CYP11B2 (cytochrome P450 family 11 subfamily B member 2)

Gene

• Entrez ID: 1585
• Gene name: Cytochrome P450 family 11 subfamily B member 2
• Gene symbol: CYP11B2
• Synonyms: ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo
• Chromosome: 8
• Chromosome location: 8q24.3
• 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 local

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931609	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs61757294	A>C,G	Benign, pathogenic	Coding sequence variant, missense variant
rs72554626	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554627	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894072	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121912977	C>A	Pathogenic	Stop gained, coding sequence variant
rs121912978	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121912979	G>A	Pathogenic	Stop gained, coding sequence variant
rs759384300	G>A	Pathogenic	Coding sequence variant, stop gained
rs760329766	C>G,T	Pathogenic	Synonymous variant, coding sequence variant
rs761385416	C>T	Likely-pathogenic	Splice donor variant
rs771908700	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs878852988	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029873	hsa-miR-26b-5p	Microarray	19088304
MIRT053238	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR	23836801
MIRT053238	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR	23836801
MIRT053238	hsa-miR-24-3p	Luciferase reporter assay, qRT-PCR	23836801
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22291592
MIRT443535	hsa-miR-4780	PAR-CLIP	22291592
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22291592
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22291592
MIRT443534	hsa-miR-623	PAR-CLIP	22291592
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22291592
MIRT442086	hsa-miR-4666b	PAR-CLIP	22291592
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	23708386
MIRT443535	hsa-miR-4780	PAR-CLIP	23708386
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	23708386
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	23708386
MIRT443534	hsa-miR-623	PAR-CLIP	23708386
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	23708386
MIRT442086	hsa-miR-4666b	PAR-CLIP	23708386
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT443535	hsa-miR-4780	PAR-CLIP	22100165
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT443534	hsa-miR-623	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22291592
MIRT443535	hsa-miR-4780	PAR-CLIP	22291592
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22291592
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22291592
MIRT443534	hsa-miR-623	PAR-CLIP	22291592
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22291592
MIRT442086	hsa-miR-4666b	PAR-CLIP	22291592
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	23708386
MIRT443535	hsa-miR-4780	PAR-CLIP	23708386
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	23708386
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	23708386
MIRT443534	hsa-miR-623	PAR-CLIP	23708386
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	23708386
MIRT442086	hsa-miR-4666b	PAR-CLIP	23708386
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT443535	hsa-miR-4780	PAR-CLIP	22100165
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT443534	hsa-miR-623	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT920428	hsa-miR-1228	CLIP-seq
MIRT920429	hsa-miR-1253	CLIP-seq
MIRT920430	hsa-miR-1286	CLIP-seq
MIRT920431	hsa-miR-185	CLIP-seq
MIRT920432	hsa-miR-2113	CLIP-seq
MIRT920433	hsa-miR-2682	CLIP-seq
MIRT920434	hsa-miR-28-5p	CLIP-seq
MIRT920435	hsa-miR-3064-5p	CLIP-seq
MIRT920436	hsa-miR-3139	CLIP-seq
MIRT920437	hsa-miR-329	CLIP-seq
MIRT920438	hsa-miR-362-3p	CLIP-seq
MIRT920439	hsa-miR-3652	CLIP-seq
MIRT920440	hsa-miR-3672	CLIP-seq
MIRT920441	hsa-miR-3690	CLIP-seq
MIRT920442	hsa-miR-3921	CLIP-seq
MIRT920443	hsa-miR-3944-5p	CLIP-seq
MIRT920444	hsa-miR-4254	CLIP-seq
MIRT920445	hsa-miR-4306	CLIP-seq
MIRT920446	hsa-miR-4430	CLIP-seq
MIRT920447	hsa-miR-4475	CLIP-seq
MIRT920448	hsa-miR-4476	CLIP-seq
MIRT920449	hsa-miR-4487	CLIP-seq
MIRT920450	hsa-miR-449c	CLIP-seq
MIRT920451	hsa-miR-4505	CLIP-seq
MIRT920452	hsa-miR-4520a-3p	CLIP-seq
MIRT920453	hsa-miR-4638-3p	CLIP-seq
MIRT920454	hsa-miR-4644	CLIP-seq
MIRT920455	hsa-miR-4649-3p	CLIP-seq
MIRT920456	hsa-miR-4653-5p	CLIP-seq
MIRT920457	hsa-miR-4722-5p	CLIP-seq
MIRT920458	hsa-miR-4724-5p	CLIP-seq
MIRT920459	hsa-miR-4786-3p	CLIP-seq
MIRT920460	hsa-miR-606	CLIP-seq
MIRT920461	hsa-miR-671-5p	CLIP-seq
MIRT920462	hsa-miR-708	CLIP-seq
MIRT920463	hsa-miR-940	CLIP-seq
MIRT1972774	hsa-miR-3136-3p	CLIP-seq
MIRT1972775	hsa-miR-3200-5p	CLIP-seq
MIRT1972776	hsa-miR-328	CLIP-seq
MIRT1972777	hsa-miR-4682	CLIP-seq
MIRT2208430	hsa-miR-3664-3p	CLIP-seq
MIRT920441	hsa-miR-3690	CLIP-seq
MIRT920444	hsa-miR-4254	CLIP-seq
MIRT2208431	hsa-miR-4522	CLIP-seq
MIRT2208432	hsa-miR-4667-5p	CLIP-seq
MIRT2208433	hsa-miR-4700-5p	CLIP-seq
MIRT2208434	hsa-miR-4731-5p	CLIP-seq
MIRT2208435	hsa-miR-510	CLIP-seq
MIRT2208436	hsa-miR-873	CLIP-seq
MIRT920431	hsa-miR-185	CLIP-seq
MIRT2208430	hsa-miR-3664-3p	CLIP-seq
MIRT920445	hsa-miR-4306	CLIP-seq
MIRT920454	hsa-miR-4644	CLIP-seq
MIRT2208436	hsa-miR-873	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
APEX1	Repression	22652909
ATF1	Unknown	11196473
ATF2	Unknown	11196473
CREB1	Unknown	11196473
NR5A1	Repression	21169726

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002017	Process	Regulation of blood volume by renal aldosterone	IMP	14614232
GO:0003091	Process	Renal water homeostasis	IC	2256920
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IBA	21873635
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IDA	1741400, 2256920, 23322723
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	IDA	1741400, 2256920
GO:0005743	Component	Mitochondrial inner membrane	IBA	21873635
GO:0005743	Component	Mitochondrial inner membrane	IC	2256920
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006700	Process	C21-steroid hormone biosynthetic process	IBA	21873635
GO:0006700	Process	C21-steroid hormone biosynthetic process	IDA	2256920
GO:0006704	Process	Glucocorticoid biosynthetic process	IBA	21873635
GO:0006705	Process	Mineralocorticoid biosynthetic process	TAS
GO:0008203	Process	Cholesterol metabolic process	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	TAS
GO:0016125	Process	Sterol metabolic process	TAS
GO:0020037	Function	Heme binding	IC	2256920
GO:0020037	Function	Heme binding	IDA	23322723
GO:0032342	Process	Aldosterone biosynthetic process	IBA	21873635
GO:0032342	Process	Aldosterone biosynthetic process	IDA	1741400, 2256920, 23322723
GO:0032342	Process	Aldosterone biosynthetic process	IMP	19342457
GO:0032870	Process	Cellular response to hormone stimulus	IEP	19342457
GO:0034650	Process	Cortisol metabolic process	IBA	21873635
GO:0034651	Process	Cortisol biosynthetic process	IMP	19342457
GO:0034651	Process	Cortisol biosynthetic process	IMP	9703385
GO:0035865	Process	Cellular response to potassium ion	IEP	19342457
GO:0047783	Function	Corticosterone 18-monooxygenase activity	IBA	21873635
GO:0055075	Process	Potassium ion homeostasis	IMP	9838244
GO:0055078	Process	Sodium ion homeostasis	IMP	9838244
GO:0071375	Process	Cellular response to peptide hormone stimulus	IBA	21873635

Other IDs

• MIM: 124080
• HGNC: 2592
• e!Ensembl: ENSG00000179142

Protein

• UniProt ID: P19099
• Protein name: Cytochrome P450 11B2, mitochondrial (Aldosterone synthase) (ALDOS) (Aldosterone-synthesizing enzyme) (CYPXIB2) (Corticosterone 18-monooxygenase, CYP11B2) (EC 1.14.15.5) (Cytochrome P-450Aldo) (Cytochrome P-450C18) (Steroid 11-beta-hydroxylase, CYP11B2) (E
• Protein 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 d
• PDB: 4DVQ, 4FDH, 4ZGX, 6XZ8, 6XZ9, 7M8I, 7M8V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	42 → 499	Cytochrome P450	Domain

• Sequence:

  MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQG
  YEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYR
  QHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNA
  RGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
  PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELS
  LEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATT
  ELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAGTLVQVFLYSLGRNAALFPRP
  ERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
  IKMVYSFILRPGTSPLLTFRAIN

• Sequence length: 503

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Aldosterone synthesis and secretion

Reactome:

Mineralocorticoid biosynthesis
Glucocorticoid biosynthesis
Endogenous sterols
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098
Corticosterone methyl oxidase deficiency	Corticosterone Methyl Oxidase Type I Deficiency, Corticosterone Methyl Oxidase Type II Deficiency	rs121912977, rs121912978, rs72554626, rs121912979, rs771908700, rs771164401, rs539836429	9177280, 24022297, 11238478, 9814506, 12788848, 24022297, 1594605, 9625333, 1346492
Hyperaldosteronism	Hyperaldosteronism, Glucocorticoid-remediable aldosteronism, Familial hyperaldosteronism type I	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595	11085685, 20634641, 24817817
Hypertension	Hypertensive disease	rs13306026, rs13333226	30487518
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	25735316
Renal tubular acidosis	Renal Tubular Acidosis, Type II	rs121908367, rs28939081, rs769664228, rs121912745, rs121912748, rs121912751, rs121912752, rs28931584, rs121912754, rs878853002, rs763982675, rs769164245, rs768446132, rs1443883930, rs754517968, rs1450564765, rs934266733, rs1584907924, rs753232747, rs1584934951

Unknown
Disease name	Disease term	dbSNP ID	References
Adrenal hyperplasia	Adrenal hyperplasia
Cardiovascular diseases	Cardiovascular Diseases		30595370
Conn syndrome	Conn Syndrome		11085685
Hypoaldosteronism	Hypoaldosteronism, Hypoaldosteronism, Hyporeninemic, Familial hypoaldosteronism		11238478
Prostatic neoplasms	Prostatic Neoplasms		25735316
Secretory adrenocortical adenoma	Secretory adrenocortical adenoma