regulated by binding of HNF1 homeobox, caudal-type homeobox, and forkhead box transcription factors. Functionally significant polymorphisms have been identified within this enhancer. [provided by RefSeq, Nov 2018]

GeneCards Summary for LOC111674475 Gene

LOC111674475 (CFTR Intron 11 Enhancer) is a Biological Region gene. Diseases associated with LOC111674475 include Cystic Fibrosis.

Additional gene information for LOC111674475 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 LOC111674475 Gene

Genomics for LOC111674475 Gene

Genomic Locations for LOC111674475 Gene

Genomic Locations for LOC111674475 Gene
chr7:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC111674475 Gene

RefSeq DNA sequence for LOC111674475 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC111674475 Gene

Proteins for LOC111674475 Gene

Post-translational modifications for LOC111674475 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC111674475 Gene

Domains & Families for LOC111674475 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 LOC111674475 Gene

Function for LOC111674475 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 LOC111674475 Gene

Localization for LOC111674475 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 LOC111674475 Gene

Pathways & Interactions for LOC111674475 Gene

PathCards logo

SuperPathways for LOC111674475 Gene

No Data Available

Interacting Proteins for LOC111674475 Gene

Gene Ontology (GO) - Biological Process for LOC111674475 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC111674475 Gene

Drugs & Compounds for LOC111674475 Gene

No Compound Related Data Available

Transcripts for LOC111674475 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC111674475 Gene

No ASD Table

No data available for mRNA/cDNA for LOC111674475 Gene

Expression for LOC111674475 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 LOC111674475 Gene

Orthologs for LOC111674475 Gene

No data available for Orthologs and Evolution for LOC111674475 Gene

Paralogs for LOC111674475 Gene

No data available for Paralogs for LOC111674475 Gene

Variants for LOC111674475 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 LOC111674475 Gene

Disorders for LOC111674475 Gene

MalaCards: The human disease database

(1) MalaCards diseases for LOC111674475 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 LOC111674475: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for LOC111674475 Gene

Publications for LOC111674475 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 58
  2. A transcription factor network represses CFTR gene expression in airway epithelial cells. (PMID: 29572268) Mutolo MJ … Harris A (The Biochemical journal 2018) 3 58
  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 58
  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 58
  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 58

No data available for External Links for LOC111674475 Gene

Products for LOC111674475 Gene

Sources for LOC111674475 Gene

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