Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1589
Gene name	Cytochrome P450 family 21 subfamily A member 2
Gene symbol	CYP21A2
Synonyms (NCBI Gene)	CA21HCAH1CPS1CYP21CYP21BP450c21B
Chromosome	6
Chromosome location	6p21.33
Summary	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 local

Show/Hide all (33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6467	C>A,G,T	Pathogenic, not-provided, benign	Intron variant, 5 prime UTR variant
rs6471	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs6475	T>A	Pathogenic	Coding sequence variant, missense variant
rs6476	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs7755898	C>T	Pathogenic	Stop gained, coding sequence variant
rs7769409	C>T	Pathogenic	Coding sequence variant, missense variant
rs9378251	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs12530380	T>A	Pathogenic	Missense variant, coding sequence variant
rs182942340	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs201552310	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs267606756	->T	Pathogenic	Coding sequence variant, frameshift variant
rs267606757	A>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs387906510	GAGACTAC>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs746097144	G>A,C	Pathogenic	5 prime UTR variant, missense variant, stop gained, coding sequence variant
rs770199817	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs786204728	TCGTGGAGAT>ACGAGGAGAA	Pathogenic	Missense variant, coding sequence variant
rs886038207	TC>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs994764994	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519068	TCCTGGAAGGGC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1057519069	C>G,T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs1554299737	T>A	Pathogenic	Missense variant, coding sequence variant
rs1554304513	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant
rs1554305880	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1582298980	->T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1582299448	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1582300748	A>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs1582302625	A>G	Pathogenic	5 prime UTR variant, splice acceptor variant
rs1582302950	G>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1582304457	G>A	Pathogenic	Missense variant, coding sequence variant
rs1582304536	C>A	Pathogenic	Stop gained, coding sequence variant
rs1582305275	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1582307951	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1582309414	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion

Show/Hide all (6)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016900	hsa-miR-335-5p	Microarray	18185580
MIRT921008	hsa-miR-4723-5p	CLIP-seq
MIRT921009	hsa-miR-4728-5p	CLIP-seq
MIRT2386652	hsa-miR-4681	CLIP-seq
MIRT921008	hsa-miR-4723-5p	CLIP-seq
MIRT921009	hsa-miR-4728-5p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004509	Function	Steroid 21-monooxygenase activity	IBA
GO:0004509	Function	Steroid 21-monooxygenase activity	IEA
GO:0004509	Function	Steroid 21-monooxygenase activity	TAS
GO:0005496	Function	Steroid binding	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IDA	25855791
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	IBA
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0006705	Process	Mineralocorticoid biosynthetic process	IEA
GO:0006705	Process	Mineralocorticoid biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IMP	16984992
GO:0008289	Function	Lipid binding	IEA
GO:0008395	Function	Steroid hydroxylase activity	IMP	16984992
GO:0008395	Function	Steroid hydroxylase activity	TAS	1406709
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	25855791
GO:0020037	Function	Heme binding	IEA
GO:0034651	Process	Cortisol biosynthetic process	IDA	25855791
GO:0046872	Function	Metal ion binding	IEA
GO:0103069	Function	17-hydroxyprogesterone 21-hydroxylase activity	IDA	25855791
GO:0103069	Function	17-hydroxyprogesterone 21-hydroxylase activity	IEA
GO:0106309	Function	Progesterone 21-hydroxylase activity	IDA	25855791
GO:0106309	Function	Progesterone 21-hydroxylase activity	IEA
GO:0106309	Function	Progesterone 21-hydroxylase activity	TAS

MIM	HGNC	e!Ensembl
613815	2600	ENSG00000231852

P08686

Protein name

Steroid 21-hydroxylase (EC 1.14.14.16) (21-OHase) (Cytochrome P-450c21) (Cytochrome P450 21) (Cytochrome P450 XXI) (Cytochrome P450-C21) (Cytochrome P450-C21B)

Protein function

A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediat

PDB

4Y8W , 5VBU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	27 → 480	Cytochrome P450	Domain

Sequence

MLLLGLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYR
LHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSKNYPDLSLGDYSLLWKAHK
KLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDK
IKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQ
LRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTL
SWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVP
LALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALA
FGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRL
QPRGMGAHSPGQNQ

Sequence length

494

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways Aldosterone synthesis and secretion Cortisol synthesis and secretion Cushing syndrome		Mineralocorticoid biosynthesis Glucocorticoid biosynthesis Endogenous sterols Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)

