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CYP11B2 Gene

protein-coding GIFtS: 61
GCID: GC08M143988

Cytochrome P450, Family 11, Subfamily B, Polypeptide 2

(Previous names: cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase),...)
(Previous symbol: CYP11B)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Cytochrome P450, Family 11, Subfamily B, Polypeptide 2¹ ²		CYP11BL²
CYP11B¹ ²		P-450C18²
Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 2¹ ²		P450C18²
Steroid 11-Beta-Monooxygenase¹ ²		P450aldo²
Aldosterone Synthase² ³		Cytochrome P450 11B2, Mitochondrial²
Aldosterone-Synthesizing Enzyme² ³		Mitochondrial Cytochrome P450, Family 11, Subfamily B, Polypeptide 2²
Cytochrome P-450Aldo² ³		Steroid 11-Beta/18-Hydroxylase²
Cytochrome P-450C18² ³		Steroid 18-Hydroxylase, Aldosterone Synthase, P450C18, P450aldo²
ALDOS² ³		EC 1.14.15.5³
CYPXIB2² ³		Steroid 18-Hydroxylase³
EC 1.14.15.4³ ⁸		EC 1.14.15⁸
CPN2²

External Ids:	HGNC: 2592¹	Entrez Gene: 1585²	Ensembl: ENSG00000179142⁷	OMIM: 124080⁵	UniProtKB: P19099³

Export aliases for CYP11B2 gene to outside databases

Previous GC identifers: GC08U990015 GC08M144225 GC08M143796 GC08M144054 GC08M139244

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP11B2 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 localizes to the mitochondrial inner membrane. The enzyme has steroid

18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase

activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. (provided by RefSeq, Jul 2008)

GeneCards Summary for CYP11B2 Gene:

CYP11B2 (cytochrome P450, family 11, subfamily B, polypeptide 2) is a protein-coding gene. Diseases associated with CYP11B2 include corticosterone methyloxidase deficiency, and hypoaldosteronism, congenital, due to cmo ii deficiency. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP19A1.

UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099

Function: Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and

18-hydroxycorticosterone

Gene Wiki entry for CYP11B2 (Aldosterone synthase) Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000008.11 NC_018919.2 NT_008046.17

Regulatory elements:

Regulatory transcription factor binding sites in the CYP11B2 gene promoter:
NF-1 NF-1/L HSF1 (long) Lmo2 Roaz YY1 CREB deltaCREB HSF1short ZID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CYP11B2 promoter sequence

Search Chromatin IP Primers for CYP11B2

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP11B2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q21-q22 Ensembl cytogenetic band: 8q24.3 HGNC cytogenetic band: 8q21-q22

CYP11B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP11B2 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M143988: view genomic region (about GC identifiers)

Start:	143,991,975 bp from pter	End:	143,999,259 bp from pter
Size:	7,285 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099 (See protein sequence)

Recommended Name: Cytochrome P450 11B2, mitochondrial precursor

Size: 503 amino acids; 57560 Da

Cofactor: Heme group

2 PDB 3D structures from and Proteopedia for CYP11B2:

4DVQ (3D)

4FDH (3D)

Secondary accessions: B0ZBE4 Q16726

Explore the universe of human proteins at neXtProt for CYP11B2: NX_P19099

Explore proteomics data for CYP11B2 at MOPED

Selected DME Specific Peptides for CYP11B2 (P19099) (see all 6)

RQCLGRR

IPAGTLV

AGSVDTT

GVFLLNGPEW

See CYP11B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000489.3

ENSEMBL proteins:

ENSP00000325822

Reactome Protein details: P19099

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

CYP: Cytochrome P450s

IUPHAR Guide to PHARMACOLOGY protein family classification: CYP11B2

CYP11, CYP17, CYP19, CYP20 and CYP21 families

3 InterPro protein domains:

IPR001128 Cyt_P450

IPR017972 Cyt_P450_CS

IPR002399 Cyt_P450_mitochondrial

Graphical View of Domain Structure for InterPro Entry P19099

ProtoNet protein and cluster: P19099

1 Blocks protein domain: IPB002399 Mitochondrial P450 clan signature

UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099

Similarity: Belongs to the cytochrome P450 family

CYP11B2 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: C11B2_HUMAN, P19099

Function: Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and

18-hydroxycorticosterone

Catalytic activity: A steroid + reduced adrenodoxin + O(2) = an 11-beta-hydroxysteroid + oxidized adrenodoxin +

H(2)O

Catalytic activity: Corticosterone + reduced adrenodoxin + O(2) = 18-hydroxycorticosterone + oxidized adrenodoxin

+ H(2)O

Genatlas biochemistry entry for CYP11B2:

cytochrome p450,subfamily XIB,multifunctional enzyme with 18 hydroxylase,18 hydroxysteroid dehydrogenase and

accessorily 11 beta-hydroxylase activity,mitochondrial,involved in mineralocorticoid biosynthesis,stimulated by

angiotensin II and potassium,expressed in zona glomerulosa of the adrenal cortex

Enzyme Numbers (IUBMB): EC 1.14.15.4¹ ² EC 1.14.15² EC 1.14.15.5¹

Gene Ontology (GO): 5 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004507	steroid 11-beta-monooxygenase activity	IDA	1741400
GO:0005506	iron ion binding	IEA	--
GO:0016705	oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	--	--
GO:0020037	heme binding	IDA	--
GO:0047783	corticosterone 18-monooxygenase activity	IEA	--

CYP11B2 for ontologies About GeneDecksing

Phenotypes:
9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Cyp11b2):

behavior/neurological	cardiovascular system	cellular	endocrine/exocrine gland	growth/size/body
homeostasis/metabolism	mortality/aging	muscle	renal/urinary system

CYP11B2 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Cyp11b2^tm1Hsk for CYP11B2

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP11B2

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP11B2

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

C11B2_HUMAN, P19099: Mitochondrion membrane

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
cytosol	2
extracellular	2
nucleus	2

About this image

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	1741400
GO:0005743	mitochondrial inner membrane	TAS	--

CYP11B2 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for CYP11B2 About (see all 7)

See pathways by source

SuperPath

Contained pathways About

Cytochrome P450 - arranged by substrate type

	Cytochrome P450 - arranged by substrate type	0.75			cytochrome P450	0.74
	Phase 1 - Functionalization of compounds	0.75			Endogenous sterols	0.00

Metabolism of steroid hormones and vitamin D

	Mineralocorticoid biosynthesis	0.00			mineralocorticoid biosynthesis	0.00
	Metabolism of steroid hormones and vitamin D			Glucocorticoid biosynthesis	0.00

Metabolism

	Metabolism	0.38			Metabolism of lipids and lipoproteins	0.37
	Metabolic pathways	0.38

Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics	0.37			ACE Inhibitor Pathway	0.00
	ACE Inhibitor Pathway, Pharmacodynamics	0.00

Biological oxidations

Biological oxidations

0.56

metapathway biotransformation

0.42

Pathways by source See SuperPaths
Show all pathways

Selected BioSystems Pathways for CYP11B2 (see all 6)

	ACE Inhibitor Pathway
	cytochrome P450
	mineralocorticoid biosynthesis
	superpathway of steroid hormone biosynthesis
	metapathway biotransformation

3 Reactome Pathways for CYP11B2

	Endogenous sterols
	Mineralocorticoid biosynthesis
	Glucocorticoid biosynthesis

2 PharmGKB Pathways for CYP11B2

	ACE Inhibitor Pathway, Pharmacodynamics
	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics

2 Kegg Pathways (Kegg details for CYP11B2):

	Steroid hormone biosynthesis
	Metabolic pathways

CYP11B2 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Arrays including CYP11B2:

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Drug Metabolism in human mouse rat

Interactions:

GeneGlobe Interaction Network for CYP11B2

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

Selected Interacting proteins for CYP11B2 (P19099³ ENSP00000325822⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CYP11B1	P15538³, ENSP00000292427⁴	I2D: score=1 STRING: ENSP00000292427
FDX1	P10109³, ENSP00000260270⁴	I2D: score=1 STRING: ENSP00000260270
CYP11A1	P05108³, ENSP00000268053⁴	I2D: score=1 STRING: ENSP00000268053
AKR1D1	ENSP00000242375⁴	STRING: ENSP00000242375
ENSG00000232414	ENSP00000416598⁴	STRING: ENSP00000416598

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Gene Ontology (GO): Selected biological process terms (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002017	regulation of blood volume by renal aldosterone	IMP	14614232
GO:0003091	renal water homeostasis	IC	2256920
GO:0006700	C21-steroid hormone biosynthetic process	IDA	2256920
GO:0006705	mineralocorticoid biosynthetic process	TAS	--
GO:0006805	xenobiotic metabolic process	TAS	--

CYP11B2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for CYP11B2 (C11B2)

Selected HMDB Compounds for CYP11B2 (see all 22) About this table

Compound	Synonyms	CAS #	PubMed Ids
11b,17a,21-Trihydroxypreg-nenolone	11beta,17alpha,21-Trihydroxypregnenolone (see all 2)	--	--
11b-Hydroxyandrost-4-ene-3,17-dione	Androst-4-ene-3,17-dione-11beta-ol (see all 3)	382-44-5	--
11b-Hydroxyprogesterone	11b-Hydroxyprogesterone (see all 7)	600-57-7	--
11beta-Hydroxyprogesterone		--	--
17-Hydroxyprogesterone	17-OHP (see all 15)	68-96-2	--
17a,21-Dihydroxypreg-nenolone	17alpha,21-Dihydroxypregnenolone (see all 2)	1167-48-2	--
18-Hydroxycorticosterone	11b,18,21-trihydroxy-pregn-4-ene-3,20-dione (see all 2)	561-65-9	--
19-Hydroxydeoxycorticosterone	11-deoxy-19-hydroxycorticosterone;11-desoxy-19-hydroxycorticosterone;19,21-dihydroxy-4-pregnene-3,20-dione;19,21-dihydroxypregn-4-ene-3,20-dione;19-Hydroxy-11-deoxycorticosterone;19-Hydroxy-11-desoxycorticosterone	2394-23-2	--
19-Oxo-deoxycorticosterone	21-hydroxy-19-oxopregn-4-ene-3,20-dione	75220-37-0	--
19-oic-deoxycorticosterone	21-hydroxy-3,20-dioxopregn-4-en-19-oic acid anion (see all 3)	81309-33-3	--

7 DrugBank Compounds for CYP11B2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Metyrapone	Mepyrapone (see all 9)	54-36-4	enzyme	inhibitor	9231789 17646925
Aldosterone	(+)-aldosterone (see all 18)	52-39-1	enzyme	substrate	19934256
Eplerenone	--	107724-20-9	enzyme	inhibitor	19934256
Etomidate	--	33125-97-2	enzyme	inhibitor	19934256
Hydrocortisone	11beta-Hydroxycortisone (see all 16)	50-23-7	enzyme	substrate	19934256
Metoclopramide	Metaclopramide (see all 9)	364-62-5	enzyme	inducer	19934256
Mibefradil	--	116644-53-2	enzyme	inhibitor	19934256

Selected Novoseek inferred chemical compound relationships for CYP11B2 gene (see all 63) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
18-hydroxycortisol	91.6	4	15062555 (2), 9814482 (1), 18505761 (1)
18-hydroxycorticosterone	91.2	21	11549669 (2), 7852500 (1), 2256920 (1), 10411633 (1) (see all 9)
18-oxocortisol	90.9	5	9814482 (1), 17381495 (1), 18505761 (1), 1741400 (1)
doca	89.6	28	1775135 (2), 11549669 (2), 8077359 (1), 7852500 (1) (see all 21)
tetrahydroaldosterone	88.1	1	19151144 (1)
11 deoxycortisol	86.3	6	9814482 (1), 10559665 (1), 9698019 (1), 15522937 (1) (see all 6)
18-hydroxydeoxycorticosterone	76.7	4	11549669 (3)
corticosterone	74.8	34	7852500 (2), 11275950 (2), 8077359 (1), 15947886 (1) (see all 22)
fludrocortisone	72.5	1	15782303 (1)
tetrahydro-11-deoxycortisol	71.8	1	15134824 (1)

CYP11B2 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for CYP11B2 gene:

NM_000498.3

Unigene Cluster for CYP11B2:

