CYP11B2 Gene
protein-coding GIFtS : 64 GCID: GC08 M143988
cytochrome P450, family 11, subfamily B, polypeptide 2 cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase),... CYP11B )
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Aliasesfor CYP11B2 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Cytochrome P450, Family 11, Subfamily B, Polypeptide 2 1 2 CYPXIB22 3 ALDOS1 2 3 EC 1.14.15.43 8 CPN21 2 P450C182 CYP11B1 2 Cytochrome P450 11B2, Mitochondrial2 CYP11BL1 2 Mitochondrial Cytochrome P450, Family 11, Subfamily B, Polypeptide 22 P-450C181 2 Steroid 11-Beta-Monooxygenase2 P450aldo1 2 Steroid 11-Beta/18-Hydroxylase2 Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 21 2 Steroid 18-Hydroxylase, Aldosterone Synthase, P450C18, P450aldo2 Aldosterone Synthase2 3 EC 1.14.15.53 Aldosterone-Synthesizing Enzyme2 3 Steroid 18-Hydroxylase3 Cytochrome P-450Aldo2 3 EC 1.14.158 Cytochrome P-450C182 3
Export aliases for CYP11B2 gene to outside databases Previous GC identifers: GC08U990015 GC08M144225 GC08M143796 GC08M144054 GC08M139244
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Summariesfor CYP11B2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for CYP11B2 : 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) UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099 Function : Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and18-hydroxycorticosterone Gene Wiki entry for CYP11B2 (Aldosterone synthase)
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Genomic Viewsfor CYP11B2 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000008.10 NC_018919.1 NT_008046.16 Regulatory elements: SABiosciences 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 Search SABiosciences Chromatin IP Primers for CYP11B2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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
Entrez Gene Ensembl 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
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Proteinsfor CYP11B2 gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099 See
protein sequence )Recommended Name: Size : 503 amino acids; 57560 DaCofactor : Heme group (By similarity)Subcellular location : Mitochondrion membrane2 PDB 3D structures from :4DVQ (3D) 4FDH (3D) Secondary accessions : B0ZBE4 Q16726Explore the universe of human proteins at neXtProt for CYP11B2: NX_P19099 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P19099 4/6 DME Specific Peptides for CYP11B2 (P19099 ) (see all 6 )CYP11B2 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_000489.3 ENSEMBL proteins: ENSP00000325822 Reactome Protein details: P19099 Human Recombinant Protein Products for CYP11B2: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing CYP11B2 Antibody Products: Assay Products for CYP11B2:
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Protein
Domains /for CYP11B2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P19099 ProtoNet protein and cluster: P19099
1 Blocks protein family : IPB002399 UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099 Similarity : Belongs to the cytochrome P450 family
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Functionfor CYP11B2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: C11B2_HUMAN, P19099 Function : Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and18-hydroxycorticosterone Catalytic activity : A steroid + reduced adrenal ferredoxin + O(2) = an 11-beta-hydroxysteroid + oxidized adrenalferredoxin + H(2)O Catalytic activity : Corticosterone + reduced adrenal ferredoxin + O(2) = 18-hydroxycorticosterone + oxidized adrenalferredoxin + 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 1.14.15.4 1 2 EC 1.14.15 2 EC 1.14.15.5 1 Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view) : About this table
About GeneDecksing Phenotypes: 9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cyp11b2) :About GeneDecksing Animal Models: Cyp11b2 tm1Hsk for CYP11B2Clone Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CYP11B2 (NM_000498 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP11B2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CYP11B2
In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP11B2
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Pathways & Interactionsfor CYP11B2 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways - 5/9 super-pathways (see all 9 ) About this table See pathways by source Super-pathway contained gene-specific pathways 1 Cytochrome P450 - arranged by substrate type 2 Metabolism 3 Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics 4 Mineralocorticoid biosynthesis 5 Biological oxidations
Pathway sources See GeneCards unified pathways Show all pathways 5 5/9 (see all 9 )2 CYP11B2 2 (Kegg details for CYP11B2) :About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP11B2 STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)5/7 Interacting proteins for CYP11B2 (P19099 3 ENSP00000325822 4 via UniProtKB, MINT, STRING , and/or I2D (see all 7 )About this table Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13 ): About this table
About GeneDecksing
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Drugs & Compoundsfor CYP11B2 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section About GeneDecksing Browse Tocris compounds for CYP11B2 10/22 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 10/63 Novoseek 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 / C11B2
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Transcriptsfor CYP11B2 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section 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 ) Clone OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat see all 3 )human mouse rat OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CYP11B2 (NM_000498 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP11B2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CYP11B2
Additional cDNA sequence: X54741.1
1 DOTS entry : DT.95080617
10 AceView cDNA sequences :
X54741 T28774 BV199117 BV198798 BV183624 BV198800 NM_000498 BV195495 AV710391 BF791620 GeneLoc Exon Structure
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Expression for CYP11B2 gene
(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™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section CYP11B2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GGAAAGGAATAbout this image CYP11B2 expression in embryonic tissues and stem cells About this table
