Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	1585
Gene name Gene Name - the full gene name approved by the HGNC.	Cytochrome P450 family 11 subfamily B member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CYP11B2
Synonyms (NCBI Gene) Gene synonyms aliases	ALDOS, CPN2, CYP11B, CYP11BL, CYPXIB2, P-450C18, P450C18, P450aldo
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(13)

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

Show/Hide all(108)

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

Show/Hide all(5)

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

Show/Hide all(47)

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:0004497	Function	Monooxygenase activity	IEA
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IBA
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IDA	1741400, 2256920, 23322723
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IEA
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	1741400, 2256920
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IC	2256920
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006700	Process	C21-steroid hormone biosynthetic process	IDA	2256920
GO:0006700	Process	C21-steroid hormone biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	IBA
GO:0006705	Process	Mineralocorticoid biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008395	Function	Steroid hydroxylase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IC	2256920
GO:0020037	Function	Heme binding	IDA	23322723
GO:0020037	Function	Heme binding	IEA
GO:0032342	Process	Aldosterone biosynthetic process	IBA
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
GO:0034651	Process	Cortisol biosynthetic process	IMP	9703385
GO:0034651	Process	Cortisol biosynthetic process	IMP	19342457
GO:0035865	Process	Cellular response to potassium ion	IEP	19342457
GO:0046872	Function	Metal ion binding	IEA
GO:0047783	Function	Corticosterone 18-monooxygenase activity	IBA
GO:0047783	Function	Corticosterone 18-monooxygenase activity	IEA
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

MIM	HGNC	e!Ensembl
124080	2592	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

Tissue specificity

TISSUE SPECIFICITY: Expressed sporadically in the zona glomerulosa (zG) of the adrenal cortex (conventional zonation), as well as in aldosterone-producing cell clusters (APCCs) composed of morphological zG cells in contact with the capsule (variegated zon

Sequence

MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQG
YEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYR
QHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNA
RGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELS
LEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATT
ELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAGTLVQVFLYSLGRNAALFPRP
ERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
IKMVYSFILRPGTSPLLTFRAIN

Sequence length

503

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways Aldosterone synthesis and secretion		Mineralocorticoid biosynthesis Glucocorticoid biosynthesis Endogenous sterols Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Corticosterone Methyl Oxidase Deficiency	Corticosterone methyloxidase type 2 deficiency, corticosterone methyl oxidase type ii deficiency	rs72554626, rs121912979, rs771908700, rs771164401, rs539836429, rs121912977, rs121912978	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hyperaldosteronism	glucocorticoid-remediable aldosteronism	N/A	N/A	ClinVar
Hypertension	Hypertension, Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Hypoaldosteronism	familial hyperreninemic hypoaldosteronism type 2	N/A	N/A	GenCC

Show/Hide Text Mining Associations (98)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
18 Hydroxylase deficiency	Associate	22565077, 23018980, 25102047, 27125267, 30864636, 32539318, 32857717, 37827219, 7485152
Abnormalities Drug Induced	Associate	10636255
ACTH Secreting Pituitary Adenoma	Associate	24837548, 27165862, 28368480, 34534321
Adenoma	Associate	23102075, 24842915, 26765578, 27165862, 27514282, 28368480, 32921192, 36960396
Adrenal Cortex Neoplasms	Associate	28388725
Adrenal Gland Neoplasms	Associate	21521926, 26765578, 27403928, 30085035, 30354720
Adrenal Hyperplasia Congenital	Associate	34616364, 40091330
Adrenal Insufficiency	Associate	32857717, 34243750
Adrenal Rest Tumor	Associate	32791542
Adrenocortical Adenoma	Associate	25120827, 26549209, 26765578, 27165862, 29665181, 31789380
Adrenocortical Carcinoma	Associate	32791542, 35185794
Alopecia	Associate	35279334
Aphakia congenital primary	Associate	34534321
Asymptomatic Infections	Associate	21521926
Atherosclerosis	Associate	15055249, 23135028
Atrial Fibrillation	Associate	21846681, 23209837, 23936266, 25723521, 30058705
Atrial Remodeling	Associate	21846681
Bartter Syndrome	Associate	24472523
Breast Neoplasms	Associate	17436274
Calcinosis	Associate	28515448
Cardio Renal Syndrome	Associate	30695674
Cardiomegaly	Associate	25351194
Cardiomyopathies	Associate	21546879
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	25890613
Cardiomyopathy Hypertrophic	Associate	17318792
Cardiovascular Diseases	Associate	15055249, 25890613, 30561227, 32938270, 37827219, 38573093
Carotid Artery Diseases	Associate	20123934
Cerebral Infarction	Associate	20176774, 23135028
Cerebral Small Vessel Diseases	Associate	23135028
Chronic Disease	Associate	23681285
Chronic Kidney Disease Mineral and Bone Disorder	Associate	30695674
Congenital adrenal hyperplasia due to 11 Beta hydroxylase deficiency	Associate	2022736, 35685215, 38027139
Congenital central hypoventilation syndrome	Associate	35685215, 38027139
Coronary Artery Disease	Associate	26941570, 32938270
Coronary Restenosis	Associate	12205735, 34065198
Cushing Syndrome	Associate	12358151, 27165862
Death	Associate	16979018, 30974191
Diabetes Mellitus	Associate	11687612, 12205735, 24549414, 25957425, 32857720
Diabetes Mellitus Type 2	Associate	24549414, 32857720, 38478114
Diabetic Nephropathies	Associate	25957425
Eclampsia	Associate	33155189
Essential Hypertension	Associate	11856349, 12611423, 14736447, 17190732, 19093739, 20966514, 21269059, 21846681, 24015270, 25890613, 26305278, 27149293, 27935319, 28078278, 28953657 View all (4 more)
Failure to Thrive	Associate	32539318
Familial Hyperaldosteronism	Associate	27793677
Fetal Growth Retardation	Associate	39218008
Fibrosis	Stimulate	14736447
Focal Nodular Hyperplasia	Associate	30354720
Frailty	Associate	39464190
Genetic Diseases Inborn	Associate	34232123, 37827219
Glomerulonephritis	Associate	23681285
Glomerulonephritis IGA	Associate	21476902, 23681285
Glomerulonephritis Membranoproliferative	Associate	23681285
Glomerulonephritis Membranous	Associate	23681285
Glomerulosclerosis Focal Segmental	Associate	23681285
Glucocorticoid Remediable Aldosteronism	Associate	11073536, 20808686, 23938178
Growth Disorders	Associate	32857717
Heart Failure	Associate	16979018, 18279468, 23936266
Heart Failure Diastolic	Associate	34569641
Heart Failure Systolic	Associate	31560448
Heart Murmurs	Associate	18773126, 30945668
Hepatitis C	Associate	33155189
Herpes Zoster	Associate	24837548
Hyperaldosteronism	Associate	1518866, 2040591, 20808686, 21248073, 21546879, 22628608, 23102075, 23257735, 24082052, 24403568, 24472523, 24837548, 24842915, 24866132, 25102047 View all (39 more)
Hyperaldosteronism	Stimulate	26240369
Hyperphosphatemia	Associate	28515448
Hyperplasia	Associate	27514282, 28388725
Hypertension	Associate	11693765, 11728005, 11728946, 15055249, 15097233, 16979018, 19093739, 20176774, 20966514, 21476902, 22184340, 22419662, 23102075, 23135028, 24015270 View all (13 more)
Hypertrophy	Associate	14736447, 17318792
Hypertrophy Left Ventricular	Associate	11693765, 30561227
Hypoaldosteronism	Associate	32857717
Hypokalemia	Associate	29703198
Hypospadias	Associate	22565077
Hypotension	Associate	18773126, 27940662
Hypothyroidism Congenital Nongoitrous 2	Associate	25120827
Immunologic Deficiency Syndromes	Associate	7485152
Insulin Resistance	Associate	22419662
Kidney Failure Chronic	Associate	11422735, 24977181
Meningioma	Associate	30974191
Muscular Dystrophy Congenital Producing Arthrogryposis	Associate	26765578
Neoplasms	Associate	12358151, 24423307, 24837548, 24842915, 26549209, 26765578, 27165862, 27430645, 31789380, 9447288
Nephrosis Lipoid	Associate	23681285
Obesity	Associate	39464190
Oculocerebrorenal Syndrome	Associate	25102047
Pheochromocytoma	Associate	39596027
Plaque Atherosclerotic	Associate	20123934
Post Exercise Hypotension	Associate	27940662
Pre Eclampsia	Associate	19151144
Primary cortisol resistance	Associate	34534321
Prolactinoma	Associate	26176803
Pulmonary Arterial Hypertension	Associate	11693765, 34796008
Pulmonary edema of mountaineers	Associate	22156739, 26436397
Renal Artery Obstruction	Associate	35259553
Renal Insufficiency Chronic	Associate	16672053, 25957425, 30695674, 31924810, 32857720
Stiff Skin Syndrome	Associate	26222001
Stroke	Associate	20176774, 23135028, 30695674, 32938270
Taste Disorders	Associate	34243750, 37827219
Ventricular Fibrillation	Associate	14736447
Wounds and Injuries	Associate	31646588

CYP11B2 (cytochrome P450 family 11 subfamily B member 2)