Cytochrome P450, family 11, subfamily B, polypeptide 2

Hs.632054 [show with all ESTs]

Unigene Representative Sequence: NM_000498

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000323110(uc003yxk.1)

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		QuantiFast Probe-based Assays in human, mouse, rat CYP11B2

Additional mRNA sequence: X54741.1

1 DOTS entry:

DT.95080617

10 AceView cDNA sequences:

BV199117 T28774 BV183624 BV198798 BV198800 NM_000498 X54741 BV195495

AV710391 BF791620

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CYP11B2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GGAAAGGAAT

About this image

CYP11B2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CYP11B2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632054

Pathway & Disease-focused RT² Profiler PCR Arrays including CYP11B2:

Drug Metabolism: Phase I Enzymes in human mouse rat

Cellular Stress Responses in human mouse rat

Drug Metabolism in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for CYP11B2
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP11B2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for CYP11B2 gene from Selected species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cyp11b2⁵ Cyp11b1¹	cytochrome P450, family 11, subfamily b, polypeptide 2 less⁵ cytochrome P450, family 11, subfamily b, polypeptide 1 less¹	73.48(n)¹ 64.93(a)¹		15 (34.29 cM)⁵ 110115¹ NM_001033229.3¹ NP_001028401.2¹ 74851010⁵
lizard (Anolis carolinensis)	Reptilia	--	Uncharacterized protein	50(a)	1 → many	AAWZ02036987(3866-16154)
zebrafish (Danio rerio)	Actinopterygii	cyp11c1⁶	cytochrome P450, family 11, subfamily C, polypepti...	33(a)	1 → many	16(57904611-57917200) ENSDARG00000042014
fruit fly (Drosophila melanogaster)	Insecta	Cyp12c1³	cytochrome P450	31(a) (best of 2)		75D6 --
worm (Caenorhabditis elegans)	Secernentea	ccp-44³	cytochrome p450	27(a)		II(5504020-5505870) --

ENSEMBL Gene Tree for CYP11B2 (if available)
TreeFam Gene Tree for CYP11B2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for CYP11B2 gene

CYP19A1² CYP11B1² CYP24A1² CYP46A1² CYP27B1² CYP11A1² CYP27A1² CYP27C1²

5 SIMAP similar genes for CYP11B2 using alignment to 3 protein entries: C11B2_HUMAN (see all proteins):

CYP11B1 CYP11A1 CYP27B1 CYP27C1 CYP24A1

CYP11B2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_001268⁴		Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency)⁴	--	see VAR_001268	2	E D	mis⁴		0	--	--	--	--
VAR_018472⁴		Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)⁴	--	see VAR_018472	2	L P	mis⁴		0	--	--	--	--
rs4541^1,2,4		Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency)⁴	--	see VAR_001269	2		mis⁴		0	--	--	--	--
VAR_018473⁴		Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency)⁴	--	see VAR_018473	2	T A	mis⁴		0	--	--	--	--
VAR_018471⁴		Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency)⁴	--	see VAR_018471	2	T I	mis⁴		0	--	--	--	--
rs72554626^1,2	C	pathogenic¹	144267999(-)	`TCCTCA/GCTTTC`	2	T A	mis¹		0	--	--	--	--
rs72554627^1,2	C	pathogenic¹	144268545(-)	`GATGCC/TGCTGC`	2	P L	mis¹		0	--	--	--	--
rs61757294^1,2	C,F	pathogenic¹	144268849(+)	`AGCTCA/GCCACT`	2	A V	mis¹		5		NS CSA NA EU	6074
rs121912977^1,2	C	pathogenic¹	144270740(-)	`GGAAGG/TAGCAC`	2	E *	stg¹		1		NA	4516
rs104894072^1,2	C	pathogenic¹	144271046(-)	`ATAGAA/CGGTGT`	2	E D	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CYP11B2 (143991975 - 143999259 bp)

Structural Variations
Database of Genomic Variants (DGV) 7 variations for CYP11B2: About this table

Variant ID	Type	Subtype	PubMed ID
esv2673440	CNV	Deletion	23128226
esv991235	CNV	Deletion	20482838
esv2737938	CNV	Deletion	23290073
nsv436586	CNV	Deletion	17901297
esv2661137	CNV	Deletion	23128226
nsv891648	CNV	Loss	21882294
nsv470246	CNV	Loss	18288195

Human Gene Mutation Database (HGMD): CYP11B2

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing CYP11B2

DNA2.0 Custom Variant and Variant Library Synthesis for CYP11B2

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 124080
OMIM disorders: 610600 203400
UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099

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. Note=The

disease is caused by mutations affecting the gene represented in this entry

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.