See CYP11B2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CYP11B2 SOURCE GeneReport for Unigene cluster: Hs.632054 SABiosciences Expression via Pathway-Focused PCR Arrays including CYP11B2 : Primer OriGene genome-wide validated SYBR primer pairs in human mouse rat Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP11B2
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Orthologsfor CYP11B2 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for CYP11B2 gene from 5/15 species (see all 15 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
mouse Mammalia Cyp11b25 1
cytochrome P450, family 11, subfamily b, polypeptide 2 less 5 less 1
73.48(n) 1 64.93(a) 1
15 (34.29 cM) 5 110115 1 NM_001033229.3 1 NP_001028401.2 1 74851010 5
lizard Reptilia --
--
51(a)
1 → many
AAWZ02036987(6150-16154)
zebrafish Actinopterygii cyp11c11
cytochrome P450, family 11, subfamily C, polypeptide 1 less
55.67(n) 45.29(a)
791124 NM_001080204.1 NP_001073673.1
fruit fly Insecta Cyp12c13
cytochrome P450
31(a)
75D6 --
worm Secernentea ccp-443
cytochrome p450
27(a)
II(5504020-5505870) --
ENSEMBL Gene Tree for CYP11B2 (if available)TreeFam Gene Tree for CYP11B2 (if available)
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Paralogsfor CYP11B2 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CYP11B2 gene CYP11A1 2 CYP27A1 2 CYP11B1 2 CYP24A1 2 CYP27C1 2 CYP27B1 2 6 SIMAP similar genes for CYP11B2 using alignment to 3 protein entries: C11B2_HUMAN (see all proteins ):CYP11B1 CYP11A1 CYP27C1 CYP27B1 CYP24 CYP24A1 About GeneDecksing
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Genomic Variantsfor CYP11B2 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , 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) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 8 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for CYP11B2 (143991975 - 143999259 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for CYP11B2 2 CNVs 22916 39542 Human Gene Mutation Database (HGMD) : CYP11B2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
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Disorders
/ Diseasesfor CYP11B2 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 124080 OMIM disorders : 610600 203400 UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099 Defects in CYP11B2 are the cause of corticosterone methyloxidase type 1 deficiency (CMO-1 deficiency) [MIM:203400]; also known as aldosterone deficiency due to defect in 18-hydroxylase or aldosterone deficiency I. CMO-1 deficiency is an 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 Defects in CYP11B2 are the cause of corticosterone methyloxidase type 2 deficiency (CMO-2 deficiency) [MIM:610600]. CMO-2 is an 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 Defects in CYP11B2 are a cause of familial hyperaldosteronism type 1 (FH1) [MIM:103900]. It is 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 molecular defect causing hyperaldosteronism familial type 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 20/64 (see all 64 ): About MalaCards aldosteronism 11-beta-hydroxylase deficiency 11-beta-hydroxylase-deficient congenital adrenal hyperplasia hypoaldosteronism, congenital, due to cmo ii deficiency hypoaldosteronism, congenital, due to cmo i deficiency 17-alpha-hydroxylase deficiency glucocorticoid-remediable aldosteronism low renin hypertension aldosterone to renin ratio raised hypoaldosteronism 21-hydroxylase deficiency adrenal hyperplasia open-angle glaucoma hyperaldosteronism familial hyperaldosteronism systolic heart failure conn's syndrome atrial fibrillation aortic coarctation cholesterol 7 diseases from the University of Copenhagen DISEASES database for CYP11B2 :Hyperaldosteronism Conn's syndrome Hypertension Adenoma Hypokalemia Adrenocortical carcinoma Cushing's syndrome 10/42 Novoseek 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
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Publicationsfor CYP11B2 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for CYP11B2 gene, integrated from 9 sources (see all 507 ):(articles sorted by number of sources associating them with CYP11B2) Utopia : connect your pdf to the dynamic
Haplotypes of aldosterone synthase (CYP11B2) gene in the general population of Japan: the Ohasama study. (PubMed id 11728005) 1 , 4, 9(2001) Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production. (PubMed id 15062555) 1 , 4, 9(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(1993) 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(2004) CYP11B2 polymorphisms and home blood pressure in a population-based cohort in Japanese: the Ohasama study. (PubMed id 15055249) 1 , 4, 9(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(2004) 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(2006) Lack of association between the CYP11B2 gene polymorphism and preeclampsia, eclampsia, and the HELLP syndrome in Turkish women. (PubMed id 16303227) 1 , 4, 9(2006) [The role of polymorphic markers of vasoactive hormones genes in clinical characteristics of chronic glomerulonephritis] (PubMed id 16078594) 1 , 4, 9(2005) Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2. (PubMed id 15894890) 1 , 4, 9(2005)
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External Searches for CYP11B2 gene
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and/or
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Specialized Databases showing CYP11B2 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for CYP11B2 Pharmacogenomics, SNPs, Pathways GeneReviews http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP11B2 Wikipedia http://en.wikipedia.org/wiki/CYP11B2
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About This Section Patent Information for CYP11B2 gene: CYP11B2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CYP11B2 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
Browse OriGene Antibodies OriGene shRNA RFP for CYP11B2 OriGene 29mer shRNA kits in GFP-retroviral vector in human mouse rat OriGene genome-wide validated SYBR primer pairs in human mouse rat OriGene Protein Over-expression Lysate for CYP11B2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CYP11B2 OriGene 3'-UTR Clone for CYP11B2 OriGene untagged cDNA clones in CMV expression vector in human mouse rat OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human mouse rat Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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