{ "uniprot_canonical_ac": "P08686-1", "uniprot_ac": "P08686", "uniprot_id": "CP21A_HUMAN", "mass": { "chemical_mass": 56001.0, "monoisotopic_mass": 56001.0 }, "refseq": { "ac": "NP_000491", "name": "steroid 21-hydroxylase isoform a", "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, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" }, "gene_names": [ { "name": "CYP21A2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P08686", "id": "P08686" }, { "name": "CA21H; CAH1; CPS1; CYP21; CYP21B; P450c21B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491", "id": "NP_000491" }, { "name": "CYP21A2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491", "id": "NP_000491" }, { "name": "CYP21B", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08686", "id": "P08686" }, { "name": "CYP21", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P08686", "id": "P08686" } ], "protein_names": [ { "name": "Steroid 21-hydroxylase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P08686" }, { "name": "1.14.14.16", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08686" }, { "name": "21-OHase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08686" }, { "name": "Cytochrome P-450c21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08686" }, { "name": "Cytochrome P450 21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08686" }, { "name": "Cytochrome P450 XXI", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08686" }, { "name": "Cytochrome P450-C21B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08686" }, { "name": "Cytochrome P450-C21", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P08686" }, { "name": "steroid 21-hydroxylase isoform a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491", "id": "NP_000491" }, { "name": "steroid 21-monooxygenase; cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2; cytochrome P450, family 21, subfamily A, polypeptide 2; 21-OHase; cytochrome P450 XXI; cytochrome P450-C21B; steroid 21 hydroxylase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491", "id": "NP_000491" } ], "function": [ { "annotation": "A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:25855791, PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:27721825). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25855791).", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686#function" }, { "database": "PubMed", "id": "27721825", "url": "https://glygen.org/publication/PubMed/27721825" }, { "database": "PubMed", "id": "16984992", "url": "https://glygen.org/publication/PubMed/16984992" }, { "database": "PubMed", "id": "22014889", "url": "https://glygen.org/publication/PubMed/22014889" }, { "database": "PubMed", "id": "10602386", "url": "https://glygen.org/publication/PubMed/10602386" }, { "database": "PubMed", "id": "25855791", "url": "https://glygen.org/publication/PubMed/25855791" } ] }, { "annotation": "Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" }, { "database": "PubMed", "id": "36259452", "url": "https://glygen.org/publication/PubMed/36259452" } ] }, { "annotation": "Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" }, { "database": "PubMed", "id": "37553728", "url": "https://glygen.org/publication/PubMed/37553728" } ] }, { "annotation": "The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" }, { "database": "PubMed", "id": "37324257", "url": "https://glygen.org/publication/PubMed/37324257" } ] }, { "annotation": "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, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" } ] } ], "disease": [ { "disease_id": "DOID:0050811", "recommended_name": { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "congenital adrenal hyperplasia", "description": "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency." }, "synonyms": [ { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "adrenal hyperplasia 1", "description": "" }, { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "congenital lipoid adrenal hyperplasia", "description": "" }, { "id": "DOID:0050811", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050811", "name": "lipoid CAH", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency", "description": "A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension." }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-alpha-hydroxylase/17,20-lyase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "CAH due to 17-alpha-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "combined 17-hydroxylase/17,20-lyase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17,20-lyase deficiency, isolated", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-Alpha-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "adrenal hyperplasia 5", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency", "description": "" }, { "id": "MONDO:0008730", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008730", "name": "congenital adrenal hyperplasia type 5", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "description": "The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia." }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "21-OHD", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "classic 21-OHD CAH", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "21 hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "CYP21 deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "adrenal hyperplasia 3", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "congenital adrenal hyperplasia 1", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "congenital adrenal hyperplasia due to 21-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008728", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008728", "name": "hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "congenital lipoid adrenal hyperplasia due to STAR deficency", "description": "Congenital lipoid adrenal hyperplasia (CLAH) is one of the most severe forms of congenital adrenal hyperplasia (CAH) characterized by severe adrenal insufficiency and sex reversal in males." }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "CLAH", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "lipoid adrenal hyperplasia", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "LCAH", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "adrenal hyperplasia 1", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "congenital adrenal hyperplasia lipoid", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "lipoid congenital adrenal hyperplasia", "description": "" }, { "id": "MONDO:0008725", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008725", "name": "lipoid hyperplasia, congenital, of adrenal cortex with Male pseudohermaphroditism", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency", "description": "Congenital adrenal hyperplasia due to 11 beta-hydroxylase (CYP11B1) deficiency is a rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females." }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "CAH due to 11-beta-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "CYP11B1 deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "11-Beta-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "P450C11B1 deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia 4", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia IV", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia hypertensive form", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia, congenital, due to steroid 11-BETA-HYDROXYLASE deficiency", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "adrenal hyperplasia, hypertensive form", "description": "" }, { "id": "MONDO:0008729", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008729", "name": "steroid 11-Beta-Hydroxylase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency", "description": "Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare form of congenital adrenal hyperplasia (CAH) encompassing salt-wasting and non-salt wasting forms with a wide variety of symptoms, including glucocorticoid deficiency and male undervirilization manifesting as a micropenis to severe perineoscrotal hypospadias." }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-beta HSD deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-BETA-hydroxysteroid dehydrogenase, type II, deficiency OF", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-Beta-HSD deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3-Beta-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "3b-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "HSD3B deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia 2", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia II", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia, congenital, due to 3-BETA-hydroxysteroid dehydrogenase 2 deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "adrenal hyperplasia, congenital, due to 3-Beta-hydroxysteroid dehydrogenase 2 deficiency", "description": "" }, { "id": "MONDO:0008727", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008727", "name": "type II 3-beta-hydroxysteroid dehydrogenase deficiency", "description": "" }, { "id": "MIM:202110", "resource": "MIM", "url": "https://www.omim.org/entry/202110", "name": "Adrenal hyperplasia 5", "description": "Adrenal hyperplasia 5" }, { "id": "MIM:201910", "resource": "MIM", "url": "https://www.omim.org/entry/201910", "name": "Adrenal hyperplasia 3", "description": "Adrenal hyperplasia 3" }, { "id": "MIM:201710", "resource": "MIM", "url": "https://www.omim.org/entry/201710", "name": "Adrenal hyperplasia 1", "description": "Adrenal hyperplasia 1" }, { "id": "MIM:202010", "resource": "MIM", "url": "https://www.omim.org/entry/202010", "name": "Adrenal hyperplasia 4", "description": "Adrenal hyperplasia 4" }, { "id": "MIM:201810", "resource": "MIM", "url": "https://www.omim.org/entry/201810", "name": "Adrenal hyperplasia 2", "description": "Adrenal hyperplasia 2" } ], "evidence": [ { "id": "201910", "database": "MIM", "url": "https://www.omim.org/entry/201910" } ] } ], "snv": [], "mutagenesis": [ { "start_pos": 269, "end_pos": 269, "sequence_org": "S", "sequence_mut": "C", "comment": "No effect on progesterone 21-hydroxylase activity.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "start_pos": 269, "end_pos": 269, "sequence_org": "S", "sequence_mut": "M", "comment": "No effect on progesterone 21-hydroxylase activity.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "start_pos": 269, "end_pos": 269, "sequence_org": "S", "sequence_mut": "T", "comment": "No effect on progesterone 21-hydroxylase activity.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "start_pos": 282, "end_pos": 282, "sequence_org": "V", "sequence_mut": "I", "comment": "Decreased 21-hydroxylase activity. Normal KM but 50% reduced Vmax.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "start_pos": 282, "end_pos": 282, "sequence_org": "V", "sequence_mut": "T", "comment": "Decreased 21-hydroxylase activity. Normal KM but 10% reduced Vmax.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "start_pos": 429, "end_pos": 429, "sequence_org": "C", "sequence_mut": "M", "comment": "Loss of progesterone 21-hydroxylase activity and loss of P450 absorption.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "start_pos": 429, "end_pos": 429, "sequence_org": "C", "sequence_mut": "S", "comment": "Loss of progesterone 21-hydroxylase activity and loss of P450 absorption.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "start_pos": 429, "end_pos": 429, "sequence_org": "C", "sequence_mut": "T", "comment": "Loss of progesterone 21-hydroxylase activity and loss of P450 absorption.", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.76", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000231852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231852" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "45.48", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000231852", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000231852" 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P08686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08686" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08686" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P08686", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P08686" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000436607.6", "url": "https://www.ensembl.org/id/ENST00000436607.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000403721.2", "url": "https://www.ensembl.org/id/ENSP00000403721.2" } ] } }, { "isoform_ac": "P08686-2", "url": "", "sequence": { "sequence": "MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDKLVSRNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ", "length": 465, "header": "sp|P08686-2|CP21A_HUMAN Isoform 2 of Steroid 21-hydroxylase OS=Homo sapiens OX=9606 GN=CYP21A2 PE=1 SV=2 CANONICAL=P08686-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [ "enzyme" ], "publication": [ { "title": "Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.", "journal": "Journal of medical genetics", "date": "1999", "authors": "Lako M, Ramsden S, Campbell RD, Strachan T", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10051010", "url": "https://glygen.org/publication/PubMed/10051010" } ] }, { "title": "Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.", "journal": "Human mutation", "date": "1999", "authors": "Witchel SF, Smith R, Suda-Hartman M", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10094562", "url": "https://glygen.org/publication/PubMed/10094562" } ] }, { "title": "Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Lajic S, Nikoshkov A, Holst M, Wedell A", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10198222", "url": "https://glygen.org/publication/PubMed/10198222" } ] }, { "title": "Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.", "journal": "Human heredity", "date": "1999", "authors": "Lobato MN, Ordonez-Sanchez ML, Tusie-Luna MT, Meseguer A", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10364682", "url": "https://glygen.org/publication/PubMed/10364682" } ] }, { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nature genetics", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.", "journal": "Human mutation", "date": "1999", "authors": "Ohlsson G, Muller J, Skakkebaek NE, Schwartz M", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10408778", "url": "https://glygen.org/publication/PubMed/10408778" } ] }, { "title": "A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia. Mutations in brief no. 247. Online.", "journal": "Human mutation", "date": "1999", "authors": "Kapelari K, Ghanaati Z, Wollmann H, Ventz M, Ranke MB, Kofler R, Peters H", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10408786", "url": "https://glygen.org/publication/PubMed/10408786" } ] }, { "title": "A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1999", "authors": "Billerbeck AE, Bachega TA, Frazatto ET, Nishi MY, Goldberg AC, Marin ML, Madureira G, Monte O, Arnhold IJ, Mendonca BB", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10443693", "url": "https://glygen.org/publication/PubMed/10443693" } ] }, { "title": "Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.", "journal": "Journal of human genetics", "date": "1999", "authors": "Asanuma A, Ohura T, Ogawa E, Sato S, Igarashi Y, Matsubara Y, Iinuma K", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10496074", "url": "https://glygen.org/publication/PubMed/10496074" } ] }, { "title": "Structure and functions of human oxysterol 7alpha-hydroxylase cDNAs and gene CYP7B1.", "journal": "Journal of lipid research", "date": "1999", "authors": "Wu Z, Martin KO, Javitt NB, Chiang JY", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "10588945", "url": "https://glygen.org/publication/PubMed/10588945" } ] }, { "title": "Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice.", "journal": "Gene therapy", "date": "1999-11", "authors": "Tajima T, Okada T, Ma X M, Ramsey W, Bornstein S, Aguilera G", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10602386", "url": "https://glygen.org/publication/PubMed/10602386" } ] }, { "title": "Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2000", "authors": "Krone N, Braun A, Roscher AA, Knorr D, Schwarz HP", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "10720040", "url": "https://glygen.org/publication/PubMed/10720040" } ] }, { "title": "Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y, Kuttenn F", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "11232002", "url": "https://glygen.org/publication/PubMed/11232002" } ] }, { "title": "Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol.", "journal": "Metabolism: clinical and experimental", "date": "2001", "authors": "Badawi AF, Cavalieri EL, Rogan EG", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "11555828", "url": "https://glygen.org/publication/PubMed/11555828" } ] }, { "title": "Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.", "journal": "Hormone research", "date": "2001", "authors": "Loke KY, Lee YS, Lee WW, Poh LK", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "11598371", "url": "https://glygen.org/publication/PubMed/11598371" } ] }, { "title": "Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2001", "authors": "Baumgartner-Parzer SM, Schulze E, Waldhausl W, Pauschenwein S, Rondot S, Nowotny P, Meyer K, Frisch H, Waldhauser F, Vierhapper H", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "11600539", "url": "https://glygen.org/publication/PubMed/11600539" } ] }, { "title": "Novel mutations in the human CYP21 gene.", "journal": "Prenatal diagnosis", "date": "2001", "authors": "Levo A, Partanen J", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "11746135", "url": "https://glygen.org/publication/PubMed/11746135" } ] }, { "title": "Novel mutations in CYP21 detected in individuals with hyperandrogenism.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Lajic S, Clauin S, Robins T, Vexiau P, Blanche H, Bellanne-Chantelot C, Wedell A", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "12050257", "url": "https://glygen.org/publication/PubMed/12050257" } ] }, { "title": "Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2002", "authors": "Billerbeck AE, Mendonca BB, Pinto EM, Madureira G, Arnhold IJ, Bachega TA", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "12213891", "url": "https://glygen.org/publication/PubMed/12213891" } ] }, { "title": "Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.", "journal": "Acta paediatrica (Oslo, Norway : 1992)", "date": "2002", "authors": "Ezquieta B, Cueva E, Varela J, Oliver A, Fernandez J, Jariego C", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "12222711", "url": "https://glygen.org/publication/PubMed/12222711" } ] }, { "title": "Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2003", "authors": "Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fekete C, Morel Y, Brauner R", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "12788866", "url": "https://glygen.org/publication/PubMed/12788866" } ] }, { "title": "Structure/function relationships responsible for coenzyme specificity and the isomerase activity of human type 1 3 beta-hydroxysteroid dehydrogenase/isomerase.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Thomas JL, Duax WL, Addlagatta A, Brandt S, Fuller RR, Norris W", "evidence": [ { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "12832414", "url": "https://glygen.org/publication/PubMed/12832414" } ] }, { "title": "Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.", "journal": "European journal of endocrinology", "date": "2003", "authors": "Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "12887291", "url": "https://glygen.org/publication/PubMed/12887291" } ] }, { "title": "CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2003", "authors": "Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "12915679", "url": "https://glygen.org/publication/PubMed/12915679" } ] }, { "title": "Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1992", "authors": "Owerbach D, Sherman L, Ballard AL, Azziz R", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "1406699", "url": "https://glygen.org/publication/PubMed/1406699" } ] }, { "title": "R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1992", "authors": "Helmberg A, Tusie-Luna MT, Tabarelli M, Kofler R, White PC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "1406709", "url": "https://glygen.org/publication/PubMed/1406709" } ] }, { "title": "Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.", "journal": "Genome Res.", "date": "2003", "authors": "Xie T, Rowen L, Aguado B, Ahearn ME, Madan A, Qin S, Campbell RD, Hood L", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "14656967", "url": "https://glygen.org/publication/PubMed/14656967" } ] }, { "title": "Three novel mutations in Japanese patients with 21-hydroxylase deficiency.", "journal": "Hormone research", "date": "2004", "authors": "Usui T, Nishisho K, Kaji M, Ikuno N, Yorifuji T, Yasuda T, Kuzuya H, Shimatsu A", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "14676460", "url": "https://glygen.org/publication/PubMed/14676460" } ] }, { "title": "Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refai M, Morel Y, Chaabouni H", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "14715874", "url": "https://glygen.org/publication/PubMed/14715874" } ] }, { "title": "Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Wedell A, Ritzen EM, Haglund-Stengler B, Luthman H", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "Reactome", "id": "R-HSA-5579021", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579021" } ], "reference": [ { "type": "PubMed", "id": "1496017", "url": "https://glygen.org/publication/PubMed/1496017" } ] }, { "title": "Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.", "journal": "American journal of human genetics", "date": "2004", "authors": "Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "15042513", "url": "https://glygen.org/publication/PubMed/15042513" } ] }, { "title": "Detection and assignment of CYP21 mutations using peptide mass signature genotyping.", "journal": "Molecular genetics and metabolism", "date": "2004", "authors": "Zeng X, Witchel SF, Dobrowolski SF, Moulder PV, Jarvik JW, Telmer CA", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "15110320", "url": "https://glygen.org/publication/PubMed/15110320" } ] }, { "title": "Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2004", "authors": "Barbaro M, Lajic S, Baldazzi L, Balsamo A, Pirazzoli P, Cicognani A, Wedell A, Cacciari E", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "15126570", "url": "https://glygen.org/publication/PubMed/15126570" } ] }, { "title": "Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Robins T, Barbaro M, Lajic S, Wedell A", "evidence": [ { "database": "Reactome", "id": "R-HSA-5579021", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579021" } ], "reference": [ { "type": "PubMed", "id": "15623806", "url": "https://glygen.org/publication/PubMed/15623806" } ] }, { "title": "21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2005", "authors": "Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "16046588", "url": "https://glygen.org/publication/PubMed/16046588" } ] }, { "title": "Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.", "journal": "The Journal of clinical investigation", "date": "1992", "authors": "Speiser PW, Dupont J, Zhu D, Serrat J, Buegeleisen M, Tusie-Luna MT, Lesser M, New MI, White PC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "1644925", "url": "https://glygen.org/publication/PubMed/1644925" } ] }, { "title": "Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2006", "authors": "Grischuk Y, Rubtsov P, Riepe FG, Grotzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "16984992", "url": "https://glygen.org/publication/PubMed/16984992" } ] }, { "title": "Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Cali JJ, Russell DW", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "1708392", "url": "https://glygen.org/publication/PubMed/1708392" } ] }, { "title": "Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1992", "authors": "Kawamoto T, Mitsuuchi Y, Toda K, Yokoyama Y, Miyahara K, Miura S, Ohnishi T, Ichikawa Y, Nakao K, Imura H, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "1741400", "url": "https://glygen.org/publication/PubMed/1741400" } ] }, { "title": "p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2008", "authors": "Menassa R, Tardy V, Despert F, Bouvattier-Morel C, Brossier JP, Cartigny M, Morel Y", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "18319307", "url": "https://glygen.org/publication/PubMed/18319307" } ] }, { "title": "Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2008", "authors": "Soardi FC, Barbaro M, Lau IF, Lemos-Marini SH, Baptista MT, Guerra-Junior G, Wedell A, Lajic S, de Mello MP", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "18381579", "url": "https://glygen.org/publication/PubMed/18381579" } ] }, { "title": "Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2008", "authors": "Riepe FG, Hiort O, Grotzinger J, Sippell WG, Krone N, Holterhus PM", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "18445671", "url": "https://glygen.org/publication/PubMed/18445671" } ] }, { "title": "Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.", "journal": "The Journal of clinical investigation", "date": "1991", "authors": "Wu DA, Chung BC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "1864962", "url": "https://glygen.org/publication/PubMed/1864962" } ] }, { "title": "The human gene for 11 beta-hydroxysteroid dehydrogenase. Structure, tissue distribution, and chromosomal localization.", "journal": "The Journal of biological chemistry", "date": "1991", "authors": "Tannin GM, Agarwal AK, Monder C, New MI, White PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "1885595", "url": "https://glygen.org/publication/PubMed/1885595" } ] }, { "title": "Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.", "journal": "Human genetics", "date": "1991", "authors": "Partanen J, Campbell RD", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "1937474", "url": "https://glygen.org/publication/PubMed/1937474" } ] }, { "title": "Structure and expression of a new complementary DNA encoding the almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase in human adrenals and gonads.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1991", "authors": "Rheaume E, Lachance Y, Zhao HF, Breton N, Dumont M, de Launoit Y, Trudel C, Luu-The V, Simard J, Labrie F", "evidence": [ { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "1944309", "url": "https://glygen.org/publication/PubMed/1944309" } ] }, { "title": "Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.", "journal": "Mol. Immunol.", "date": "2009", "authors": "Blask\u00f3 Bernadett, B\u00e1nlaki Zs\u00f3fia, Gyapay Gabor, Pozsonyi Eva, Sasv\u00e1ri-Sz\u00e9kely M\u00e1ria, Rajczy Katalin, F\u00fcst George, Szil\u00e1gyi Agnes", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "19505723", "url": "https://glygen.org/publication/PubMed/19505723" } ] }, { "title": "Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase.", "journal": "Drug metabolism and disposition: the biological fate of chemicals", "date": "2009", "authors": "Nakano M, Kelly EJ, Rettie AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "19661213", "url": "https://glygen.org/publication/PubMed/19661213" } ] }, { "title": "Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "2010", "authors": "Tardy V, Menassa R, Sulmont V, Lienhardt-Roussie A, Lecointre C, Brauner R, David M, Morel Y", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "20080860", "url": "https://glygen.org/publication/PubMed/20080860" } ] }, { "title": "Structural basis of human CYP51 inhibition by antifungal azoles.", "journal": "Journal of molecular biology", "date": "2010", "authors": "Strushkevich N, Usanov SA, Park HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "20149798", "url": "https://glygen.org/publication/PubMed/20149798" } ] }, { "title": "A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.", "journal": "Molecular endocrinology (Baltimore, Md.)", "date": "1991", "authors": "Tusie-Luna MT, Speiser PW, Dumic M, New MI, White PC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "2072928", "url": "https://glygen.org/publication/PubMed/2072928" } ] }, { "title": "A large view of CYP21 locus among Sicilians and other populations: identification of a novel CYP21A2 variant in Sicily.", "journal": "Journal of endocrinological investigation", "date": "2011", "authors": "Niceta M, Bono M, Fabiano C, Pojero F, Niceta F, Sammarco P, Corsello G, Garofalo P", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "21169732", "url": "https://glygen.org/publication/PubMed/21169732" } ] }, { "title": "Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Strushkevich N, MacKenzie F, Cherkesova T, Grabovec I, Usanov S, Park HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "21636783", "url": "https://glygen.org/publication/PubMed/21636783" } ] }, { "title": "p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.", "journal": "Metabolism: clinical and experimental", "date": "2012", "authors": "Concolino P, Mello E, Patrosso MC, Penco S, Zuppi C, Capoluongo E", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "22014889", "url": "https://glygen.org/publication/PubMed/22014889" } ] }, { "title": "Characterization of human 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase gene and its expression in mammalian cells.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Lachance Y, Luu-The V, Labrie C, Simard J, Dumont M, de Launoit Y, Guerin S, Leblanc G, Labrie F", "evidence": [ { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "2243100", "url": "https://glygen.org/publication/PubMed/2243100" } ] }, { "title": "Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism.", "journal": "Biochemical and biophysical research communications", "date": "1990", "authors": "Kawainoto T, Mitsuuchi Y, Ohnishi T, Ichikawa Y, Yokoyama Y, Sumimoto H, Toda K, Miyahara K, Kuribayashi I, Nakao K, et al.", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "2256920", "url": "https://glygen.org/publication/PubMed/2256920" } ] }, { "title": "CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of omega-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant.", "journal": "Molecular pharmacology", "date": "2012", "authors": "Nakano M, Kelly EJ, Wiek C, Hanenberg H, Rettie AE", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "22772592", "url": "https://glygen.org/publication/PubMed/22772592" } ] }, { "title": "A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.", "journal": "The Journal of biological chemistry", "date": "1990", "authors": "Chiou SH, Hu MC, Chung BC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "2303461", "url": "https://glygen.org/publication/PubMed/2303461" } ] }, { "title": "Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.", "journal": "Genome Biol. Evol.", "date": "2013", "authors": "B\u00e1nlaki Zs\u00f3fia, Szab\u00f3 Julianna Anna, Szil\u00e1gyi \u00c1gnes, Pat\u00f3cs Attila, Proh\u00e1szka Zolt\u00e1n, F\u00fcst George, Doleschall M\u00e1rton", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "23241443", "url": "https://glygen.org/publication/PubMed/23241443" } ] }, { "title": "Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.", "journal": "PLoS ONE", "date": "2013", "authors": "Szab\u00f3 Julianna Anna, Szil\u00e1gyi \u00c1gnes, Doleschall Zolt\u00e1n, Pat\u00f3cs Attila, Farkas Henriette, Proh\u00e1szka Zolt\u00e1n, R\u00e1cz K\u00e1rioly, F\u00fcst George, Doleschall M\u00e1rton", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "24312389", "url": "https://glygen.org/publication/PubMed/24312389" } ] }, { "title": "Human Cytochrome P450 21A2, the Major Steroid 21-Hydroxylase: STRUCTURE OF THE ENZYME.PROGESTERONE SUBSTRATE COMPLEX AND RATE-LIMITING C-H BOND CLEAVAGE.", "journal": "The Journal of biological chemistry", "date": "2015", "authors": "Pallan PS, Wang C, Lei L, Yoshimoto FK, Auchus RJ, Waterman MR, Guengerich FP, Egli M", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "25855791", "url": "https://glygen.org/publication/PubMed/25855791" } ] }, { "title": "Characterization of two genes encoding human steroid 11 beta-hydroxylase (P-450(11) beta).", "journal": "The Journal of biological chemistry", "date": "1989", "authors": "Mornet E, Dupont J, Vitek A, White PC", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "2592361", "url": "https://glygen.org/publication/PubMed/2592361" } ] }, { "title": "Human placental 3 beta-hydroxy-5-ene-steroid dehydrogenase and steroid 5----4-ene-isomerase: purification from mitochondria and kinetic profiles, biophysical characterization of the purified mitochondrial and microsomal enzymes.", "journal": "Journal of steroid biochemistry", "date": "1989", "authors": "Thomas JL, Myers RP, Strickler RC", "evidence": [ { "database": "Reactome", "id": "R-HSA-193993", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993" } ], "reference": [ { "type": "PubMed", "id": "2770297", "url": "https://glygen.org/publication/PubMed/2770297" } ] }, { "title": "Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects.", "journal": "International journal of endocrinology", "date": "2016", "authors": "de Paula Michelatto D, Karlsson L, Lusa AL, Silva CD, Ostberg LJ, Persson B, Guerra-Junior G, de Lemos-Marini SH, Barbaro M, de Mello MP, Lajic S", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "27721825", "url": "https://glygen.org/publication/PubMed/27721825" } ] }, { "title": "A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.", "journal": "Eur. J. Hum. Genet.", "date": "2017", "authors": "Doleschall M\u00e1rton, Luczay Andrea, Koncz Kl\u00e1ra, Hadzsiev Kinga, Erhardt \u00c9va, Szil\u00e1gyi \u00c1gnes, Doleschall Zolt\u00e1n, N\u00e9meth Krisztina, T\u00f6r\u00f6k D\u00f3ra, Proh\u00e1szka Zolt\u00e1n, Gereben Bal\u00e1zs, Fekete Gy\u00f6rgy, Gl\u00e1z Edit, Igaz P\u00e9ter, Korbonits M\u00e1rta, T\u00f3th Mikl\u00f3s, R\u00e1cz K\u00e1roly, Pat\u00f3cs Attila", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "28401898", "url": "https://glygen.org/publication/PubMed/28401898" } ] }, { "title": "Mineralocorticoid activity of liquorice: 11-beta-hydroxysteroid dehydrogenase deficiency comes of age.", "journal": "Lancet (London, England)", "date": "1987", "authors": "Stewart PM, Wallace AM, Valentino R, Burt D, Shackleton CH, Edwards CR", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "2889032", "url": "https://glygen.org/publication/PubMed/2889032" } ] }, { "title": "Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21\u2011hydroxylase deficiency in a Chinese pedigree.", "journal": "Molecular medicine reports", "date": "2018-03", "authors": "Liu Jia, Zhang Xiujuan, Zhang Haiqing, Fang Li, Xu Jin, Guan Qingbo, Xu Chao", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "29328376", "url": "https://glygen.org/publication/PubMed/29328376" } ] }, { "title": "Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1986", "authors": "Chung BC, Matteson KJ, Voutilainen R, Mohandas TK, Miller WL", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "3024157", "url": "https://glygen.org/publication/PubMed/3024157" } ] }, { "title": "Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.", "journal": "The EMBO journal", "date": "1987", "authors": "Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "3038528", "url": "https://glygen.org/publication/PubMed/3038528" } ] }, { "title": "Mutation in the CYP21B gene (Ile-172----Asn) causes steroid 21-hydroxylase deficiency.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1988", "authors": "Amor M, Parker KL, Globerman H, New MI, White PC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "3257825", "url": "https://glygen.org/publication/PubMed/3257825" } ] }, { "title": "Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.", "journal": "The New England journal of medicine", "date": "1988", "authors": "Speiser PW, New MI, White PC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "3260007", "url": "https://glygen.org/publication/PubMed/3260007" } ] }, { "title": "Nonsense mutation causing steroid 21-hydroxylase deficiency.", "journal": "The Journal of clinical investigation", "date": "1988", "authors": "Globerman H, Amor M, Parker KL, New MI, White PC", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "Reactome", "id": "R-HSA-5579021", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579021" } ], "reference": [ { "type": "PubMed", "id": "3267225", "url": "https://glygen.org/publication/PubMed/3267225" } ] }, { "title": "Primary structure of human corticosteroid binding globulin, deduced from hepatic and pulmonary cDNAs, exhibits homology with serine protease inhibitors.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Hammond GL, Smith CL, Goping IS, Underhill DA, Harley MJ, Reventos J, Musto NA, Gunsalus GL, Bardin CW", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "3299377", "url": "https://glygen.org/publication/PubMed/3299377" } ] }, { "title": "Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "Higashi Y, Yoshioka H, Yamane M, Gotoh O, Fujii-Kuriyama Y", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "3486422", "url": "https://glygen.org/publication/PubMed/3486422" } ] }, { "title": "Structure of human steroid 21-hydroxylase genes.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1986", "authors": "White PC, New MI, Dupont B", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "3487786", "url": "https://glygen.org/publication/PubMed/3487786" } ] }, { "title": "P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1987", "authors": "Matteson KJ, Phillips JA 3rd, Miller WL, Chung BC, Orlando PJ, Frisch H, Ferrandez A, Burr IM", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "3497399", "url": "https://glygen.org/publication/PubMed/3497399" } ] }, { "title": "Congenital adrenal hyperplasia with a CYP21A2 deletion overlapping the tenascin-X gene: an atypical presentation.", "journal": "Journal of pediatric endocrinology & metabolism : JPEM", "date": "2022-10-20", "authors": "Ivo Catarina Rodrigues, Fitas Ana Laura, Madureira In\u00eas, Diamantino Catarina, Gomes Susana, Gon\u00e7alves Jo\u00e3o, Lopes Lurdes", "evidence": [ { "database": "RefSeq", "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" } ], "reference": [ { "type": "PubMed", "id": "36259452", "url": "https://glygen.org/publication/PubMed/36259452" } ] }, { "title": "The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.", "journal": "Frontiers in endocrinology", "date": "2023", "authors": "Fanis Pavlos, Skordis Nicos, Toumba Meropi, Picolos Michalis, Tanteles George A, Neocleous Vassos, Phylactou Leonidas A", "evidence": [ { "database": "RefSeq", "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" } ], "reference": [ { "type": "PubMed", "id": "37324257", "url": "https://glygen.org/publication/PubMed/37324257" } ] }, { "title": "Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.", "journal": "European journal of endocrinology", "date": "2023-08-02", "authors": "Lundtoft Christian, Eriksson Daniel, Bianchi Matteo, Aranda-Guill\u00e9n Maribel, Landegren Nils, Rantap\u00e4\u00e4-Dahlqvist Solbritt, S\u00f6derkvist Peter, Meadows Jennifer R S, , , , Bensing Sophie, Pielberg Gerli Rosengren, Lindblad-Toh Kerstin, R\u00f6nnblom Lars, K\u00e4mpe Olle", "evidence": [ { "database": "RefSeq", "id": "NP_000491", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000491" } ], "reference": [ { "type": "PubMed", "id": "37553728", "url": "https://glygen.org/publication/PubMed/37553728" } ] }, { "title": "Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1985", "authors": "Carroll MC, Campbell RD, Porter RR", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "3871526", "url": "https://glygen.org/publication/PubMed/3871526" } ] }, { "title": "Transport of steroid hormones: binding of 21 endogenous steroids to both testosterone-binding globulin and corticosteroid-binding globulin in human plasma.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1981", "authors": "Dunn JF, Nisula BC, Rodbard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-194002", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002" } ], "reference": [ { "type": "PubMed", "id": "7195404", "url": "https://glygen.org/publication/PubMed/7195404" } ] }, { "title": "Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.", "journal": "Human mutation", "date": "1995", "authors": "Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boue J, Simon-Bouy B, Serre JL, Mornet E", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "7749410", "url": "https://glygen.org/publication/PubMed/7749410" } ] }, { "title": "Mutations in steroid 21-hydroxylase (CYP21).", "journal": "Hum. Mutat.", "date": "1994", "authors": "White P C, Tusie-Luna M T, New M I, Speiser P W", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "8081391", "url": "https://glygen.org/publication/PubMed/8081391" } ] }, { "title": "Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.", "journal": "Human genetics", "date": "1993", "authors": "Wedell A, Luthman H", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "8478006", "url": "https://glygen.org/publication/PubMed/8478006" } ] }, { "title": "A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.", "journal": "Nature genetics", "date": "1993", "authors": "Collier S, Tassabehji M, Sinnott P, Strachan T", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "8485582", "url": "https://glygen.org/publication/PubMed/8485582" } ] }, { "title": "Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations.", "journal": "Human molecular genetics", "date": "1993", "authors": "Wedell A, Luthman H", "evidence": [ { "database": "Reactome", "id": "R-HSA-5579021", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579021" } ], "reference": [ { "type": "PubMed", "id": "8518786", "url": "https://glygen.org/publication/PubMed/8518786" } ] }, { "title": "The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols.", "journal": "Archives of biochemistry and biophysics", "date": "1996", "authors": "Stromstedt M, Rozman D, Waterman MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "8619637", "url": "https://glygen.org/publication/PubMed/8619637" } ] }, { "title": "Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.", "journal": "The Journal of clinical endocrinology and metabolism", "date": "1997", "authors": "Nikoshkov A, Lajic S, Holst M, Wedell A, Luthman H", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "8989258", "url": "https://glygen.org/publication/PubMed/8989258" } ] }, { "title": "E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.", "journal": "Human mutation", "date": "1997", "authors": "Kirby-Keyser L, Porter CC, Donohoue PA", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" }, { "database": "Reactome", "id": "R-HSA-5579021", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579021" } ], "reference": [ { "type": "PubMed", "id": "9067760", "url": "https://glygen.org/publication/PubMed/9067760" } ] }, { "title": "A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.", "journal": "Human genetics", "date": "1997", "authors": "Lajic S, Levo A, Nikoshkov A, Lundberg Y, Partanen J, Wedell A", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "9187661", "url": "https://glygen.org/publication/PubMed/9187661" } ] }, { "title": "Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Nikoshkov A, Lajic S, Vlamis-Gardikas A, Tranebjaerg L, Holst M, Wedell A, Luthman H", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "reference": [ { "type": "PubMed", "id": "9497336", "url": "https://glygen.org/publication/PubMed/9497336" } ] }, { "title": "A critical review of the origin and control of adrenal androgens.", "journal": "Bailliere's clinical obstetrics and gynaecology", "date": "1997", "authors": "McKenna TJ, Fearon U, Clarke D, Cunningham SK", "evidence": [ { "database": "Reactome", "id": "R-HSA-211976", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976" } ], "reference": [ { "type": "PubMed", "id": "9536209", "url": "https://glygen.org/publication/PubMed/9536209" } ] }, { "title": "Expression of catalytically active human cytochrome p450scc in Escherichia coli and mutagenesis of isoleucine-462.", "journal": "Archives of biochemistry and biophysics", "date": "1998", "authors": "Woods ST, Sadleir J, Downs 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"https://glygen.org/publication/PubMed/9580109" } ] } ], "pathway": [ { "id": "hsa:1589", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1589", "resource": "KEGG Pathway" }, { "id": "R-HSA-193993", "name": "Mineralocorticoid biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193993", "resource": "Reactome", "description": "Mineralocorticoid biosynthesis" }, { "id": "R-HSA-194002", "name": "Glucocorticoid biosynthesis", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-194002", "resource": "Reactome", "description": "Glucocorticoid biosynthesis" }, { "id": "R-HSA-211976", "name": "Endogenous sterols", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-211976", "resource": "Reactome", "description": "Endogenous sterols" }, { "id": "R-HSA-5579021", "name": "Defective CYP21A2 causes AH3", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5579021", "resource": "Reactome", "description": "Defective CYP21A2 causes AH3" } ], 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activity", "id": "GO:0103069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0103069", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" }, { "name": "progesterone 21-hydroxylase activity", "id": "GO:0106309", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0106309", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" }, { "name": "monooxygenase activity", "id": "GO:0004497", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004497", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" }, { "name": "oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen", "id": "GO:0016705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016705", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 1, "go_terms": [ { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "sterol metabolic process", "id": "GO:0016125", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016125", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" }, { "name": "steroid biosynthetic process", "id": "GO:0006694", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006694", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" }, { "name": "glucocorticoid biosynthetic process", "id": "GO:0006704", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006704", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" }, { "name": "mineralocorticoid biosynthetic process", "id": "GO:0006705", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006705", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" }, { "name": "steroid metabolic process", "id": "GO:0008202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008202", "evidence": [ { "database": "UniProtKB", "id": "P08686", "url": "https://www.uniprot.org/uniprot/P08686" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 347, "end_pos": 349, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [ { "id": "50304", "name": "", "equation": "O2 + progesterone + reduced [NADPH--hemoprotein reductase] = 21-hydroxyprogesterone + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q64562-1", "P08686-1", "P03940-1" ], "evidence": [ { "id": "50304", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50304" } ] }, { "id": "50308", "name": "", "equation": "17alpha-hydroxyprogesterone + O2 + reduced [NADPH--hemoprotein reductase] = 11-deoxycortisol + H(+) + H2O + oxidized [NADPH--hemoprotein reductase]", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "Q64562-1", "P08686-1", "P03940-1" ], "evidence": [ { "id": "50308", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/50308" } ] }, { "id": "R-HSA-193964", "name": "CYP21A2 21-hydroxylates PROG", "equation": "", "summary": "Progesterone, NAPDH + H+, and O2 react to form 11-deoxycorticosterone, NADP+ and H2O. This reaction is catalyzed by CYP21A2 associated with the endoplasmic reticulum membrane.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-194037" ], "enzyme_list": [ "P08686-1" ], "evidence": [ { "id": "R-HSA-193964", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193964" } ] }, { "id": "R-HSA-193981", "name": "CYP21A2 oxidises 17HPROG", "equation": "", "summary": "17-Hydroxyprogesterone, NADPH + H+, and O2 react to form 11-deoxycortisol, NADP+, and H2O. This reaction is catalyzed by CYP21A2 (steroid 21-hydroxylase) associated with the endoplasmic reticulum membrane.", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [ "R-ALL-193966" ], "enzyme_list": [ "P08686-1" ], "evidence": [ { "id": "R-HSA-193981", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-193981" } ] }, { "id": "R-HSA-5601976", "name": "Defective CYP21A2 does not 21-hydroxylate PROG", "equation": "", "summary": "Steroid 21-hydroxylase (CYP21A2) specifically catalyses the 21-hydroxylation of steroids which is required for the adrenal synthesis of mineralocorticoids and glucocorticoids. Defects in CYP21A2 can cause adrenal hyperplasia 3 (AH3; MIM:201910), a form of congenital adrenal hyperplasia (CAH) where cortisol synthesis is defective. This results in increased ACTH levels, causing overproduction and accumulation of cortisol precursors, particularly 17-hydroxyprogesterone (17HPROG). The resultant excessive production of androgens causes virilization. The most severe form of CAH caused by CYP21A2 is known as salt-wasting (SW), which is due to complete or almost complete loss of enzymatic activity. CYP21A2 mutations causing SW include G292S, V237E, Q318*, W406*, E380D (Wedell et al. 1992, White et al. 1998, Robins et al. 2005, Wedell & Luthman 1993, Kirby-Keyser et al. 1997).", "cellular_location": "cytosol, endoplasmic reticulum membrane", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P08686-1" ], "evidence": [ { "id": "R-HSA-5601976", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5601976" } ] } ], "reaction_participants": [ { "participant_id": "R-ALL-193966", "participant_name": "11-deoxycortisol [cytosol]", "crossref": [ { "id": "C05488", "database": "COMPOUND", "url": "" }, { "id": "28324", "database": "ChEBI", "url": "" }, { "id": "000003860956", "database": "ZINC", "url": "" }, { "id": "5100", "database": "Guide to Pharmacology - Ligands", "url": "" }, { "id": "HMDB0000015", "database": "HMDB Metabolite", "url": "" }, { "id": "C05488", "database": "COMPOUND", "url": "" }, { "id": "000003860956", "database": 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