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Tchem
CYP21A2
Steroid 21-hydroxylase

Protein Summary
Description
Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889). 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 localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000383321
  • ENSP00000372811
  • ENSG00000206338
  • ENST00000434026
  • ENSP00000392321
  • ENSG00000232414
  • ENST00000435122
  • ENSP00000415043
  • ENSG00000231852
  • ENST00000436607
  • ENSP00000403721
  • ENSG00000235134
  • ENST00000448314
  • ENSP00000398594
  • ENSG00000198457
  • ENST00000452386
  • ENSP00000403230
  • ENSG00000233151

Symbol
  • CYP21
  • CYP21B
  • CAH1
  • CPS1
  • CA21H
  • CYP21
  • CYP21B
  • P450c21B
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological term
0.91
disease
0.77
molecular function
0.67
pathway
0.65
cell type or tissue
0.61


Related Tools
Target Illumination GWAS Analytics (TIGA)
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TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
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GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 954.3   (req: < 5)
Gene RIFs: 202   (req: <= 3)
Antibodies: 297   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 954.3   (req: >= 5)
Gene RIFs: 202   (req: > 3)
Antibodies: 297   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligands: 58
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Active Ligands (58)
1 – 10 of 58
CHEMBL4289930
Rendered image for CHEMBL4289930
CHEMBL3980889
Rendered image for CHEMBL3980889
CHEMBL3938615
Rendered image for CHEMBL3938615
CHEMBL3960724
Rendered image for CHEMBL3960724
CHEMBL3968178
Rendered image for CHEMBL3968178
CHEMBL3891718
Rendered image for CHEMBL3891718
CHEMBL3952032
Rendered image for CHEMBL3952032
CHEMBL3913908
Rendered image for CHEMBL3913908
CHEMBL3922888
Rendered image for CHEMBL3922888
CHEMBL3964421
Rendered image for CHEMBL3964421
GWAS Traits (356)
Items per page:
1 – 5 of 356
GWAS Trait
EFO ID
ENSG ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
9
10
0
1.9
99.3
9
10
0
1.9
99.3
9
10
0
1.9
99.3
9
10
0
1.9
99.3
6
6
0
2.3
99.2
Items per page:
1 – 5 of 356
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
0
1.9
99.3
0
1.9
99.3
0
1.9
99.3
0
1.9
99.3
0
2.3
99.2
Orthologs (5)
1 – 5 of 5
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Dog
cytochrome P450c21
415124
Cow
cytochrome P450, subfamily XXI (steroid 21-hydroxylase)
281741
Pig
cytochrome P450, family 21, subfamily A, polypepide 2
403337
Xenopus
cytochrome P450 family 21 subfamily A member 2
XB-GENE-480647
100489813
Zebrafish
ZDB-GENE-070103-6
793249
Species
Name
OMA
EggNOG
Inparanoid
Dog
cytochrome P450c21
Cow
cytochrome P450, subfamily XXI (steroid 21-hydroxylase)
Pig
cytochrome P450, family 21, subfamily A, polypepide 2
Xenopus
cytochrome P450 family 21 subfamily A member 2
Zebrafish
Protein Structure (2 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-P08686-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 2 of 2
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (60)
Biological oxidations (R-HSA-211859)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 14
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Biological oxidations
Reactome
Cytochrome P450 - arranged by substrate type
Reactome
Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
Reactome
Disease
Reactome
Diseases of metabolism
Name
Explore in Pharos
Explore in Source
Biological oxidations
Cytochrome P450 - arranged by substrate type
Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
Disease
Diseases of metabolism
Gene Ontology Terms (12)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Mutant Phenotype (IMP)
UniProtKB
Inferred from Electronic Annotation (IEA)
InterPro
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (71)
1 – 10 of 71
HSD3B2
Tclin
Family:  Enzyme
Novelty:  0.00711552
Score:  0.979
Data Source:  STRINGDB
HSD3B1
Tchem
Family:  Enzyme
Novelty:  0.0019271
Score:  0.97
Data Source:  STRINGDB
HSD11B2
Tchem
Family:  Enzyme
Novelty:  0.00182237
Score:  0.964
Data Source:  STRINGDB
CYP11B1
Tclin
Family:  Enzyme
Novelty:  0.00195229
Score:  0.948
Data Source:  STRINGDB
CYP11B2
Tchem
Novelty:  0.00128614
Score:  0.946
Data Source:  STRINGDB
SRD5A2
Tclin
Family:  Enzyme
Novelty:  0.00281044
Score:  0.946
Data Source:  STRINGDB
CYP11A1
Tclin
Family:  Enzyme
Novelty:  0.00096368
Score:  0.944
Data Source:  STRINGDB
HSD11B1
Tclin
Family:  Enzyme
Novelty:  0.00105097
Score:  0.943
Data Source:  STRINGDB
CYP17A1
Tclin
Family:  Enzyme
Novelty:  0.00065091
Score:  0.924
Data Source:  STRINGDB
SRD5A1
Tclin
Family:  Enzyme
Novelty:  0.00987219
Score:  0.923
Data Source:  STRINGDB
Publication Statistics
PubMed Score  954.30

PubMed score by year
PubTator Score  975.12

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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