Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

CYP11B2

contributors: mct - updated : 06-04-2013

HGNC name	cytochrome P450, family 11, subfamily B, polypeptide 2
HGNC id	2592

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMO1 corticosterone methyloxydase type I deficiency CMO2 corticosterone methyloxydase type II deficiency GSH glucocorticoid remediable aldosteronism
Location	8q24.3      Physical location : 143.991.974 - 143.999.259
Synonym name	aldosterone synthase
	cytochrome P450, subfamily XIB polypeptide 2
	cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2
	steroid 18-hydroxylase
	steroid 11-beta-monooxygenase
	steroid 11-beta/18-hydroxylase
	steroid 18-hydroxylase
	P450aldo
Synonym symbol(s)	ALDOS, CPN2, CYP11B, CYP11BL, P-450C18, P450C18, P450aldo
EC.number	1.14.15.4, 1.14.15.5

DNA

TYPE	functioning gene
STRUCTURE	7.29 kb     9 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000498 9 - 2936 NP_000489 - 503 - -

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland cortex zona glomerula     Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

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