• Gene id: 1585

Gene Summary

• Gene Symbol: CYP11B2   Gene   UCSC   Ensembl
• Aliases: ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo
• Gene name: cytochrome P450 family 11 subfamily B member 2
• Alternate names: cytochrome P450 11B2, mitochondrial, aldosterone synthase, aldosterone-synthesizing enzyme, cytochrome P-450Aldo, cytochrome P-450C18, cytochrome P450, family 11, subfamily B, polypeptide 2, cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), po,
• Gene location: 8q24.3 (142917842: 142910558)     Exons: 9     NC_000008.11
• 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: 124080

Protein Summary

• Protein general information: P19099  
  • Name: Cytochrome P450 11B2, mitochondrial (Aldosterone synthase) (ALDOS) (EC 1.14.15.4) (EC 1.14.15.5) (Aldosterone synthesizing enzyme) (CYPXIB2) (Cytochrome P 450Aldo) (Cytochrome P 450C18) (Steroid 18 hydroxylase)
  • Length: 503  
  • Mass: 57,560
• Sequence:

  MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQGYEHLHLEMHQTFQEL
  GPIFRYNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYRQHRGHKCGVFLLNGPEWRFNRLRLNPDVLS
  PKAVQRFLPMVDAVARDFSQALKKKVLQNARGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLH
  ALEVMFKSTVQLMFMPRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELS
  LEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATTELPLLRAALKETLRL
  YPVGLFLERVVSSDLVLQNYHIPAGTLVQVFLYSLGRNAALFPRPERYNPQRWLDIRGSGRNFHHVPFGFGMRQC
  LGRRLAEAEMLLLLHHVLKHFLVETLTQEDIKMVYSFILRPGTSPLLTFRAIN

• Structural information:
  • Interpro: IPR001128  IPR017972  IPR002399  IPR036396  
  • Prosite: PS00086
  • PDB: 4DVQ 4FDH 4ZGX
  • PDBsum: 4DVQ 4FDH 4ZGX
  • STRING: ENSP00000325822
• Other Databases: GeneCards:  CYP11B2  Malacards:  CYP11B2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002017	regulation of blood volume by renal aldosterone	IMP	biological process
GO:0003091	renal water homeostasis	IC	biological process
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IC	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032342	aldosterone biosynthetic process	IMP	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0035865	cellular response to potassium ion	IEP	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0047783	corticosterone 18-monooxygenase activity	IBA	molecular function
GO:0055075	potassium ion homeostasis	IMP	biological process
GO:0055078	sodium ion homeostasis	IMP	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0002017	regulation of blood volume by renal aldosterone	IMP	biological process
GO:0003091	renal water homeostasis	IC	biological process
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004497	monooxygenase activity	IEA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IEA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	TAS	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:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IC	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032342	aldosterone biosynthetic process	IMP	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0035865	cellular response to potassium ion	IEP	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0047783	corticosterone 18-monooxygenase activity	IEA	molecular function
GO:0047783	corticosterone 18-monooxygenase activity	IBA	molecular function
GO:0055075	potassium ion homeostasis	IMP	biological process
GO:0055078	sodium ion homeostasis	IMP	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0002017	regulation of blood volume by renal aldosterone	IMP	biological process
GO:0003091	renal water homeostasis	IC	biological process
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	molecular function
GO:0004507	steroid 11-beta-monooxygenase activity	TAS	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0005743	mitochondrial inner membrane	IC	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006700	C21-steroid hormone biosynthetic process	IDA	biological process
GO:0006705	mineralocorticoid biosynthetic process	TAS	biological process
GO:0008203	cholesterol metabolic process	IBA	biological process
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0008395	steroid hydroxylase activity	TAS	molecular function
GO:0016125	sterol metabolic process	TAS	biological process
GO:0016709	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen	IBA	molecular function
GO:0020037	heme binding	IC	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032342	aldosterone biosynthetic process	IMP	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032342	aldosterone biosynthetic process	IDA	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process
GO:0035865	cellular response to potassium ion	IEP	biological process
GO:0044550	secondary metabolite biosynthetic process	IBA	biological process
GO:0047783	corticosterone 18-monooxygenase activity	IBA	molecular function
GO:0055075	potassium ion homeostasis	IMP	biological process
GO:0055078	sodium ion homeostasis	IMP	biological process
GO:0071375	cellular response to peptide hormone stimulus	IBA	biological process
GO:0034651	cortisol biosynthetic process	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04925	Aldosterone synthesis and secretion

Diseases

Associated diseases	References
Adrenal cortex neoplasms	GAD: 20339375
Cancer (glaucoma)	GAD: 15914614
Cancer (lymphoma)	GAD: 18636124
Cancer (prostate)	GAD: 16638864
Cancer (breast)	GAD: 15102677
Apoplexy	GAD: 20176774
Atherosclerosis	GAD: 12446192
Atrial fibrillation	GAD: 18638595
Cerebrovascular disease	GAD: 11245725
Hypertension	GAD: 15824464
Coronary heart disease	GAD: 15824464
Cardiovascular disease	GAD: 11975906
Restenosis	GAD: 12205735
Conn's syndrome	GAD: 11422106
Hypoaldosteronism	OMIM: 124080
Glaucoma	GAD: 15914614
Rheumatoid arthritis	GAD: 16207322
Diabetes	GAD: 16672053
Metabolic syndrome	GAD: 17261471
Alzheimer's disease	GAD: 19141999
Chronic renal failure	GAD: 21085059
Kidney diseases	GAD: 15662219
Polycystic ovary syndrome (PCOS)	GAD: 12783697
Preeclampsia	GAD: 16303227
17 alpha-hydroxylase deficiency	INFBASE: 11422109
Bilateral testicular hypertrophy	MIK: 3501279
Congenital adrenal hyperplasia	MIK: 3501279
Connective tissue diseases	GAD: 19332265
Glucocorticoid-remediable aldosteronism	KEGG: H00602
Renal disease	GAD: 11422735
Nephropathy	GAD: 15532370
Bilateral testicular hypertrophy	MIK: 3501279
Congenital adrenal hyperplasia	MIK: 3501279
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
3501279	Bilateral testicular hypertrophy, congenital adrenal hyperplasia			1 boy with congenital adrenal hyperplasia (11-beta-hydroxylase deficiency) and bilateral testicular hypertrophy	Male infertility
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq