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-oxo... See more...

Aliases for CYP11B2 Gene

Aliases for CYP11B2 Gene

  • Cytochrome P450 Family 11 Subfamily B Member 2 2 3 5
  • ALDOS 2 3 4
  • Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 2 2 3
  • Cytochrome P450, Family 11, Subfamily B, Polypeptide 2 2 3
  • Corticosterone 18-Monooxygenase, CYP11B2 3 4
  • Steroid 11-Beta-Hydroxylase, CYP11B2 3 4
  • Cytochrome P450 11B2, Mitochondrial 3 4
  • Aldosterone-Synthesizing Enzyme 3 4
  • Steroid 11-Beta-Monooxygenase 2 3
  • Aldosterone Synthase 3 4
  • Cytochrome P-450Aldo 3 4
  • Cytochrome P-450C18 3 4
  • EC 1.14.15.4 4 50
  • P-450C18 2 3
  • P450aldo 2 3
  • CYP11BL 2 3
  • CYPXIB2 3 4
  • CPN2 2 3
  • Mitochondrial Cytochrome P450, Family 11, Subfamily B, Polypeptide 2 3
  • Steroid 18-Hydroxylase, Aldosterone Synthase, P450C18, P450aldo 3
  • Steroid 11-Beta/18-Hydroxylase 3
  • Steroid 18-Hydroxylase 4
  • EC 1.14.15.5 4
  • EC 1.14.15 50
  • P450C18 3
  • CYP11B2 5
  • CYP11B 3

External Ids for CYP11B2 Gene

Previous HGNC Symbols for CYP11B2 Gene

  • CYP11B

Previous GeneCards Identifiers for CYP11B2 Gene

  • GC08U990015
  • GC08M144225
  • GC08M143796
  • GC08M144054
  • GC08M143988
  • GC08M139244

Summaries for CYP11B2 Gene

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 Member 2) is a Protein Coding gene. Diseases associated with CYP11B2 include Corticosterone Methyloxidase Type Ii Deficiency and Corticosterone Methyloxidase Type I Deficiency. Among its related pathways are Metabolism of steroid hormones and Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP11B1.

UniProtKB/Swiss-Prot Summary for CYP11B2 Gene

  • A cytochrome P450 monooxygenase that catalyzes the biosynthesis of adrenal mineralocorticoid aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone/21-hydroxyprogesterone, namely 11-beta hydroxylation followed with two successive oxidations at C18 to yield 18-hydroxy and then 18-aldehyde derivatives, resulting in the formation of aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506).

Gene Wiki entry for CYP11B2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP11B2 Gene

Genomics for CYP11B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CYP11B2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J142917 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.7 0.0 -29 0.1 CYP11B2 lnc-GML-2 LY6E
GH08J142990 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.1 -74.8 -74848 5 CEBPA ZNF217 CEBPB ZBTB7B EP300 HES1 MBD2 KLF9 CTBP1 NONO LINC02878 LINC02904 TSNARE1 LY6E-DT ZNF623 JRK CYP11B2 ENSG00000253715 LY6D TIGD5
GH08J142449 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 1.5 +466.0 466042 4.8 EZH2 ZNF600 ZNF10 ZIC2 BHLHE40 SIN3A ELF1 ZNF623 SP2 GABPB1 ZNF696 TSNARE1 LYNX1 GLI4 ADGRB1 CYP11B2 lnc-ADGRB1-5 ARC
GH08J142950 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 0.3 -33.8 -33778 3 BHLHE40 HES1 RXRA RARA FOSL2 JUND EHMT2 ZNF8 HNF4A MAFK ADGRB1 ENSG00000261710 LYNX1 RF00017-6791 LOC105375794 CYP11B2 LY6E
GH08J142941 Enhancer 1 ENCODE dbSUPER 0.4 -22.3 -22317 0.2 NCOR1 REST BHLHE40 HOMEZ ARNT SMAD4 SAP130 MIER3 GABPB1 DRAP1 LOC105375794 RF00017-6791 CYP11B2 LY6E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP11B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP11B2

Top Transcription factor binding sites by QIAGEN in the CYP11B2 gene promoter:
  • CREB
  • deltaCREB
  • HSF1 (long)
  • HSF1short
  • Lmo2
  • NF-1
  • NF-1/L
  • Roaz
  • YY1
  • ZID

Genomic Locations for CYP11B2 Gene

Latest Assembly
chr8:142,910,559-142,917,843
(GRCh38/hg38)
Size:
7,285 bases
Orientation:
Minus strand

Previous Assembly
chr8:143,991,975-143,999,259
(GRCh37/hg19 by Entrez Gene)
Size:
7,285 bases
Orientation:
Minus strand

chr8:143,991,975-143,999,259
(GRCh37/hg19 by Ensembl)
Size:
7,285 bases
Orientation:
Minus strand

Genomic View for CYP11B2 Gene

Genes around CYP11B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP11B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP11B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP11B2 Gene

Proteins for CYP11B2 Gene

  • Protein details for CYP11B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19099-C11B2_HUMAN
    Recommended name:
    Cytochrome P450 11B2, mitochondrial
    Protein Accession:
    P19099
    Secondary Accessions:
    • B0ZBE4
    • Q16726

    Protein attributes for CYP11B2 Gene

    Size:
    503 amino acids
    Molecular mass:
    57560 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP11B2 Gene

neXtProt entry for CYP11B2 Gene

Selected DME Specific Peptides for CYP11B2 Gene

P19099:
  • RQCLGRR
  • RGHKCGVFLLNGP
  • GVFLLNGPEW
  • AGSVDTT
  • LPLLRAALKETLRLYPVG
  • IPAGTLV

Post-translational modifications for CYP11B2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP11B2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP11B2 Gene

Gene Families for CYP11B2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for CYP11B2 Gene

InterPro:
Blocks:
  • Mitochondrial P450 clan signature

Suggested Antigen Peptide Sequences for CYP11B2 Gene

GenScript: Design optimal peptide antigens:
  • Steroid 18-hydroxylase (C11B2_HUMAN)
  • Steroid 18-hydroxylase (Q16315_HUMAN)
  • Steroid 18-hydroxylase (Q16316_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P19099

UniProtKB/Swiss-Prot:

C11B2_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP11B2: view

Function for CYP11B2 Gene

Molecular function for CYP11B2 Gene

UniProtKB/Swiss-Prot Function:
A cytochrome P450 monooxygenase that catalyzes the biosynthesis of adrenal mineralocorticoid aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Catalyzes three sequential oxidative reactions of 11-deoxycorticosterone/21-hydroxyprogesterone, namely 11-beta hydroxylation followed with two successive oxidations at C18 to yield 18-hydroxy and then 18-aldehyde derivatives, resulting in the formation of aldosterone (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:11856349, PubMed:23322723, PubMed:1594605, PubMed:9814506).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a steroid + 2 H(+) + O2 + 2 reduced [adrenodoxin] = an 11beta-hydroxysteroid + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:15629, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:35341, ChEBI:CHEBI:35346; EC=1.14.15.4; Evidence={ECO:0000269|PubMed:23322723};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=21-hydroxyprogesterone + 2 H(+) + O2 + 2 reduced [adrenodoxin] = corticosterone + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:46104, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16827, ChEBI:CHEBI:16973, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; Evidence={ECO:0000269|PubMed:11856349, ECO:0000269|PubMed:1594605, ECO:0000269|PubMed:9814506};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=corticosterone + 2 H(+) + O2 + 2 reduced [adrenodoxin] = 18-hydroxycorticosterone + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:11872, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16485, ChEBI:CHEBI:16827, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; EC=1.14.15.5; Evidence={ECO:0000269|PubMed:11856349, ECO:0000269|PubMed:1594605, ECO:0000269|PubMed:23322723, ECO:0000269|PubMed:9814506};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=18-hydroxycorticosterone + 2 H(+) + O2 + 2 reduced [adrenodoxin] = aldosterone + 2 H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:50792, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16485, ChEBI:CHEBI:27584, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; Evidence={ECO:0000269|PubMed:11856349, ECO:0000269|PubMed:1594605, ECO:0000269|PubMed:9814506};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=11-deoxycortisol + 2 H(+) + O2 + 2 reduced [adrenodoxin] = cortisol + H2O + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:46100, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:17650, ChEBI:CHEBI:28324, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738; Evidence={ECO:0000269|PubMed:11856349, ECO:0000269|PubMed:23322723};.
GENATLAS Biochemistry:
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) for CYP11B2 Gene

Phenotypes From GWAS Catalog for CYP11B2 Gene

Gene Ontology (GO) - Molecular Function for CYP11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0004507 steroid 11-beta-monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CYP11B2: view
genes like me logo Genes that share phenotypes with CYP11B2: view

Human Phenotype Ontology for CYP11B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP11B2 Gene

MGI Knock Outs for CYP11B2:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP11B2

No data available for Transcription Factor Targets and HOMER Transcription for CYP11B2 Gene

Localization for CYP11B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP11B2 Gene

Mitochondrion inner membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP11B2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
extracellular 2
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CYP11B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 1741400
GO:0005743 mitochondrial inner membrane IC,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CYP11B2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP11B2 Gene

Pathways & Interactions for CYP11B2 Gene

genes like me logo Genes that share pathways with CYP11B2: view

UniProtKB/Swiss-Prot P19099-C11B2_HUMAN

  • Pathway: Steroid biosynthesis.

SIGNOR curated interactions for CYP11B2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for CYP11B2 Gene

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:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process IDA 2256920
genes like me logo Genes that share ontologies with CYP11B2: view

Drugs & Compounds for CYP11B2 Gene

(51) Drugs for CYP11B2 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Eplerenone Approved Pharma Enzyme, inhibitor Selective mineralocorticoid receptor antagonist 116
Etomidate Approved Pharma Enzyme, inhibitor General anesthetic with GABA modulatory and GABA-mimetic actions 83
Hydrocortisone Approved, Vet_approved Pharma Enzyme, substrate 949
Metyrapone Approved, Investigational Pharma Enzyme, inhibitor 11-beta hydroxylase inhibitor 15
Spironolactone Approved Pharma Target, antagonist Mineralocorticoid receptor antagonist 240

(39) Additional Compounds for CYP11B2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
18-Hydroxycorticosterone
  • 11b,18,21-Trihydroxy-pregn-4-ene-3,20-dione
  • 18 Hydrocorticosterone
  • 18 Hydroxycorticosterone
  • 18-Hydrocorticosterone
  • Hydroxycorticosterone, 18
561-65-9
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
11beta-Hydroxyprogesterone
  • (11beta)-11-Hydroxypregn-4-ene-3,20-dione
  • 21-Deoxycorticosterone
  • (11b)-11-Hydroxypregn-4-ene-3,20-dione
  • (11Β)-11-hydroxypregn-4-ene-3,20-dione
  • 11b-Hydroxyprogesterone
600-57-7
17a,20a-Dihydroxycholesterol
  • 17a,21-Dihydroxypregnenolone
  • 17Α,21-dihydroxypregnenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17, 21-Dihydroxypregnenolone
  • 3Β,17α,21-trihydroxypregnenone
1167-48-2
21-deoxycortisol
  • 11b,17-Dihydroxy-pregn-4-ene-3,20-dione
  • 11b,17-Dihydroxy-progesterone
  • 11b,17a-Dihydroxypregn-4-ene-3,20-dione
  • 11b,17a-Dihydroxyprogesterone
  • 21-Dehydrohydrocortisone
641-77-0

(1) ApexBio Compounds for CYP11B2 Gene

Compound Action Cas Number
Corticosterone 50-22-6
genes like me logo Genes that share compounds with CYP11B2: view

Drug products for research

Transcripts for CYP11B2 Gene

mRNA/cDNA for CYP11B2 Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP11B2

Alternative Splicing Database (ASD) splice patterns (SP) for CYP11B2 Gene

No ASD Table

Relevant External Links for CYP11B2 Gene

GeneLoc Exon Structure for
CYP11B2

Expression for CYP11B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CYP11B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP11B2 Gene

This gene is overexpressed in Adrenal Gland (x52.5).

Protein differential expression in normal tissues from HIPED for CYP11B2 Gene

This gene is overexpressed in Synovial fluid (66.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP11B2 Gene



Protein tissue co-expression partners for CYP11B2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP11B2

SOURCE GeneReport for Unigene cluster for CYP11B2 Gene:

Hs.632054

Evidence on tissue expression from TISSUES for CYP11B2 Gene

  • Adrenal gland(4.8)
  • Blood(4.5)
  • Heart(2.4)
  • Kidney(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP11B2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • kidney
  • stomach
Pelvis:
  • ureter
  • urethra
  • urinary bladder
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CYP11B2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for CYP11B2 Gene

Orthologs for CYP11B2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP11B2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CYP11B2 30
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CYP11B2 29
  • 79.85 (n)
-- 30
  • 73 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CYP11B1 29
  • 79.55 (n)
-- 30
  • 73 (a)
ManyToMany
-- 30
  • 70 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Cyp11b1 29 16 30
  • 73.48 (n)
ManyToMany
Cyp11b2 30
  • 69 (a)
ManyToMany
Rat
(Rattus norvegicus)
Mammalia LOC100910462 29
  • 72.56 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 53 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 49 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 50 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii cyp11c1 30
  • 33 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Cyp12c1 31
  • 31 (a)
Cyp12a4 31
  • 28 (a)
dib 30
  • 24 (a)
ManyToMany
shd 30
  • 22 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ccp-44 31
  • 27 (a)
cyp-44A1 30
  • 24 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 21 (a)
OneToMany
Species where no ortholog for CYP11B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CYP11B2 Gene

ENSEMBL:
Gene Tree for CYP11B2 (if available)
TreeFam:
Gene Tree for CYP11B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP11B2: view image
Alliance of Genome Resources:
Additional Orthologs for CYP11B2

Paralogs for CYP11B2 Gene

Paralogs for CYP11B2 Gene

(5) SIMAP similar genes for CYP11B2 Gene using alignment to 3 proteins:

  • C11B2_HUMAN
  • Q16315_HUMAN
  • Q16316_HUMAN
genes like me logo Genes that share paralogs with CYP11B2: view

Variants for CYP11B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP11B2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
834390 Pathogenic: not provided 142,912,529(-) C/T
NM_000498.3(CYP11B2):c.1398+1G>A
SPLICE_DONOR
835110 Pathogenic: Corticosterone methyl oxidase type II deficiency; not provided 142,917,215(-) C/T
NM_000498.3(CYP11B2):c.240-1G>A
SPLICE_ACCEPTOR
845150 Pathogenic: not provided 142,917,202(-) T/TC
NM_000498.3(CYP11B2):c.251dup (p.Gly85fs)
FRAMESHIFT
845894 Pathogenic: not provided 142,912,528(-) A/C
NM_000498.3(CYP11B2):c.1398+2T>G
SPLICE_DONOR
847011 Pathogenic: not provided 142,912,857(-) G/A
NM_000498.3(CYP11B2):c.1150C>T (p.Arg384Ter)
NONSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CYP11B2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CYP11B2 Gene

Variant ID Type Subtype PubMed ID
esv2661137 CNV deletion 23128226
esv2673440 CNV deletion 23128226
esv2737938 CNV deletion 23290073
esv3544372 CNV deletion 23714750
esv991235 CNV deletion 20482838
nsv436586 CNV deletion 17901297
nsv470246 CNV loss 18288195
nsv473899 CNV novel sequence insertion 20440878
nsv480406 CNV novel sequence insertion 20440878
nsv950005 CNV deletion 24416366

Variation tolerance for CYP11B2 Gene

Residual Variation Intolerance Score: 76.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP11B2 Gene

Human Gene Mutation Database (HGMD)
CYP11B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP11B2
Leiden Open Variation Database (LOVD)
CYP11B2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP11B2 Gene

Disorders for CYP11B2 Gene

MalaCards: The human disease database

(39) MalaCards diseases for CYP11B2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C11B2_HUMAN
  • 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. {ECO:0000269 PubMed:11238478, ECO:0000269 PubMed:9177280}. Note=The disease is caused by variants 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. {ECO:0000269 PubMed:12788848, ECO:0000269 PubMed:1346492, ECO:0000269 PubMed:1594605, ECO:0000269 PubMed:9625333, ECO:0000269 PubMed:9814506}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Hyperaldosteronism, familial, 1 (HALD1) [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 variants 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.

Additional Disease Information for CYP11B2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CYP11B2: view

No data available for Genatlas for CYP11B2 Gene

Publications for CYP11B2 Gene

  1. A compound heterozygote case of type II aldosterone synthase deficiency. (PMID: 12788848) Dunlop FM … Curnow KM (The Journal of clinical endocrinology and metabolism 2003) 3 4 22 72
  2. Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. (PMID: 9814506) Portrat-Doyen S … Morel Y (The Journal of clinical endocrinology and metabolism 1998) 3 4 22 72
  3. CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18). (PMID: 9177280) Nomoto S … Shizuta Y (Biochemical and biophysical research communications 1997) 3 4 22 72
  4. Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. (PMID: 8439335) Mitsuuchi Y … Orii T (Biochemical and biophysical research communications 1993) 3 4 22 72
  5. Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. (PMID: 1346492) Mitsuuchi Y … Nakao K (Biochemical and biophysical research communications 1992) 3 4 22 72

Products for CYP11B2 Gene

Sources for CYP11B2 Gene