CYP21A2: Polycystic Ovarian Syndrome Database

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CYP21A2

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

CYP21A2

Aliases

CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B

Entrez Gene ID

1589

Gene Name

Cytochrome P450 family 21 subfamily A member 2

Chromosomal Location

6p21.33

HGNC ID

HGNC:2600

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]

RefSeq DNA

NG_007941.3

RefSeq mRNA

NM_000500.9, NM_001128590.3, NM_001368143.1, NM_001368144.1

e!Ensembl

Gene	ENSG00000206338, ENSG00000198457, ENSG00000235134, ENSG00000233151, ENSG00000231852, ENSG00000232414
Transcript	ENST00000383322, ENST00000383321, ENST00000448314, ENST00000452708, ENST00000436607, ENST00000448877, ENST00000456152, ENST00000452386, ENST00000466779, ENST00000478281, ENST00000471671, ENST00000435122, ENST00000644719, ENST00000469053, ENST00000448478, ENST00000434026
Protein	ENSP00000372812, ENSP00000372811, ENSP00000398594, ENSP00000390312, ENSP00000403721, ENSP00000407338, ENSP00000394942, ENSP00000403230, ENSP00000417321, ENSP00000419572, ENSP00000418561, ENSP00000415043, ENSP00000496625, ENSP00000418104, ENSP00000416598, ENSP00000392321

Gene Ontology (GO)

Show/Hide all(5 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006694	Biological process	Steroid biosynthetic process	IDA	25855791
GO:0008202	Biological process	Steroid metabolic process	IMP	16984992
GO:0004509	Molecular function	Steroid 21-monooxygenase activity	IDA	25855791
GO:0008395	Molecular function	Steroid hydroxylase activity	IMP	16984992
GO:0020037	Molecular function	Heme binding	IDA	25855791

Protein Information

Protein Name

Steroid 21-hydroxylase, 21-OHase, cytochrome P450 XXI, cytochrome P450, family 21, subfamily A, polypeptide 2, cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2, cytochrome P450-C21B, steroid 21 hydroxylase, steroid 21-monooxygenase

Function

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

Refseq Proteins

NP_000491.4, NP_001122062.3, NP_001355072.1, NP_001355073.1

UniProt

P08686

PDB

5VBU, 2GEG, 4Y8W

Pathways
	KEGG	Reactome
	Steroid hormone biosynthesis Metabolic pathways Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome	Mineralocorticoid biosynthesis Glucocorticoid biosynthesis Endogenous sterols Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)

Interactions

STRING	MINT	IntAct
ENSP00000385995		Q6YHU6

View interactions

Associated Diseases

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Disease group	Disease Name	References
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
	Genetic Diseases	12930931, 15964450, 23692712, 24904866, 10857554, 23359698, 9521938, 24778650, 25041270
	Congenital Adrenal Hyperplasia	25741868
Endocrine System Diseases
	Hyperandrogenism	1406699, 10198222, 3497399, 1644925, 9580109, 27721825, 21169732, 14715874, 12788866, 12887291, 10720040, 10094562, 8478006, 1406709, 3871526, 16046588, 10408786, 9067760, 10443693, 12213891, 10391209, 9187661, 18381579, 1937474, 15126570, 16984992, 1864962, 10408778, 12222711, 10496
	Congenital adrenal hyperplasia	16705555, 18445671, 10364682, 11232002, 9187661, 10198222, 12788866, 3260007, 18381579, 9580109, 20080860, 3267225, 12887291, 9497336, 10391209, 12213891, 16984992, 2072928, 14715874, 1644925, 11600539, 18319307, 16046588, 2303461, 15110320, 3257825, 10408786, 10720040, 1937474, 10496074, 1406
	21-Hydroxylase Deficiency	18381579, 1937474, 24671123, 23891399, 8081391, 1496017, 1406699, 1644925, 2788081, 20661889, 17119906, 12915679, 18445671, 24077358, 8968761, 3267225, 19750867, 7635470, 21098686, 9215318, 25227725, 14715874, 9661649, 1864962, 10496074, 23142378, 22270556, 16427797, 8175971, 2466741
	PCOS	15705377

References

Show/Hide all(4)

PubMed ID	Associated gene/s	Associated condition	Genetic Mutation	Diagnostic Criteria	Association with PCOS	Ethnicity	Conclusion
15598692	ACTH and 17OHP				Related	252 healthy, premenopausal women with regular menses	The prevalence of CYP21 mutations in patients was 8.6% compared with 6.3% in controls (P = 0.38). Ten of 19 carriers had M17OHP levels below the cutoff limit.
15705377	IRS1		G972R variant	Inclusion criteria were evidence of ovulatory dysfunction in conjunction with hirsutism and/or hyperandrogenemia, as well as exclusion of other disorders, such as nonclassic 21-hydroxylase-deficient adrenal hyperplasia (NCAH), Cushing's syndrome, hyperpro	Related	PCOS (n = 114) and healthy controls (n = 95)	IRS1 variant and CYP21 mutations seem to play a limited role in the development of PCOS
20201644					Direct	50 women with PCOS and 60 control subjects	V281L polymorphism is not associated with PCOS in Italian women
11117678		hyperandrogenism			Direct	30 adolescent girls with hyperandrogenism, 14 healthy control women, and 15 female obligate CYP21 mutation carriers	There were no significant differences in the frequencies of the modifier variants among the three groups. Although the small sample size precludes strong conclusions, CYP21 nonsense mutation carriers tend to be asymptomatic while missense mutation carriers, i.e. V281L, appear to manifest a PCOS phenotype.