260

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Adenoma, cortisol-producing	Likely pathogenic; Pathogenic	rs6471	RCV000012935
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Likely pathogenic; Pathogenic	rs1776123817, rs2151873259, rs2151874375, rs2151876633, rs200005406, rs2151875295, rs1397184823, rs2151871966, rs778895502, rs201552310, rs772900496, rs267606756, rs779144910, rs2151872060, rs1296268275 View all (43 more)	RCV002283864 RCV001449916 RCV001449920 RCV001667853 RCV001667859 RCV001667861 RCV002034881 RCV002034882 RCV002034884 RCV004699630 RCV002211042 RCV002249853 RCV002250831 RCV002250931 RCV002283764 RCV000169566 RCV000012933 RCV000012934 RCV000012938 RCV000012940 RCV000012941 RCV000012943 RCV000012946 RCV000012950 RCV003318405 RCV000012953 RCV000012957 RCV000012958 RCV000012959 RCV000012960 RCV000012961 RCV003315170 RCV003315171 RCV003988664 RCV002250604 RCV004594931 RCV000517012 RCV000516282 RCV000517831 RCV005627393 RCV000826138 RCV000850239 RCV000850240 RCV000850241 RCV000055821 RCV000985129 RCV000984599 RCV000984600 RCV000984603 RCV000984610 RCV000984612 RCV000984611 RCV000984579 RCV000984580 RCV000984586 RCV002249597 RCV001293784 RCV004796403 RCV004800951 RCV004800950 RCV001293364
Carcinoma, adrenocortical, androgen-secreting	Likely pathogenic; Pathogenic	rs6471	RCV000012936
Congenital adrenal hyperplasia	Likely pathogenic; Pathogenic	rs760216630, rs6475, rs6471, rs751456004, rs1333278223, rs1554299737, rs1554304513, rs200005406, rs776989258, rs1246774295, rs1330554738	RCV003230922 RCV003226157 RCV001804725 RCV003388357 RCV004690495 RCV002298553 RCV005901163 RCV005431899 RCV005407926 RCV001269258 RCV005432645
Congenital lipoid adrenal hyperplasia due to STAR deficency	Pathogenic	rs6445	RCV002288483
CYP21A2-related disorder	Pathogenic; Likely pathogenic	rs748290896, rs72552755, rs772900496, rs6471, rs397509367, rs6445, rs151344504, rs546660952, rs1351045983, rs1333278223, rs776989258, rs770199817	RCV004754769 RCV003978421 RCV003403724 RCV003407320 RCV003904830 RCV003924827 RCV003390673 RCV003419233 RCV003901722 RCV003901982 RCV003975283 RCV003972997
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	Pathogenic	rs151344506	RCV000012963
See cases	Pathogenic	rs6445	RCV003985261

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs550051210, rs1057519068	-
21-HYDROXYLASE POLYMORPHISM	Benign	rs61338903	RCV000024070
Cholangiocarcinoma	Benign	rs79249676	RCV005912108
Gastric cancer	Benign	rs79249676	RCV005912105
Hepatocellular carcinoma	Benign	rs6467	RCV005889897
Lung cancer	Benign	rs79249676	RCV005912109
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	rs6467, rs79249676	RCV005887474 RCV005912106
Thymoma	Benign	rs79249676	RCV005912107
Uterine corpus endometrial carcinoma	Benign	rs79249676	RCV005912110
Uveal melanoma	Benign	rs6467	RCV005889898

