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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP11B2 Gene

protein-coding   GIFtS: 64
GCID: GC08M143988

cytochrome P450, family 11, subfamily B, polypeptide 2

(Previous names: cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase),...)
(Previous symbol: CYP11B)
 Explore 64 diseases affiliated with
CYP11B2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CYP11B2    

Aliases
for CYP11B2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cytochrome P450, Family 11, Subfamily B, Polypeptide 21 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     

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


Summaries
for 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 and
18-hydroxycorticosterone

Gene Wiki entry for CYP11B2 (Aldosterone synthase)


Genomic Views
for CYP11B2 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 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

SwitchGear Promoter luciferase reporter plasmid: CYP11B2 promoter sequence
   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 (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

Proteins
for CYP11B2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, 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,
Biochemical Assays by 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: Cytochrome P450 11B2, mitochondrial precursor  
Size: 503 amino acids; 57560 Da
Cofactor: Heme group (By similarity)
Subcellular location: Mitochondrion membrane
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P19099

    • 4/6 DME Specific Peptides for CYP11B2 (P19099) (see all 6)
     RQCLGRR  IPAGTLV  AGSVDTT  GVFLLNGPEW 

    CYP11B2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000489.3  
    ENSEMBL proteins: 
     ENSP00000325822  
    Reactome Protein details: P19099
    Human Recombinant Protein Products: 
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    Uscn Proteins for CYP11B2

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA1741400
    GO:0005743mitochondrial inner membrane TAS--


    CYP11B2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CYP11B2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CYP11B2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: IPB002399 Mitochondrial P450 clan signature

    UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099
    Similarity: Belongs to the cytochrome P450 family


    Function
    for CYP11B2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: C11B2_HUMAN, P19099
    Function: Preferentially catalyzes the conversion of 11-deoxycorticosterone to aldosterone via corticosterone and
    18-hydroxycorticosterone
    Catalytic activity: A steroid + reduced adrenal ferredoxin + O(2) = an 11-beta-hydroxysteroid + oxidized adrenal
    ferredoxin + H(2)O
    Catalytic activity: Corticosterone + reduced adrenal ferredoxin + O(2) = 18-hydroxycorticosterone + oxidized adrenal
    ferredoxin + 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

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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004507steroid 11-beta-monooxygenase activity IDA2256920
    GO:0005506iron ion binding IEA--
    GO:0009055electron carrier activity IEA--
    GO:0020037heme binding IC2256920
    GO:0047783corticosterone 18-monooxygenase activity IEA--


    CYP11B2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Cyp11b2tm1Hsk for CYP11B2
         9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cyp11b2):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  growth/size 
     homeostasis/metabolism  mortality/aging  muscle  renal/urinary system 

    CYP11B2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for 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 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, 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-pathwaycontained gene-specific pathways
    1Cytochrome P450 - arranged by substrate type
    		Cytochrome P450 - arranged by substrate type1.00
    		cytochrome P4500.73
    		Phase 1 - Functionalization of compounds0.74
    2Metabolism
    		Metabolism1.00
    		Metabolism of lipids and lipoproteins0.34
    		Metabolic pathways0.38
    3Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics
    		Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics1.00
    		ACE Inhibitor Pathway0.85
    		ACE Inhibitor Pathway, Pharmacodynamics1.00
    4Mineralocorticoid biosynthesis
    		Mineralocorticoid biosynthesis1.00
    		mineralocorticoid biosynthesis0.80
    5Biological oxidations
    		Biological oxidations1.00
    		metapathway biotransformation0.41

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5 BioSystems Pathways for CYP11B2 
        ACE Inhibitor Pathway
    cytochrome P450
    mineralocorticoid biosynthesis
    Glucocorticoid & Mineralcorticoid Metabolism
    metapathway biotransformation

    5/9        Reactome Pathways for CYP11B2 (see all 9)
        Cytochrome P450 - arranged by substrate type
    Mineralocorticoid biosynthesis
    Metabolism
    Steroid hormones
    Endogenous sterols

    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

    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 (P190993 ENSP000003258224) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CYP11B1P155383, ENSP000002924274I2D: score=1 STRING: ENSP00000292427
    FDX1P101093, ENSP000002602704I2D: score=1 STRING: ENSP00000260270
    CYP11A1P051083, ENSP000002680534I2D: score=1 STRING: ENSP00000268053
    AKR1D1ENSP000002423754STRING: ENSP00000242375
    HSD11B1ENSP000002614654STRING: ENSP00000261465
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002017regulation of blood volume by renal aldosterone IMP14614232
    GO:0003091renal water homeostasis IC2256920
    GO:0006700C21-steroid hormone biosynthetic process IDA2256920
    GO:0006705mineralocorticoid biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--


    CYP11B2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for 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

    CYP11B2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CYP11B2

    10/22 HMDB Compounds for CYP11B2 (see all 22)    About this table
    CompoundSynonyms CAS #PubMed Ids
    11b,17a,21-Trihydroxypreg-nenolone11beta,17alpha,21-Trihydroxypregnenolone (see all 2)----
    11b-Hydroxyandrost-4-ene-3,17-dioneAndrost-4-ene-3,17-dione-11beta-ol (see all 3)382-44-5--
    11b-Hydroxyprogesterone11b-Hydroxyprogesterone (see all 7)600-57-7--
    11beta-Hydroxyprogesterone ----
    17-Hydroxyprogesterone17-OHP (see all 15)68-96-2--
    17a,21-Dihydroxypreg-nenolone17alpha,21-Dihydroxypregnenolone (see all 2)1167-48-2--
    18-Hydroxycorticosterone11b,18,21-trihydroxy-pregn-4-ene-3,20-dione (see all 2)561-65-9--
    19-Hydroxydeoxycorticosterone11-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-deoxycorticosterone21-hydroxy-19-oxopregn-4-ene-3,20-dione 75220-37-0--
    19-oic-deoxycorticosterone21-hydroxy-3,20-dioxopregn-4-en-19-oic acid anion (see all 3)81309-33-3--

