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FLASH GENE
Symbol CYP11B2 contributors: mct - updated : 06-04-2013
HGNC name cytochrome P450, family 11, subfamily B, polypeptide 2
HGNC id 2592
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated HemoP
mono polymer monomer
HOMOLOGY
Homologene
FAMILY
  • cytochrome P450 subfamily XIB
  • multigenic cytochrome P450 superfamily of mixed-function monooxygenases
    • CATEGORY enzyme , transport
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
    intracellular,cytoplasm,cytosolic,microsome
    basic FUNCTION
  • multifunctional enzyme with 18 hydroxylase, 18 hydroxysteroid dehydrogenase and accessorily 11 beta-hydroxylase activity, involved in mineralocorticoid biosynthesis
  • preferentially catalyzing the conversion of 11- deoxycorticosterone to aldosterone via corticosterone and 18- hydroxycorticosterone
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor, nucleotide,
  • NADPH, heme
    • protein
  • flavoprotein P450 oxidoreductase (POR)
  • GPLD1 mediates STAR protein and aldosterone synthase (CYP11B2) expression via increasing the phosphorylation (activation) of their regulatory transcription factors
    • cell & other
    REGULATION
    inhibited by PRKCE
    repressed by NR5A1 ( its overexpression dramatically inhibited CYP11B2 expression and decreased aldosterone production) (Ye 2009)
    APEX1, a transcriptional repressor of CYP11B2 and differential APEX1 binding at -1651 of CYP11B2 results in altered gene expression
    Other regulated by calcium ion-signaling as well as cAMP-signaling
    ASSOCIATED DISORDERS
    corresponding disease(s) CMO1 , CMO2 , GSH
    related resource MITOP database
    Susceptibility
  • to hypertension, high blood pressure
  • to pediatric hypertrophic cardiomyopathy with poor outcome
    • Variant & Polymorphism SNP
  • homozygotes TT in hypertension, high blood pressure
  • lys 173/arg associated with stage-2 hypertension
  • T344C and A6547G strong associated with hypertension in females
  • associated with progressive septal hypertrophy and left ventricular outflow tract obstruction in children with hypertrophic cardiomyopathy
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS