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Aliases for LOC110631417 Gene

Aliases for LOC110631417 Gene

  • CYP21A2 5' Regulatory Region 3

External Ids for LOC110631417 Gene

Summaries for LOC110631417 Gene

Entrez Gene Summary for LOC110631417 Gene

  • This region represents the 5' regulatory region of the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene, and includes the proximal promoter as well as more distal enhancer elements located in an intron of the upstream complement C4B gene. This region is stimulated by cyclic AMP and binding of Nr5a1/Sf1 to recognition sites. Naturally-occurring polymorphisms in this sequence were found to influence promoter activity. [provided by RefSeq, Jul 2017]

GeneCards Summary for LOC110631417 Gene

LOC110631417 (CYP21A2 5' Regulatory Region) is a Biological Region gene.

Additional gene information for LOC110631417 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 LOC110631417 Gene

Genomics for LOC110631417 Gene

Genomic Locations for LOC110631417 Gene

Genomic Locations for LOC110631417 Gene
chr6:-
(GRCh38/hg38)
Orientation:
Unknown strand

Genomic View for LOC110631417 Gene

RefSeq DNA sequence for LOC110631417 Gene

No data available for GeneHancer (GH) Regulatory Elements and Cytogenetic band for LOC110631417 Gene

Proteins for LOC110631417 Gene

Post-translational modifications for LOC110631417 Gene

No Post-translational modifications

No data available for DME Specific Peptides for LOC110631417 Gene

Domains & Families for LOC110631417 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 LOC110631417 Gene

Function for LOC110631417 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 LOC110631417 Gene

Localization for LOC110631417 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 LOC110631417 Gene

Pathways & Interactions for LOC110631417 Gene

PathCards logo

SuperPathways for LOC110631417 Gene

No Data Available

Interacting Proteins for LOC110631417 Gene

Gene Ontology (GO) - Biological Process for LOC110631417 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for LOC110631417 Gene

Drugs & Compounds for LOC110631417 Gene

No Compound Related Data Available

Transcripts for LOC110631417 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for LOC110631417 Gene

No ASD Table

No data available for mRNA/cDNA for LOC110631417 Gene

Expression for LOC110631417 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 LOC110631417 Gene

Orthologs for LOC110631417 Gene

No data available for Orthologs and Evolution for LOC110631417 Gene

Paralogs for LOC110631417 Gene

No data available for Paralogs for LOC110631417 Gene

Variants for LOC110631417 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 LOC110631417 Gene

Disorders for LOC110631417 Gene

No disorders were found for LOC110631417 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot , Genatlas and External Links for LOC110631417 Gene

Publications for LOC110631417 Gene

  1. Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency. (PMID: 26184415) Fernández CS … Dain L (Endocrine 2015) 3 58
  2. Vitamin D-mediated regulation of CYP21A2 transcription - a novel mechanism for vitamin D action. (PMID: 22561756) Lundqvist J … Norlin M (Biochimica et biophysica acta 2012) 3 58
  3. Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency. (PMID: 18702679) Zhang HJ … Li XY (Clinical endocrinology 2009) 3 58
  4. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. (PMID: 17666484) Araújo RS … Bachega TA (The Journal of clinical endocrinology and metabolism 2007) 3 58
  5. Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation. (PMID: 15670187) Araujo RS … Bachega TA (Clinical endocrinology 2005) 3 58

No data available for External Links for LOC110631417 Gene

Products for LOC110631417 Gene

Sources for LOC110631417 Gene

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