Note=The disease is caused by mutations affecting the gene represented in this entry

Familial hyperaldosteronism 1 (FH1) [MIM:103900]: A disorder characterized by hypertension, variable

hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol.

There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease

is caused by mutations affecting the gene represented in this entry. The molecular defect causing

hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has

the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2

Selected diseases for CYP11B2 (see all 65):
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corticosterone methyloxidase deficiency hypoaldosteronism, congenital, due to cmo ii deficiency low renin hypertension 18 hydroxylase deficiency

aldosterone to renin ratio raised corticosterone methyloxidase type ii deficiency familial hyperreninemic hypoaldosteronism type 2 hypoaldosteronism

hypoaldosteronism, congenital, due to cmo i deficiency 11-beta-hydroxylase deficiency glucocorticoid-remediable aldosteronism aortic coarctation

11-beta-hydroxylase-deficient congenital adrenal hyperplasia hyperaldosteronism familial hyperaldosteronism conn's syndrome

systolic heart failure liddle syndrome congenital adrenal hyperplasia pulmonary edema

7 diseases from the University of Copenhagen DISEASES database for CYP11B2:

Hyperaldosteronism Conn's syndrome Hypertension Adenoma

Hypokalemia Adrenocortical carcinoma Cushing's syndrome

CYP11B2 for disorders About GeneDecksing

Selected Novoseek inferred disease relationships for CYP11B2 gene (see all 42) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glucocorticoid-remediable aldosteronism	93.7	15	11600544 (2), 18505761 (1), 8954032 (1), 10843166 (1) (see all 10)
cmo i deficiency	92.8	4	7852500 (1), 8439335 (1), 9177280 (1)
hyperaldosteronism	90	21	10914997 (2), 15062555 (1), 18505761 (1), 9745430 (1) (see all 16)
hypoaldosteronism	88.5	21	11701710 (3), 11422109 (2), 16733366 (2), 7852500 (1) (see all 10)
aldosteronism primary	88	25	2256920 (2), 20339375 (2), 12608705 (2), 11422106 (2) (see all 16)
essential hypertension	78.3	42	15505931 (3), 12444540 (2), 12817181 (2), 16126185 (2) (see all 28)
low renin hypertension	73.5	2	11587161 (1), 8784078 (1)
adrenal hyperplasia congenital	71.1	5	11443188 (1), 11549691 (1), 15134805 (1), 9300202 (1)
adrenal hyperplasia	67.4	3	7758082 (1), 11443188 (1), 15248825 (1)
myocardial fibrosis	65.1	12	11914098 (2), 16220979 (2), 16246562 (1), 16570918 (1) (see all 5)

Genetic Association Database (GAD): CYP11B2
Human Genome Epidemiology (HuGE) Navigator: CYP11B2 (189 documents)

Export disorders for CYP11B2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CYP11B2 gene, integrated from 10 sources (see all 522):
(articles sorted by number of sources associating them with CYP11B2)

Utopia: connect your pdf to the dynamic
world of online information

Haplotypes of aldosterone synthase (CYP11B2) gene in the general population of Japan: the Ohasama study. (PubMed id 11728005)^{1, 4, 9} Matsubara M....Imai Y. (Clin. Exp. Hypertens. 2001)
Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production. (PubMed id 15062555)^{1, 4, 9} Nicod J....Ferrari P. (Mol. Cell. Endocrinol. 2004)
Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450(C18) gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. (PubMed id 8439335)^{1, 2, 9} Mitsuuchi Y.... Shizuta Y. (Biochem. Biophys. Res. Commun. 1993)
[Impact of gene-environment interaction between the C (-344) T polymorphism of CYP11B2 and drinking index on the risk of hypertension under multifactor dimensionality reduction model in Chinese Mongolian population]. (PubMed id 20193236)^{1, 4, 9} Pan X.Q....Tong W.J. (Zhonghua Liu Xing Bing Xue Za Zhi 2009)
Multiple Polymorphisms in the renin- angiotensin-aldosterone system (ACE, CYP11B2, AGTR1) and their contribution to hypertension in African Americans and Latinos in the multiethnic cohort. (PubMed id 15545843)^{1, 4, 9} Henderson S.O....Mack W. (Am. J. Med. Sci. 2004)
CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: the Ohasama study. (PubMed id 15055249)^{1, 4, 9} Matsubara M....Imai Y. (Hypertens. Res. 2004)
The -344T>C promoter variant of the gene for aldosterone synthase (CYP11B2) is not associated with cardiovascular risk in a prospective study of UK healthy men. (PubMed id 15135254)^{1, 4, 9} Payne J.R....Montgomery H.E. (Atherosclerosis 2004)
[Associations of the genetic polymorphisms in CYP11B2 gene with nonfamilial structural atrial fibrillation]. (PubMed id 20193392)^{1, 4, 9} Cao F.F....Jin L. (Zhonghua Liu Xing Bing Xue Za Zhi 2009)
Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects. (PubMed id 17980006)^{1, 4, 9} Freel E.M....Connell J.M. (Clin. Endocrinol. (Oxf) 2008)
Association of the C-344T polymorphism of CYP11B2 gene with essential hypertension in Hani and Yi minorities of China. (PubMed id 16126185)^{1, 4, 9} Tang W....Xiao C. ( international journal of clinical chemistry 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1585	HGNC: 2592	AceView: CYP11B2	Ensembl:ENSG00000179142	euGenes: HUgn1585
ECgene: CYP11B2	Kegg: 1585	H-InvDB: CYP11B2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CYP11B2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYP11B2[genesymbol]
Wikipedia	http://en.wikipedia.org/wiki/CYP11B2

Intellectual Property for CYP11B2 gene
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Patent Information for CYP11B2 gene:
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GeneCards and IP:
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CYP11B2 Gene

Cytochrome P450, Family 11, Subfamily B, Polypeptide 2

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CYP11B2 (Gene Symbol)
Cytochrome P450, Family 11, Subfamily B, Polypeptide 2
CYP11B
Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 2
Steroid 11-Beta-Monooxygenase
Aldosterone Synthase
Aldosterone-Synthesizing Enzyme
Cytochrome P-450Aldo
Cytochrome P-450C18
ALDOS
CYPXIB2
EC 1.14.15.4
CPN2
CYP11BL
P-450C18
P450C18
P450aldo
Cytochrome P450 11B2, Mitochondrial
Mitochondrial Cytochrome P450, Family 11, Subfamily B, Polypeptide 2
Steroid 11-Beta/18-Hydroxylase
Steroid 18-Hydroxylase, Aldosterone Synthase, P450C18, P450aldo
EC 1.14.15.5
Steroid 18-Hydroxylase
EC 1.14.15

Hyponatremia
HYPERTENSION ARTERIAL
genetic hypertension
Genetic Susceptibility
essential hypertension
Hyperplasia
Chronic glomerulonephritis
Hypoaldosteronism
Aldosteronism Primary
Atrial Fibrillation
Addisons Disease
Heart Failure Congestive
low renin hypertension
systemic hypertension
MYOCARDIAL FIBROSIS
GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM
Myocardial Infarction
HEART FAILURE
Carcinoma Adrenocortical
CMO I DEFICIENCY
RENAL DISEASE
Adenoma
Inflammation
Hyperaldosteronism
Proteinuria
Hypovolemia
adrenal hyperplasia
Liddles syndrome
Cardiac Hypertrophy
Adrenal Hyperplasia Congenital
Hypertrophy
ventricular hypertrophy
ADRENAL TUMOR
ADRENAL ADENOMA
Cardiovascular Diseases
Tumors
Necrosis
Hyperkalemia
Dilated Cardiomyopathy
Preeclampsia
Cushing Syndrome
Renal Failure Chronic

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CYP11B2 Gene

Cytochrome P450, Family 11, Subfamily B, Polypeptide 2

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