    7 DrugBank Compounds for CYP11B2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MetyraponeMepyrapone (see all 9)54-36-4enzymeinhibitor9231789 17646925
    Aldosterone(+)-aldosterone (see all 18)52-39-1enzymesubstrate19934256
    Eplerenone-- 107724-20-9enzymeinhibitor19934256
    Etomidate-- 33125-97-2enzymeinhibitor19934256
    Hydrocortisone11beta-Hydroxycortisone (see all 16)50-23-7enzymesubstrate19934256
    MetoclopramideMetaclopramide (see all 9)364-62-5enzymeinducer19934256
    Mibefradil-- 116644-53-2enzymeinhibitor19934256

    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)

    Search CenterWatch for drugs/clinical trials and news about CYP11B2 / C11B2 

    Transcripts
    for CYP11B2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    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)

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    Inhib. RNA
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    Clone
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    Primer
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    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


    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,
    PCR Arrays from 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 imageBioGPS
    CGAP TAG: GGAAAGGAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CYP11B2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMyoblastsSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMyoblastsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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: 
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              Cellular Stress Responses in human mouse rat
              Drug Metabolism in human mouse rat

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    In Situ
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    Orthologs
    for CYP11B2 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for CYP11B2 gene from 5/15 species (see all 15)    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 more1, 5 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 --
    		 --
    		 51(a)
    		 1 → many
    		 AAWZ02036987(6150-16154)
    zebrafish
    (Danio rerio)    		 Actinopterygii cyp11c11 cytochrome P450, family 11, subfamily C, polypeptide more 55.67(n)
    45.29(a)    		   791124  NM_001080204.1  NP_001073673.1 
    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
    for CYP11B2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP11B2 gene
    CYP11A12  CYP27A12  CYP11B12  CYP24A12  CYP27C12  CYP27B12  
    6 SIMAP similar genes for CYP11B2 using alignment to 3 protein entries:     C11B2_HUMAN (see all proteins):
    CYP11B1    CYP11A1    CYP27C1    CYP27B1    CYP24    CYP24A1

    CYP11B2 for paralogs           About GeneDecksing



    Genomic Variants
    for CYP11B2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 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

    10/356 NCBI SNPs in CYP11B2 are shown (see all 356)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219129781,2
    		C,pathogenic143588430(-) CCTGAC/TCCTGG 2 T I mis10--------
    rs1048940721,2
    		Cpathogenic143588470(-) ATAGAA/CGGTGT 2 E D mis10--------
    rs1219129771,2
    		Cpathogenic143588776(-) GGAAGG/TAGCAC 2 E * stg11Minor allele frequency- T:0.00NA 4516
    rs617572941,2
    		C,F,,pathogenic143590666(+) AGCTCA/GCCACT 2 A V mis15Minor allele frequency- G:0.06NS CSA NA EU 6074
    rs725546271,2
    		Cpathogenic143590970(-) GATGCA/C/G/T 
                GCTGC     		4 Q P R L mis10--------
    rs725546261,2
    		Cpathogenic143591515(-) TCCTCA/C/G/T 
                CTTTC     		4 T P A S mis10--------
    rs617639861,2
    		F--139243889(+) TCTTCA/GATCAC 1 -- ds50011Minor allele frequency- G:0.07NS 496
    rs74631481,2
    		C,H--139243945(+) AAGCTT/CACATT 1 -- ds50015Minor allele frequency- C:0.00NS EA NA 386
    rs74648831,2
    		C,H--139243997(+) ATTAGG/ACAGGC 1 -- ds50015Minor allele frequency- A:0.00NS EA NA 420
    rs617639871,2
    		C,F,--139244039(+) CATTCG/ACAGGC 1 -- ds50011Minor allele frequency- A:0.00NS 496

    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 for resequencing CYP11B2
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP11B2

    Disorders / Diseases
    for 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
    CYP11B2 for disorders           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 diseases for CYP11B2 (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

    Publications
    for CYP11B2 gene

    (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)
    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
    world of online information

    1. 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. (2001)
    2. Mutation analysis of CYP11B1 and CYP11B2 in patients with increased 18-hydroxycortisol production. (PubMed id 15062555)1, 4, 9 Nicod J....Ferrari P. (2004)
    3. 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. (1993)
    4. 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. (2004)
    5. 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. (2004)
    6. 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. (2004)
    7. 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. (2006)
    8. Lack of association between the CYP11B2 gene polymorphism and preeclampsia, eclampsia, and the HELLP syndrome in Turkish women. (PubMed id 16303227)1, 4, 9 Percin F.E....Cetin A. (2006)
    9. [The role of polymorphic markers of vasoactive hormones genes in clinical characteristics of chronic glomerulonephritis] (PubMed id 16078594)1, 4, 9 Kamyshova E.S....Shvetsov M.I.u. (2005)
    10. Correlation between left ventricular mass and urinary sodium excretion in specific genotypes of CYP11B2. (PubMed id 15894890)1, 4, 9 Isaji M....White P.C. (2005)

    External Searches for CYP11B2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing CYP11B2 gene

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

    Other Databases showing CYP11B2 gene

    (According to HUGE)
    About This Section
    		   --

    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
    NameDescription
    PharmGKB entry for CYP11B2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP11B2
    Wikipedia http://en.wikipedia.org/wiki/CYP11B2

    Intellectual Property
    for CYP11B2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CYP11B2 gene:
    Search GeneIP for patents involving CYP11B2

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