CYP11B2
entrez
1585
canonical
uniprot
P19099
canonical
ensembl
ENSG00000179142
resolver
ensp
ENSP00000325822
resolver
enst
ENST00000323110
resolver
genesymbol
CYP11B2
resolver
hgnc
HGNC:2592
resolver
uniprot
B0ZBE4
resolver
uniprot
Q16726
resolver
uniprot_entry
C11B2_HUMAN
resolver
uniprot_sec
B0ZBE4
resolver
uniprot_sec
Q16726
resolver
amino_acid_sequence
MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFMPRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELSLEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAGTLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQEDIKMVYSFILRPGTSPLLTFRAIN
uniprot
proteins
disease_involvement
DISEASE: Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) [MIM:203400]: Autosomal recessive disorder of aldosterone biosynthesis. There are two biochemically different forms of selective aldosterone deficiency be termed corticosterone methyloxidase (CMO) deficiency type 1 and type 2. In CMO-1 deficiency, aldosterone is undetectable in plasma, while its immediate precursor, 18-hydroxycorticosterone, is low or normal. {ECO:0000269|PubMed:11238478, ECO:0000269|PubMed:8439335, ECO:0000269|PubMed:9177280}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]: Autosomal recessive disorder of aldosterone biosynthesis. In CMO-2 deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-hydroxycorticosterone. Consequently, patients have a greatly increased ratio of 18-hydroxycorticosterone to aldosterone and a low ratio of corticosterone to 18-hydroxycorticosterone in serum. {ECO:0000269|PubMed:12788848, ECO:0000269|PubMed:1346492, ECO:0000269|PubMed:1594605, ECO:0000269|PubMed:9625333, ECO:0000269|PubMed:9814506}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.15.4
uniprot
proteins
ec_number
1.14.15.5
uniprot
proteins
function
FUNCTION: A cytochrome P450 monooxygenase that catalyzes the biosynthesis of aldosterone, the main mineralocorticoid in the human body responsible for salt and water homeostasis, thus involved in blood pressure regulation, arterial hypertension, and the development of heart failure (PubMed:11856349, PubMed:12530636, PubMed:1518866, PubMed:15356073, PubMed:1594605, PubMed:1775135, PubMed:22446688, PubMed:23322723, PubMed:9814482, PubMed:9814506). Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone (21-hydroxyprogesterone), namely 11-beta hydroxylation, followed by two successive oxidations at C18 yielding 18-hydroxy and then 18-oxo intermediates (that would not leave the enzyme active site during the consecutive hydroxylation reactions), ending with the formation of aldosterone (PubMed:11856349, PubMed:12530636, PubMed:1518866, PubMed:1594605, PubMed:1775135, PubMed:22446688, PubMed:23322723, PubMed:9814506). Can also produce 18-hydroxycortisol and 18-oxocortisol, derived from successive oxidations of cortisol at C18, normally found at very low levels, but significantly increased in primary aldosteronism, the most common form of secondary hypertension (PubMed:15356073, PubMed:9814482). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:11856349, PubMed:1594605, PubMed:23322723, PubMed:23685396, PubMed:9814506). Besides its role in the biosynthesis of mineralocorticoids and glucocorticoids, it can also participate in the androgen metabolic pathway, converting testosterone (17beta-hydroxy-4-androsten-3-one) to 11beta,17beta-dihydroxyandrost-4-ene-3-one (PubMed:23685396). Can also use progesterone as substrate (PubMed:33189850). {ECO:0000269|PubMed:11856349, ECO:0000269|PubMed:12530636, ECO:0000269|PubMed:1518866, ECO:0000269|PubMed:15356073, ECO:0000269|PubMed:1594605, ECO:0000269|PubMed:1775135, ECO:0000269|PubMed:22446688, ECO:0000269|PubMed:23322723, ECO:0000269|PubMed:23685396, ECO:0000269|PubMed:33189850, ECO:0000269|PubMed:9814482, ECO:0000269|PubMed:9814506, ECO:0000305|PubMed:23322723}.
uniprot
proteins
mass_dalton
57560
uniprot
proteins
mutagenesis
MUTAGEN 112; /note="I->P: Increases 11-beta- and 18-hydroxylase activities toward 11-deoxycorticosterone; increases 11-beta-hydroxylase activity toward 11-deoxycortisol."; /evidence="ECO:0000269|PubMed:11856349"; MUTAGEN 147; /note="D->E: Increases 11-beta-hydroxylase activity toward 11-deoxycorticosterone and 11-deoxycortisol."; /evidence="ECO:0000269|PubMed:11856349"; MUTAGEN 152; /note="K->N: No significant effect on hydroxylase activities toward 11-deoxycorticosterone and 11-deoxycortisol."; /evidence="ECO:0000269|PubMed:11856349
uniprot
proteins
pathway_participation
PATHWAY: Steroid biosynthesis. {ECO:0000269|PubMed:11856349, ECO:0000269|PubMed:1594605, ECO:0000269|PubMed:23322723, ECO:0000269|PubMed:9814506}.
uniprot
proteins
protein_family
Cytochrome P450 family
uniprot
proteins
pubmed
10391209
uniprot
proteins
pubmed
10391210
uniprot
proteins
pubmed
11238478
uniprot
proteins
pubmed
11856349
uniprot
proteins
pubmed
12530636
uniprot
proteins
pubmed
12788848
uniprot
proteins
pubmed
1346492
uniprot
proteins
pubmed
1518866
uniprot
proteins
pubmed
15356073
uniprot
proteins
pubmed
1594605
uniprot
proteins
pubmed
1775135
uniprot
proteins
pubmed
20200334
uniprot
proteins
pubmed
2040591
uniprot
proteins
pubmed
22446688
uniprot
proteins
pubmed
2256920
uniprot
proteins
pubmed
23322723
uniprot
proteins
pubmed
23685396
uniprot
proteins
pubmed
2592361
uniprot
proteins
pubmed
33189850
uniprot
proteins
pubmed
8439335
uniprot
proteins
pubmed
9139807
uniprot
proteins
pubmed
9177280
uniprot
proteins
pubmed
9625333
uniprot
proteins
pubmed
9814482
uniprot
proteins
pubmed
9814506
uniprot
proteins
pubmed
9931115
uniprot
proteins
sequence_length
503
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P14137}; Peripheral membrane protein {ECO:0000250|UniProtKB:P14137}.
uniprot
proteins