CYP21A2
entrez
1589
canonical
uniprot
P08686
canonical
ensembl
ENSG00000198457
resolver
ensembl
ENSG00000206338
resolver
ensembl
ENSG00000231852
resolver
ensembl
ENSG00000232414
resolver
ensembl
ENSG00000233151
resolver
ensembl
ENSG00000235134
resolver
ensp
ENSP00000398594
resolver
ensp
ENSP00000403721
resolver
ensp
ENSP00000415043
resolver
ensp
ENSP00000496625
resolver
enst
ENST00000436607
resolver
enst
ENST00000448314
resolver
genesymbol
CYP21A2
resolver
genesymbol_syn
CYP21
resolver
genesymbol_syn
CYP21B
resolver
hgnc
HGNC:2600
resolver
uniprot
A2BHY6
resolver
uniprot
P04033
resolver
uniprot
Q01204
resolver
uniprot
Q08AG8
resolver
uniprot
Q08AG9
resolver
uniprot
Q16749
resolver
uniprot
Q16806
resolver
uniprot
Q16874
resolver
uniprot
Q5ST44
resolver
uniprot
Q96NU8
resolver
uniprot_entry
CP21A_HUMAN
resolver
uniprot_entry
Q08AG9_HUMAN
resolver
uniprot_sec
A2BHY6
resolver
uniprot_sec
P04033
resolver
uniprot_sec
Q01204
resolver
uniprot_sec
Q08AG8
resolver
uniprot_sec
Q16749
resolver
uniprot_sec
Q16806
resolver
uniprot_sec
Q16874
resolver
uniprot_sec
Q5ST44
resolver
uniprot_sec
Q96NU8
resolver
amino_acid_sequence
MLLLGLLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYRLHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSRNYPDLSLGDYSLLWKAHKKLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDKIKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQLRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTLSWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVPLALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALAFGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRLQPRGMGAHSPGQSQ
uniprot
proteins
disease_involvement
DISEASE: Adrenal hyperplasia 3 (AH3) [MIM:201910]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). {ECO:0000269|PubMed:10051010, ECO:0000269|PubMed:10094562, ECO:0000269|PubMed:10198222, ECO:0000269|PubMed:10364682, ECO:0000269|PubMed:10391209, ECO:0000269|PubMed:10408778, ECO:0000269|PubMed:10408786, ECO:0000269|PubMed:10443693, ECO:0000269|PubMed:10496074, ECO:0000269|PubMed:10720040, ECO:0000269|PubMed:11232002, ECO:0000269|PubMed:11598371, ECO:0000269|PubMed:11600539, ECO:0000269|PubMed:11746135, ECO:0000269|PubMed:12213891, ECO:0000269|PubMed:12222711, ECO:0000269|PubMed:12788866, ECO:0000269|PubMed:12887291, ECO:0000269|PubMed:12915679, ECO:0000269|PubMed:1406699, ECO:0000269|PubMed:1406709, ECO:0000269|PubMed:14676460, ECO:0000269|PubMed:14715874, ECO:0000269|PubMed:1496017, ECO:0000269|PubMed:15110320, ECO:0000269|PubMed:15126570, ECO:0000269|PubMed:16046588, ECO:0000269|PubMed:1644925, ECO:0000269|PubMed:16984992, ECO:0000269|PubMed:18319307, ECO:0000269|PubMed:18381579, ECO:0000269|PubMed:18445671, ECO:0000269|PubMed:1864962, ECO:0000269|PubMed:1937474, ECO:0000269|PubMed:20080860, ECO:0000269|PubMed:2072928, ECO:0000269|PubMed:21169732, ECO:0000269|PubMed:22014889, ECO:0000269|PubMed:2303461, ECO:0000269|PubMed:27721825, ECO:0000269|PubMed:29328376, ECO:0000269|PubMed:3038528, ECO:0000269|PubMed:3257825, ECO:0000269|PubMed:3260007, ECO:0000269|PubMed:3267225, ECO:0000269|PubMed:3497399, ECO:0000269|PubMed:3871526, ECO:0000269|PubMed:7749410, ECO:0000269|PubMed:8478006, ECO:0000269|PubMed:8485582, ECO:0000269|PubMed:8989258, ECO:0000269|PubMed:9067760, ECO:0000269|PubMed:9187661, ECO:0000269|PubMed:9497336}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.14.16
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:25855791, PubMed:27721825). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:25855791). {ECO:0000269|PubMed:10602386, ECO:0000269|PubMed:16984992, ECO:0000269|PubMed:22014889, ECO:0000269|PubMed:25855791, ECO:0000269|PubMed:27721825}.
