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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]
CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2) is a Protein Coding gene. Diseases associated with CYP21A2 include Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency and Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency. Among its related pathways are Cytochrome P450 - arranged by substrate type and Corticotropin-releasing hormone signaling pathway. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004497 | monooxygenase activity | IEA | -- |
GO:0004509 | steroid 21-monooxygenase activity | TAS | -- |
GO:0005496 | steroid binding | IEA | -- |
GO:0005506 | iron ion binding | IEA | -- |
GO:0008289 | lipid binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005789 | endoplasmic reticulum membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0031090 | organelle membrane | IEA | -- |
GO:0043231 | intracellular membrane-bounded organelle | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Metabolism of steroid hormones | ||
3 | Aldosterone synthesis and secretion |
.41
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4 | Metabolism |
.40
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5 | Steroid hormone biosynthesis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006694 | steroid biosynthetic process | IBA,IDA | 25855791 |
GO:0006704 | glucocorticoid biosynthetic process | IBA,TAS | -- |
GO:0006705 | mineralocorticoid biosynthetic process | TAS | -- |
GO:0008202 | steroid metabolic process | IMP | 16984992 |
GO:0016125 | sterol metabolic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ketoconazole | Approved, Investigational | Pharma | Target, inhibitor | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor | 195 | |
Hydrocortisone | Approved, Vet_approved | Pharma | 941 | |||
Oxygen | Approved, Vet_approved | Pharma | 0 | |||
Progesterone | Approved, Vet_approved | Pharma | Endogenous progesterone receptor agonist | 791 | ||
Levoketoconazole | Approved, Investigational | Pharma | Enzyme, inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
21-deoxycortisol |
|
641-77-0 | ||||
11beta-Hydroxyprogesterone |
|
600-57-7 |
|
|||
17a,20a-Dihydroxycholesterol |
|
1167-48-2 |
|
|||
17a-Hydroxypregnenolone |
|
387-79-1 |
|
|||
21-Hydroxypregnenolone |
|
1164-98-3 |
|
Compound | Action | Cas Number |
---|---|---|
Abiraterone acetate | Cytochrome p450 17a1 inhibitor | 154229-18-2 |
Avasimibe | ACAT inhibitor,orally bioavailable | 166518-60-1 |
Ifosfamide | Cytostatic agent | 3778-73-2 |
Ketoconazole | Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase | 65277-42-1 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | LOC745345 30 |
|
||
CYP21A2 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | CYP21 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | CYP21A2 30 |
|
||
CYP21 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | Cyp21a1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cyp21a1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | CYP21A2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CYP21A2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CYP21A2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100489813 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC793249 30 |
|
||
cyp21a2 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | spo 31 |
|
ManyToMany | |
spok 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
35996 | Uncertain Significance: Congenital adrenal hyperplasia | 32,039,847(+) |
AC/GT NM_000500.9(CYP21A2):c.738+12_738+13inv |
INTRON | |
987867 | Likely Pathogenic: Congenital adrenal hyperplasia | 32,038,310(+) |
G/A NM_000500.7:c.-113G>A |
||
988276 | Pathogenic: not provided | 32,040,418(+) |
C/T NM_000500.9(CYP21A2):c.952C>T (p.Leu318=) |
SYNONYMOUS | |
988286 | Pathogenic: not provided | 32,040,532(+) |
C/T NM_000500.9(CYP21A2):c.1066C>T (p.Leu356=) |
SYNONYMOUS | |
988330 | Pathogenic: not provided | 32,038,514(+) |
C/A NM_000500.9(CYP21A2):c.92C>A (p.Pro31Gln) |
MISSENSE_VARIANT,FIVE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv10403n54 | CNV | loss | 21841781 |
dgv10404n54 | CNV | loss | 21841781 |
dgv10463n54 | CNV | loss | 21841781 |
dgv10468n54 | CNV | loss | 21841781 |
dgv10472n54 | CNV | loss | 21841781 |
dgv10477n54 | CNV | loss | 21841781 |
dgv10482n54 | CNV | loss | 21841781 |
dgv10485n54 | CNV | gain | 21841781 |
dgv20n31 | CNV | gain | 19718026 |
esv2731825 | CNV | deletion | 23290073 |
esv2759415 | CNV | gain+loss | 17122850 |
esv28110 | CNV | gain+loss | 19812545 |
esv3890827 | CNV | gain+loss | 25118596 |
nsv1073969 | CNV | deletion | 25765185 |
nsv10824 | CNV | gain+loss | 18304495 |
nsv1112900 | CNV | deletion | 24896259 |
nsv1126749 | CNV | deletion | 24896259 |
nsv285 | CNV | deletion | 15895083 |
nsv428141 | CNV | gain+loss | 18775914 |
nsv433379 | CNV | gain | 18776910 |
nsv5247 | CNV | deletion | 18451855 |
nsv5248 | CNV | insertion | 18451855 |
nsv601971 | CNV | gain | 21841781 |
nsv602045 | CNV | gain | 21841781 |
nsv602095 | CNV | loss | 21841781 |
nsv602098 | CNV | gain | 21841781 |
nsv602099 | CNV | gain | 21841781 |
nsv602100 | CNV | loss | 21841781 |
nsv981129 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency |
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|
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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|
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form |
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classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form |
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hyperandrogenism |
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