• Gene id: 1589

Gene Summary

• Gene Symbol: CYP21A2   Gene   UCSC   Ensembl
• Aliases: CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B
• Gene name: cytochrome P450 family 21 subfamily A member 2
• Alternate names: 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 hydrox,
• Gene location: 6p21.33 (32038315: 32041669)     Exons: 10     NC_000006.12
• Gene summary(Entrez): 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 local
• OMIM: 613815

SNPs

rs553509

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013293T>C
NW_004070885.1   g.149709T>C
NG_016406.2   g.5396A>G
NM_001002916.4   c.368A>G
NC_000023.10   g.103267865C>T
NP_001002916.3   p.His123Arg|SEQ=[T/C]|GENE=H2BW1

rs7885967

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000023.11   g.104013669G>A
NW_004070885.1   g.150085G>A
NG_016406.2   g.5020C>T
NM_001002916.4   c.-9C>T
NC_000023.10   g.103268241G>A|SEQ=[G/A]|GENE=H2BW1

Protein Summary

• Protein general information: P08686  
  • Name: Steroid 21 hydroxylase (EC 1.14.14.16) (21 OHase) (Cytochrome P 450c21) (Cytochrome P450 21) (Cytochrome P450 XXI) (Cytochrome P450 C21) (Cytochrome P450 C21B)
  • Length: 494  
  • Mass: 55,887
• Sequence:

  MLLLGLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKR
  TIEEAMVKKWADFAGRPEPLTYKLVSKNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERM
  RAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRR
  LKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTL
  SWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISG
  YDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFT
  LLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQNQ

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002401  IPR036396  
  • Prosite: PS00086
  • PDB: 2GEG 4Y8W
  • PDBsum: 2GEG 4Y8W
  • STRING: ENSP00000408860
• Other Databases: GeneCards:  CYP21A2  Malacards:  CYP21A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004509	steroid 21-monooxygenase activity	IDA	molecular function
GO:0004509	steroid 21-monooxygenase activity	TAS	molecular function
GO:0004509	steroid 21-monooxygenase activity	TAS	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0008395	steroid hydroxylase activity	IMP	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004509	steroid 21-monooxygenase activity	IDA	molecular function
GO:0004509	steroid 21-monooxygenase activity	TAS	molecular function
GO:0004509	steroid 21-monooxygenase activity	TAS	molecular function
GO:0005496	steroid binding	IEA	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	IMP	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0031090	organelle membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0004509	steroid 21-monooxygenase activity	IDA	molecular function
GO:0004509	steroid 21-monooxygenase activity	TAS	molecular function
GO:0004509	steroid 21-monooxygenase activity	TAS	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006694	steroid biosynthetic process	IDA	biological process
GO:0006704	glucocorticoid biosynthetic process	TAS	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008202	steroid metabolic process	IMP	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	IMP	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0020037	heme binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04925	Aldosterone synthesis and secretion
hsa04927	Cortisol synthesis and secretion
hsa04934	Cushing syndrome

Diseases

Associated diseases	References
Brill-Symmers disease	GAD: 20029944
Cancer	GAD: 18636124
Cancer (Adenoma)	GAD: 18589890
Cancer (lymphoma)	GAD: 18636124
Cancer (meningeal)	GAD: 20406964
Hypertension	GAD: 20617557
Congenital abnormalities	GAD: 14502362
Primary ciliary dyskinesia	KEGG: H00564
Cystic fibrosis	GAD: 16238926
Hyperandrogenism	GAD: 16712666
Addison's disease	INFBASE: 25353971
Rheumatoid arthritis	GAD: 19116923
Bone diseases	GAD: 19453261
Autism	GAD: 19598235
21-hydroxylase deficiency (CAH)	GAD: 16046588
Late-onset congenital adrenal hyperplasia	GAD: 15004406
Precocious puberty	GAD: 12370110
Hirsutism	GAD: 19085698
Secondary amennorhea	INFBASE: 25353971
Nonclassical congenital adrenal hyperplasia	INFBASE: 25041270
Congenital adrenal hyperplasia	INFBASE: 20080854
Female pseudohermaphroditism	INFBASE: 23450434
Polycystic ovary syndrome (PCOS)	INFBASE: 2347091
Turners syndrome	INFBASE: 8306479
Congenital adrenal hyperplasia	MIK: 9385370
Nonclassical congenital adrenal hyperplasia (NC-CAH)	MIK: 25041270

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25041270	Nonclassical congenital adrenal hyperplasia (NC-CAH)	p.V281L		280 with NC-CAH	Male infertility, Female infertility
11220701	Congenital adrenal hyperplasia	Ile173Asn, followed by intron2 splice, Gln319stop, gene deletion and Pro31Leu		28 patients with salt-wasting (SW) or simple-virilizing (SV)	Male infertility, Female infertility
9385370	Congenital adrenal hyperplasia			69 69 unrelated hyperandrogenic subjects	Male infertility, Female infertility
16705555	Congenital adrenal hyperplasia (CAH)	I172N (ATC --> AAC) in exon 4 of allele 1		1 (small testes, bilateral testicular masses, and asthenozoospermia)	Male infertility	CTP21A2