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Description for Protein CYP21A2

cytochrome P450, family 21, subfamily A, polypeptide 2
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(platelet: 11)
Summary:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    1.14.99.10
    KEGG - Orthology:
    K00513
    KEGG - Pathway(s):
    hsa00140; hsa01100
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Cytochrome P450, subfamily XXI; CYP21; Steroid cytochrome P450 21-hydroxylase; P450C21; 21-hydroxylase B; CYP21B; CYP21A1P; CYP21P; CYP21A; Steroid 21-monooxygenase; Steroid 21-hydroxylase
    Approved Symbol:
    CYP21A2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • 21-@hydroxylase polymorphism(Pd);
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency(Pd);
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic type(Pd);
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, late-onset form(Pd);
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, nonclassic type(Pd);
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, salt-wasting type(Pd);
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01942 Entrez Gene ID: 1589 OMIM ID: 201910 Swissprot Accession: Q5ST44; Q16874; Q08AG9;