Show/Hide Text Mining Associations (75)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
ACTH Secreting Pituitary Adenoma	Associate	37543511
Addison Disease	Associate	34193132, 34665570, 37553728, 40724898, 8405426
Adrenal Gland Neoplasms	Associate	18719294
Adrenal hyperplasia 2	Associate	36833192
Adrenal Hyperplasia Congenital	Associate	10207042, 10404805, 10521100, 10536001, 11073721, 12966197, 14502362, 1496017, 15027021, 15136096, 15858147, 1644925, 17275379, 18048990, 19272182 View all (91 more)
Adrenal incidentaloma	Associate	18323673
Adrenal Insufficiency Congenital	Associate	40724898
Adrenal Rest Tumor	Associate	37008950
Adrenocortical Adenoma	Associate	18323673, 2101789
Adrenocortical Carcinoma	Associate	24077358
Alzheimer Disease	Associate	40307628
Antley Bixler Syndrome Phenotype	Associate	21190981
Autism Spectrum Disorder	Associate	40307628
Autistic Disorder	Associate	18179706
Autoimmune Diseases	Associate	3018042
Cardiac Output Low	Associate	11004722, 14502362, 36866166, 36992809
Cardiovascular Diseases	Associate	25210767
Cataract	Associate	34748434
CHARGE Syndrome	Associate	31060112
Chromosome Deletion	Associate	31666125
Congenital adrenal hyperplasia due to 11 Beta hydroxylase deficiency	Associate	34821488
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Associate	10051010, 10404805, 10724358, 11004722, 11073721, 12966197, 1472941, 1496017, 1644925, 17275379, 18048990, 18323673, 18397975, 18478071, 18719294 View all (60 more)
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Inhibit	2101789, 3498630, 3500473
Congenital central hypoventilation syndrome	Associate	10724358, 18048990, 21274396, 22156666, 22886582, 24071710, 25736066, 28415939, 29328376, 30113485, 31060112, 32442933, 32959514, 35882282, 36316845 View all (4 more)
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	1472941
Cryptorchidism	Associate	31060112
Diabetes Insipidus Nephrogenic	Associate	29996815
Disorders of Sex Development	Associate	40149462
Dwarfism Pituitary	Associate	29412390
Ehlers Danlos Syndrome	Associate	31229653, 33332743
Familial paroxysmal dystonia	Associate	2315306
Genetic Diseases Inborn	Associate	12966197, 24312389, 27376426, 2913051, 30465166
Gonadal Disorders	Associate	36992809
Graves Disease	Associate	36316845
Growth Disorders	Associate	38016434
Hemochromatosis	Associate	29412390
Hirsutism	Associate	10521100
Hyperaldosteronism	Associate	30580688
Hyperandrogenism	Associate	10521100, 11287026, 20059433, 25736066, 26848581, 31447379, 35289513
Hyperandrogenism Nonclassic Type due to 21 Hydroxylase Deficiency	Associate	18048990, 9881898
Hypertension	Associate	32977860, 32994263
Hypoaldosteronism	Associate	31447379
Hypoglycemia	Associate	18719294
Hypokalemic Periodic Paralysis	Associate	33389921
Hypomagnesemia primary	Associate	39468716
Hypotension	Associate	40724898
Hypotrichosis	Associate	2351933
Ichthyosis X Linked	Associate	9132494
Immune dysfunction with T cell inactivation due to calcium entry defect 1	Associate	22156666, 30419250
Immunologic Deficiency Syndromes	Associate	1438261, 35008721, 9132494
Infertility	Associate	21843885, 31217034
Lymphoma Non Hodgkin	Associate	19654554, 31026237
Lymphoproliferative Disorders	Associate	39468716
Midline Defects X Linked	Associate	19921645
Muscular Dystrophy Limb Girdle Type 2L	Associate	32959514
Myelolipoma	Associate	18323673, 36992809
Obesity	Associate	12215320
Ovarian Diseases	Associate	10521100
Penis agenesis	Associate	31060112
Peripheral Arterial Disease	Associate	39649955
Pituitary ACTH Hypersecretion	Associate	21646730
Polycystic Ovary Syndrome	Associate	15705377, 27376426, 29074860, 34233642, 35255871, 37324257
Pre Eclampsia	Associate	32977860
Prostatitis	Associate	17194026
Quadricuspid Aortic Valve	Associate	19921645
Renal cell carcinoma 1	Associate	39468716
Renal Insufficiency	Associate	40724898
Spondylodysplasia And Premature Pubarche	Associate	11287026, 20059433, 21646284
Taste Disorders	Associate	11004722, 14502362, 15136096, 1644925, 19449670, 1985465, 20926536, 21264314, 21274396, 22156666, 2277381, 26291314, 2983330, 30968594, 3267225 View all (7 more)
Thyroiditis Autoimmune	Associate	36316845, 37197658
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Associate	2226916, 28669219
Triple X syndrome	Associate	36316845
Uniparental Disomy	Associate	20926536
Virilism	Associate	10724358, 11004722, 12215320, 15705377, 21274396, 23359698, 31217034, 35079965, 36316845
X Linked Combined Immunodeficiency Diseases	Associate	19624807, 39468716

CYP21A2 (cytochrome P450 family 21 subfamily A member 2)