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FLASH GENE

Symbol

CYP21A2

contributors: mct - updated : 26-05-2015

HGNC name	cytochrome P450, family 21, subfamily A, polypeptide 2
HGNC id	2600

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CYP21A2 adrenal hyperplasia III, female pseudohermaphroditism
Location	6p21.3      Physical location : 3.258.930 - 32.009.419
Synonym name	steroid 21-hydroxylase
	steroid 21-monooxygenase
	cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
Synonym symbol(s)	21-OH, CYP21B, S21OH, CYP21, p450C21, CA21H, CPS1, CAH1
EC.number	1.14.99.10

DNA

TYPE	functioning gene
STRUCTURE	3.35 kb     10 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   HRE
text structure	vitamin D response element in the CYP21A2 promoter

MAPPING

cloned

Y

linked

N

status

confirmed

Map	pter - BF - C4A C4A - CYP21A1P - C4B C4B - CYP21A2 CYP21A2 - cen

regionally located

nested in the YB sequence, in the same orientation

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000500 10 - 2131 NP_000491 - 495 - 2000 10798363 NM_001128590 9 - 2041 NP_001122062 - 465 - 2000 10798363

EXPRESSION

Type

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 Cardiovascular heart atrium         vessels aorta       Endocrine adrenal gland           adrenal gland cortex zona glomerula

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

secondary structure

exhibits the characteristic triangular prism shape, containing 16 helices and 9 beta-sheets

conjugated

HemoP

mono polymer

monomer

HOMOLOGY

Homologene

FAMILY	cytochrome P450 subfamily XXIA
	multigenic cytochrome P450 superfamily of mixed-function monooxygenases

CATEGORY

enzyme , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,cytosolic,microsome

basic FUNCTION	catalyzing the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids
	its activities, which are required for cortisol and aldosterone biosynthesis, involve the formation of energetically disfavored primary carbon radical
	CYP17A1 and CYP21A2 are required for the biosynthesis of androgens, glucocorticoids, and mineralocorticoids

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

electron transport , detoxification

text	oxidative metabolism

PATHWAY

metabolism

drug , hormone

signaling

adrenocortical steroid biosynthesis including cortis and aldosterone

a component

INTERACTION

DNA

RNA

small molecule	cofactor, nucleotide,
	NADPH, heme

protein

flavoprotein P450 oxidoreductase (POR)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CYP21A2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS