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CYP21A2 (cytochrome P450 family 21 subfamily A member 2)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1589
Gene nameGene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 21 subfamily A member 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CYP21A2
SynonymsGene synonyms aliases
CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B
ChromosomeChromosome number
6
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
SummarySummary of gene provided in NCBI Entrez Gene.
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
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
GO ID Ontology Definition Evidence Reference
GO:0004509 Function Steroid 21-monooxygenase activity IBA 21873635
GO:0004509 Function Steroid 21-monooxygenase activity TAS
GO:0005496 Function Steroid binding IEA
GO:0005506 Function Iron ion binding IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Sequence length 494
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
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)
Associated diseases
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Complement component deficiency COMPLEMENT COMPONENT 2 DEFICIENCY, COMPLEMENT FACTOR B DEFICIENCY rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814 1577763
Congenital adrenal hyperplasia Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form, Congenital adrenal hyperplasia, Congenital adrenal hyperplasia due to 21 hydroxylase deficiency, Late onset congenital adrenal hyperplasia rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098 16705555, 18445671, 10364682, 20926536, 12788866, 14715874, 9067760, 2303461, 10094562, 3497399, 16984992, 9580109, 12915679, 15126570, 9497336, 2072928, 15623806, 1496017, 1864962, 3257825, 26184415, 20661889, 12788880, 12213891, 14676460, 21134444, 27721825, 8989258, 8081391, 25227725, 2249999, 25538881, 17119906, 1644925, 22014889, 18445671, 25121463, 16046588, 3267225, 21098686, 10720040, 1406709, 12887291, 22313422, 11598371, 12222711, 21228398, 23769969, 18381579, 10931088, 24667412, 20080860, 7749410, 16427797, 10496074, 15110320, 23359698, 11746135, 24953648, 1937474, 24671123, 1406699, 22270556, 21609351, 3871526, 24077358, 10443693, 11232002, 9187661, 3038528, 10408778, 18319307, 2845408, 10198222, 10408786, 25481255, 19263525, 11600539, 23359706, 8478006, 16483186, 10051010, 10391209, 8485582, 20838032, 25041270, 19750867, 23142378, 3260007, 21169732, 22262854, 14513879, 9215318
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 30104761, 29212778, 28714975
Diabetes Diabetes rs80356611 31451708
Unknown
Disease name Disease term dbSNP ID References
Adrenal hyperplasia Adrenal hyperplasia
Adrenogenital syndrome Adrenogenital Syndrome
Autoimmune thyroiditis Autoimmune thyroiditis 25936594
Coronary heart disease Coronary heart disease rs9289231, rs281864746 21971053

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