Tchem CYP21A2 Steroid 21-hydroxylase

Protein Summary

Description

Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889). 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]

Uniprot Accession IDs

• P08686
• A2BHY6
• P04033
• Q01204
• Q08AG8
• Q16749
• Q16806
• Q5ST44
• Q96NU8

Gene Name

• CYP21A2

Ensembl ID

• ENST00000383321
• ENSP00000372811
• ENSG00000206338
• ENST00000434026
• ENSP00000392321
• ENSG00000232414
• ENST00000435122
• ENSP00000415043
• ENSG00000231852
• ENST00000436607
• ENSP00000403721
• ENSG00000235134
• ENST00000448314
• ENSP00000398594
• ENSG00000198457
• ENST00000452386
• ENSP00000403230
• ENSG00000233151

Symbol

• CYP21
• CYP21B
• CAH1
• CPS1
• CA21H
• CYP21
• CYP21B
• P450c21B

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	0.91
disease	0.77
molecular function	0.67
pathway	0.65
cell type or tissue	0.61

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1012.26   (req: < 5)

Gene RIFs: 253   (req: <= 3)

Antibodies: 297   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1012.26   (req: >= 5)

Gene RIFs: 253   (req: > 3)

Antibodies: 297   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 58

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0