Enrichment analyses of diseases and pathways associated with precocious puberty using PrecocityDB

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

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_001128590.4, NM_001368143.2, NM_001368144.2

e!Ensembl

Gene	ENSG00000232414, ENSG00000206338, ENSG00000231852, ENSG00000233151, ENSG00000198457, ENSG00000235134
Transcript	ENST00000448478, ENST00000496557, ENST00000473538, ENST00000466302, ENST00000460626, ENST00000468340, ENST00000496471, ENST00000475619, ENST00000459819, ENST00000434026, ENST00000489833, ENST00000383322, ENST00000469664, ENST00000460689, ENST00000496483, ENST00000492024, ENST00000467455, ENST00000461324, ENST00000465847, ENST00000383321, ENST00000466779, ENST00000486063, ENST00000479074, ENST00000479730, ENST00000480027, ENST00000483041, ENST00000478281, ENST00000488465, ENST00000471671, ENST00000435122, ENST00000644719, ENST00000469053, ENST00000464325, ENST00000466879, ENST00000462278, ENST00000456152, ENST00000487373, ENST00000487592, ENST00000493137, ENST00000472130, ENST00000495919, ENST00000466275, ENST00000474613, ENST00000466113, ENST00000452386, ENST00000448314, ENST00000480731, ENST00000494168, ENST00000468185, ENST00000470187, ENST00000477608, ENST00000469046, ENST00000486312, ENST00000480660, ENST00000452708, ENST00000436607, ENST00000496685, ENST00000489576, ENST00000464272, ENST00000460263, ENST00000493848, ENST00000497396, ENST00000462292, ENST00000494716, ENST00000448877
Protein	ENSP00000416598, , ENSP00000392321, ENSP00000372812, ENSP00000372811, ENSP00000417321, ENSP00000419572, ENSP00000418561, ENSP00000415043, ENSP00000496625, ENSP00000418104, ENSP00000394942, ENSP00000403230, ENSP00000398594, ENSP00000390312, ENSP00000403721, ENSP00000407338

SNPs

Show/Hide all(14)

SNP	SNP ID	Associated disease	References
Val281Leu		Precocious puberty	9666866, 11287026, 19844122, 20059433, 21646284
Gln318X		Premature pubarche	11287026, 2164628
R356W		Premature pubarche	19844122, 21646284
8bpdelE3		Premature pubarche	19844122
intron 2 splice		Premature pubarche	19844122
M150R		Premature pubarche	21646284
Intron 2(A/C 656 to G)		Premature pubarche	21646284
R341W		Gonadotropin Independent Precocious Puberty	27180336
823G>A		Gonadotropin Independent Precocious Puberty	27180336
I172N	rs6475	Premature pubarche	11287026, 19844122, 21646284, 31026224
P30L	rs9378251	Premature pubarche	11287026, 19844122, 21646284, 31026224
P453S	rs776989258	Premature pubarche	11287026, 21646284
Asn493Ser	rs6473	Premature pubarche	15994751
P453S	rs6445	Premature pubarche	19844122

Gene Ontology (GO)

Show/Hide all(10 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006694	Biological process	Steroid biosynthetic process	IBA	21873635
GO:0006694	Biological process	Steroid biosynthetic process	IDA	25855791
GO:0006704	Biological process	Glucocorticoid biosynthetic process	IBA	21873635
GO:0008202	Biological process	Steroid metabolic process	IMP	16984992
GO:0004509	Molecular function	Steroid 21-monooxygenase activity	IBA	21873635
GO:0004509	Molecular function	Steroid 21-monooxygenase activity	IDA	25855791
GO:0008395	Molecular function	Steroid hydroxylase activity	IBA	21873635
GO:0008395	Molecular function	Steroid hydroxylase activity	IMP	16984992
GO:0020037	Molecular function	Heme binding	IBA	21873635
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

2GEG, 4Y8W