uniprot
proteins
mass_dalton
56001
uniprot
proteins
mutagenesis
MUTAGEN 269; /note="S->C,M,T: No effect on progesterone 21-hydroxylase activity."; /evidence="ECO:0000269|PubMed:1864962"; MUTAGEN 282; /note="V->I: Decreased 21-hydroxylase activity. Normal KM but 50% reduced Vmax."; /evidence="ECO:0000269|PubMed:1864962"; MUTAGEN 282; /note="V->T: Decreased 21-hydroxylase activity. Normal KM but 10% reduced Vmax."; /evidence="ECO:0000269|PubMed:1864962"; MUTAGEN 429; /note="C->M,S,T: Loss of progesterone 21-hydroxylase activity and loss of P450 absorption."; /evidence="ECO:0000269|PubMed:1864962
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10051010
uniprot
proteins
pubmed
10094562
uniprot
proteins
pubmed
10198222
uniprot
proteins
pubmed
10364682
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10408778
uniprot
proteins
pubmed
10408786
uniprot
proteins
pubmed
10443693
uniprot
proteins
pubmed
10496074
uniprot
proteins
pubmed
10602386
uniprot
proteins
pubmed
10720040
uniprot
proteins
pubmed
11232002
uniprot
proteins
pubmed
11598371
uniprot
proteins
pubmed
11600539
uniprot
proteins
pubmed
11746135
uniprot
proteins
pubmed
12050257
uniprot
proteins
pubmed
12213891
uniprot
proteins
pubmed
12222711
uniprot
proteins
pubmed
12788866
uniprot
proteins
pubmed
12887291
uniprot
proteins
pubmed
12915679
uniprot
proteins
pubmed
1406699
uniprot
proteins
pubmed
1406709
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14656967
uniprot
proteins
pubmed
14676460
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14715874
uniprot
proteins
pubmed
1496017
uniprot
proteins
pubmed
15110320
uniprot
proteins
pubmed
15126570
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16046588
uniprot
proteins
pubmed
1644925
uniprot
proteins
pubmed
16984992
uniprot
proteins
pubmed
18319307
uniprot
proteins
pubmed
18381579
uniprot
proteins
pubmed
18445671
uniprot
proteins
pubmed
1864962
uniprot
proteins
pubmed
1937474
uniprot
proteins
pubmed
19505723
uniprot
proteins
pubmed
20080860
uniprot
proteins
pubmed
2072928
uniprot
proteins
pubmed
21169732
uniprot
proteins
pubmed
22014889
uniprot
proteins
pubmed
2303461
uniprot
proteins
pubmed
23241443
uniprot
proteins
pubmed
24312389
uniprot
proteins
pubmed
25855791
uniprot
proteins
pubmed
27721825
uniprot
proteins
pubmed
28401898
uniprot
proteins
pubmed
29328376
uniprot
proteins
pubmed
3038528
uniprot
proteins
pubmed
3257825
uniprot
proteins
pubmed
3260007
uniprot
proteins
pubmed
3267225
uniprot
proteins
pubmed
3486422
uniprot
proteins
pubmed
3487786
uniprot
proteins
pubmed
3497399
uniprot
proteins
pubmed
3871526
uniprot
proteins
pubmed
7749410
uniprot
proteins
pubmed
8081391
uniprot
proteins
pubmed
8478006
uniprot
proteins
pubmed
8485582
uniprot
proteins
pubmed
8989258
uniprot
proteins
pubmed
9067760
uniprot
proteins
pubmed
9187661
uniprot
proteins
pubmed
9497336
uniprot
proteins
pubmed
9580109
uniprot
proteins
sequence_length
495
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein {ECO:0000269|PubMed:10198222}. Microsome membrane {ECO:0000269|PubMed:10198222}; Peripheral membrane protein {ECO:0000269|PubMed:10198222}.
uniprot
proteins