ENSG00000179142


Homo sapiens

Features
Gene ID: ENSG00000179142
  
Biological name :CYP11B2
  
Synonyms : CYP11B2 / cytochrome P450 family 11 subfamily B member 2 / P19099
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q24.3
Gene start: 142910559
Gene end: 142917843
  
Corresponding Affymetrix probe sets: 214630_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000325822
NCBI entrez gene - 1585     See in Manteia.
OMIM - 124080
RefSeq - NM_000498
RefSeq Peptide - NP_000489
swissprot - P19099
Ensembl - ENSG00000179142
  
Related genetic diseases (OMIM): 124080 - Aldosterone to renin ratio raised
  203400 - Hypoaldosteronism, congenital, due to CMO I deficiency, 203400
  610600 - Hypoaldosteronism, congenital, due to CMO II deficiency, 610600
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cyp11c1ENSDARG00000042014Danio rerio
 Cyp11b1ENSMUSG00000075604Mus musculus
 Cyp11b2ENSMUSG00000022589Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
P15538 / CYP11B1 / cytochrome P450 family 11 subfamily B member 1ENSG0000016088293
P05108 / CYP11A1 / cytochrome P450 family 11 subfamily A member 1ENSG0000014045938
O15528 / CYP27B1 / cytochrome P450 family 27 subfamily B member 1ENSG0000011101226
Q02318 / CYP27A1 / cytochrome P450 family 27 subfamily A member 1ENSG0000013592924
Q07973 / CYP24A1 / cytochrome P450 family 24 subfamily A member 1ENSG0000001918624
Q4G0S4 / CYP27C1 / cytochrome P450 family 27 subfamily C member 1ENSG0000018668422
CYP3A5 / P20815 / cytochrome P450 family 3 subfamily A member 5ENSG0000010625820
P24557 / TBXAS1 / thromboxane A synthase 1ENSG0000005937720
Q9HB55 / CYP3A43 / cytochrome P450 family 3 subfamily A member 43ENSG0000002146120
P24462 / CYP3A7-CYP3A51P / CYP3A7-CYP3A51P readthroughENSG0000028230119
CYP3A7 / P24462 / cytochrome P450 family 3 subfamily A member 7ENSG0000016087019
CYP3A4 / P08684 / cytochrome P450 family 3 subfamily A member 4ENSG0000016086819
Q9Y6A2 / CYP46A1 / cytochrome P450 family 46 subfamily A member 1ENSG0000003653018


Protein motifs (from Interpro)
Interpro ID Name
 IPR001128  Cytochrome P450
 IPR002399  Cytochrome P450, mitochondrial
 IPR017972  Cytochrome P450, conserved site
 IPR036396  Cytochrome P450 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002017 regulation of blood volume by renal aldosterone IMP
 biological_processGO:0003091 renal water homeostasis IC
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006700 C21-steroid hormone biosynthetic process IDA
 biological_processGO:0006705 mineralocorticoid biosynthetic process TAS
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0016125 sterol metabolic process TAS
 biological_processGO:0032342 aldosterone biosynthetic process IMP
 biological_processGO:0032870 cellular response to hormone stimulus IEP
 biological_processGO:0034651 cortisol biosynthetic process IMP
 biological_processGO:0035865 cellular response to potassium ion IEP
 biological_processGO:0055075 potassium ion homeostasis IMP
 biological_processGO:0055078 sodium ion homeostasis IMP
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005739 mitochondrion IDA
 cellular_componentGO:0005743 mitochondrial inner membrane IC
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0031966 mitochondrial membrane IEA
 molecular_functionGO:0004497 monooxygenase activity IEA
 molecular_functionGO:0004507 steroid 11-beta-monooxygenase activity TAS
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0008395 steroid hydroxylase activity TAS
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0020037 heme binding IC
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0047783 corticosterone 18-monooxygenase activity IEA


Pathways (from Reactome)
Pathway description
Mineralocorticoid biosynthesis
Glucocorticoid biosynthesis
Endogenous sterols
Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000127 Renal salt wasting 
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 HP:0000360 Tinnitus "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233]
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 HP:0000421 Epistaxis 
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 HP:0000822 Hypertension "High blood pressure." [HPO:curators]
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 HP:0000848 Increased plasma renin 
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 HP:0001278 Orthostatic hypotension "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001944 Dehydration 
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 HP:0001954 Fever, episodic "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators]
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 HP:0001959 Polydipsia 
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 HP:0002013 Vomiting 
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 HP:0002018 Nausea 
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 HP:0002153 Hyperkalemia 
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 HP:0002170 Intracranial hemorrhage "A hemorrhage (bleeding) occuring within the skull." [HPO:curators]
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 HP:0002315 Headache "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators]
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 HP:0002615 Hypotension 
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 HP:0002900 Hypokalemia 
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 HP:0002902 Hyponatremia 
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 HP:0003623 Onset in neonatal period 
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 HP:0004319 Decreased aldosterone production 
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 HP:0008221 Enlarged adrenal glands 
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 HP:0008872 Feeding problems in infancy 
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 HP:0011410 Caesarian section 
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 HP:0011739 Dexamethasone-suppresible primary hyperaldosteronism "A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone." [DDD:spark, HPO:probinson]
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 HP:0011746 Secretory adrenocortical adenoma "An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones." [DDD:spark]
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 HP:0040084 Abnormal circulating renin 
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 HP:0100602 Preecplampsia "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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