Gene Gene information from NCBI Gene database.
Entrez ID 1585
Gene name Cytochrome P450 family 11 subfamily B member 2
Gene symbol CYP11B2
Synonyms (NCBI Gene)
ALDOSCPN2CYP11BCYP11BLCYPXIB2P-450C18P450C18P450aldo
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 information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
108
miRTarBase ID miRNA Experiments Reference
MIRT029873 hsa-miR-26b-5p Microarray 19088304
MIRT053238 hsa-miR-24-3p Luciferase reporter assayqRT-PCR 23836801
MIRT053238 hsa-miR-24-3p Luciferase reporter assayqRT-PCR 23836801
MIRT053238 hsa-miR-24-3p Luciferase reporter assayqRT-PCR 23836801
MIRT442089 hsa-miR-3607-5p PAR-CLIP 22291592
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
APEX1 Repression 22652909
ATF1 Unknown 11196473
ATF2 Unknown 11196473
CREB1 Unknown 11196473
NR5A1 Repression 21169726
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
124080 2592 ENSG00000179142
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 503
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
640
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Corticosterone 18-monooxygenase deficiency Likely pathogenic; Pathogenic rs746842822, rs1817612031, rs1442525444, rs1351295710, rs1160313950, rs774041613, rs770593140, rs1396377821, rs746973873, rs1056722915, rs2488699111, rs2130336602, rs72554627, rs121912977, rs121912978
View all (7 more)
RCV005050508
RCV002506952
RCV002479578
RCV002267703
RCV005045184
RCV005045186
RCV005044933
RCV005047593
RCV005047776
RCV005040563
RCV005040577
RCV000018374
RCV000018375
RCV000018376
RCV002496398
RCV001271158
RCV002501103
RCV002497435
RCV005047250
RCV002497350
RCV005050305
RCV005040095
Corticosterone methyl oxidase type II deficiency Likely pathogenic; Pathogenic rs2130334875, rs765802331, rs1205192306, rs2488700399, rs121912977, rs121912978, rs771164401, rs539836429, rs774948236 RCV001826123
RCV001831395
RCV005614730
RCV005616738
RCV001271156
RCV001826477
RCV001271161
RCV001832369
RCV001830005
Corticosterone methyloxidase type 2 deficiency Likely pathogenic; Pathogenic rs746842822, rs1817612031, rs1442525444, rs1160313950, rs774041613, rs770593140, rs1191402804, rs1396377821, rs746973873, rs1056722915, rs2488699111, rs121912977, rs121912978, rs72554626, rs121912979
View all (8 more)
RCV002250796
RCV002506952
RCV002479578
RCV005045184
RCV005045186
RCV005044933
RCV003153059
RCV005047593
RCV005047776
RCV005040563
RCV005040577
RCV002250462
RCV000018377
RCV000018381
RCV000018382
RCV001535987
RCV005359586
RCV002501103
RCV002497435
RCV005047250
RCV002497350
RCV005050305
RCV005040095
CYP11B2-related disorder Pathogenic; Likely pathogenic rs2130324802, rs762727830, rs1351295710, rs1160313950, rs781244906, rs771908700, rs1396377821, rs748967395, rs760329766, rs4538, rs2488698556, rs1817544823, rs772456092, rs376248857, rs1586573244
View all (1 more)
RCV003463016
RCV003464321
RCV003464423
RCV003459719
RCV003459926
RCV003459927
RCV003459929
RCV003459930
RCV003459932
RCV003459933
RCV003459934
RCV003459936
RCV003459937
RCV003459938
RCV003459940
RCV003460485
RCV003461261
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aldosterone to renin ratio, increased association rs1799998 RCV000018379
Early-onset familial hypoaldosteronism Conflicting classifications of pathogenicity rs28931609 RCV004698488
Glucocorticoid-remediable aldosteronism Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs886062739, rs570202161, rs375938097, rs9297975, rs3097, rs5313, rs61757295, rs373369254, rs201830462, rs4543, rs4537, rs563246146, rs752962897, rs144140791, rs551933154
View all (76 more)
RCV000333731
RCV000396774
RCV000380143
RCV000384561
RCV000301190
RCV000266476
RCV000382899
RCV000284201
RCV000309020
RCV000311623
RCV000351587
RCV000293062
RCV000353934
RCV000361561
RCV000273132
RCV000382714
RCV000333354
RCV000395978
RCV000331401
RCV000285419
RCV000376315
RCV000298335
RCV000289331
RCV000272062
RCV000274392
RCV000263084
RCV000323926
RCV000315985
RCV000306272
RCV000300100
RCV000374420
RCV000291822
RCV000394920
RCV000262816
RCV000366392
RCV000262745
RCV000278118
RCV000309100
RCV000307908
RCV000396255
RCV000263179
RCV000340999
RCV000277997
RCV000370370
RCV000259713
RCV000284409
RCV000295178
RCV001162098
RCV000294441
RCV000375942
RCV000396937
RCV000302342
RCV000275819
RCV000372642
RCV000395007
RCV000327248
RCV000260232
RCV000268061
RCV000321492
RCV000345330
RCV001160767
RCV001162584
RCV001160465
RCV001164638
RCV001159608
RCV001162181
RCV001158810
RCV001158814
RCV001163537
RCV001163836
RCV001163838
RCV001158918
RCV001163624
RCV001163628
RCV001162010
RCV001162012
RCV001164019
RCV001159108
RCV001159111
RCV001160468
RCV001162101
RCV001159213
RCV001159307
RCV001162286
RCV001164317
RCV001160765
RCV001162490
RCV001164534
RCV001159610
RCV001160997
RCV001159114
RCV001162102
Hypoaldosteronism, congenital Conflicting classifications of pathogenicity rs372556807, rs369953763 RCV005252870
RCV005645246
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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