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CYP21A2 Gene(Protein Coding)

Cytochrome P450 Family 21 Subfamily A Member 2

GCID:
GC06P032074
GIFtS:
54
Genes Participants
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Aliases for CYP21A2 Gene

Aliases for CYP21A2 Gene

  • Cytochrome P450 Family 21 Subfamily A Member 2 2 3 5
  • Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase, Congenital Adrenal Hyperplasia), Polypeptide 2 2 3
  • Cytochrome P450, Family 21, Subfamily A, Polypeptide 2 2 3
  • Steroid 21-Monooxygenase 2 3
  • Cytochrome P450-C21B 3 4
  • Cytochrome P450 XXI 3 4
  • 21-OHase 3 4
  • CYP21B 3 4
  • CYP21 3 4
  • Steroid 21 Hydroxylase 3
  • Steroid 21-Hydroxylase 3
  • Cytochrome P-450c21 4
  • Cytochrome P450-C21 4
  • Cytochrome P450 21 4
  • EC 1.14.99.10 56
  • EC 1.14.14.16 4
  • EC 1.14.99 56
  • P450c21B 3
  • CA21H 3
  • CAH1 3
  • CPS1 3

External Ids for CYP21A2 Gene

Previous HGNC Symbols for CYP21A2 Gene

  • CYP21
  • CYP21B

Previous GeneCards Identifiers for CYP21A2 Gene

  • GC06P032035
  • GC06P031776
  • GC06P032077
  • GC06P032114
  • GC06P032073

Summaries for CYP21A2 Gene

Entrez Gene Summary for CYP21A2 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 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]

GeneCards Summary for CYP21A2 Gene

CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2) is a Protein Coding gene. Diseases associated with CYP21A2 include Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency and Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Simple Virilizing Form. Among its related pathways are superpathway of steroid hormone biosynthesis and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP17A1.

UniProtKB/Swiss-Prot for CYP21A2 Gene

  • Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).

Gene Wiki entry for CYP21A2 Gene

Additional gene information for CYP21A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP21A2 Gene

Genomics for CYP21A2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CYP21A2 Gene

Promoters and enhancers for CYP21A2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH06I032038 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.8 +0.1 130 0.1 ZFHX2 CYP21A2 RNA5SP206
GH06I031567 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5.4 -459.8 -459846 22.2 HDGF PKNOX1 SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 TNF LST1 GC06P031751 GC06P031772 GC06P031932 GC06P031961 GC06P031994 GC06P032071 GC06P032075 LTB
GH06I032106 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 +73.0 72987 9.7 PKNOX1 GATA2 E2F8 ARID2 ZNF143 FOS ZNF263 SP3 RXRA REST TNXB C4A HLA-DRB1 ATF6B SKIV2L STK19 TNXA AGER CYP21A1P STK19B
GH06I032254 Promoter/Enhancer 1.4 Ensembl ENCODE 5 +217.3 217270 2.2 HDGF ZNF48 NCOA2 ZNF143 FOS ATF7 RUNX3 REST MBD2 MAFF LOC101929163 ENSG00000277427 HLA-DRB1 RNF5 HLA-DRB6 HCG23 CYP21A1P PRRT1 SKIV2L CYP21A2
GH06I032045 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 0.4 +9.0 8987 3.1 HDGF PKNOX1 ZFP64 ARID4B DMAP1 ZNF2 SLC30A9 ZNF143 FOS MXD4 TNXB C4A CYP21A1P TNXA CYP21A2 RNA5SP206
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CYP21A2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP21A2 gene promoter:

Genomic Locations for CYP21A2 Gene

Genomic Locations for CYP21A2 Gene
chr6:32,038,265-32,041,670
(GRCh38/hg38)
Size:
3,406 bases
Orientation:
Plus strand
chr6:32,006,042-32,009,447
(GRCh37/hg19)

Genomic View for CYP21A2 Gene

Genes around CYP21A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP21A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP21A2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYP21A2 Gene

Proteins for CYP21A2 Gene

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  • Protein details for CYP21A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08686-CP21A_HUMAN
    Recommended name:
    Steroid 21-hydroxylase
    Protein Accession:
    P08686
    Secondary Accessions:
    • A2BHY6
    • P04033
    • Q01204
    • Q08AG8
    • Q16749
    • Q16806
    • Q5ST44
    • Q96NU8

    Protein attributes for CYP21A2 Gene

    Size:
    494 amino acids
    Molecular mass:
    55887 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP21A2 Gene

    Alternative splice isoforms for CYP21A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP21A2 Gene

Protein Expression for CYP21A2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for CYP21A2 Gene

P08686:
  • FGCGARVCLGEPLARLE
  • QLTQEFCERMR
  • PFQVRLQPR
  • ATIAEVLRLRPVVP
  • WKAHKKLTRSALLLG
  • VAGQWRDM
  • LLHHPEIQ
  • PFLRFFP
  • EVLRLRPV
  • LHLLQPDLP
  • QDVVVLNS

Post-translational modifications for CYP21A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP21A2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for CYP21A2 Gene

Gene Families for CYP21A2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for CYP21A2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP21A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08686

UniProtKB/Swiss-Prot:

CP21A_HUMAN :
  • The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.
  • Belongs to the cytochrome P450 family.
Domain:
  • The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP21A2: view

Function for CYP21A2 Gene

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Molecular function for CYP21A2 Gene

GENATLAS Biochemistry:
cytochrome P450,family XXI (steroid 21-hydroxylase A2),microsomal,adrenocortical steroid biosynthesis,included in the YB sequence,in the same orientation
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.59 uM for 17-hydroxyprogesterone {ECO:0000269 PubMed:22014889}; KM=12.5 uM for for 17-hydroxyprogesterone (at 37 degrees Celsius) {ECO:0000269 PubMed:27721825}; KM=1.05 uM for progesterone {ECO:0000269 PubMed:22014889}; Vmax=5.8 nmol/min/mg enzyme {ECO:0000269 PubMed:22014889}; Vmax=0.5 nmol/min/mg enzyme (at 37 degrees Celsius) {ECO:0000269 PubMed:27721825};
UniProtKB/Swiss-Prot CatalyticActivity:
A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot Function:
Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).

Enzyme Numbers (IUBMB) for CYP21A2 Gene

Phenotypes From GWAS Catalog for CYP21A2 Gene

Gene Ontology (GO) - Molecular Function for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004509 steroid 21-monooxygenase activity TAS --
GO:0005496 steroid binding IEA --
GO:0005506 iron ion binding IEA --
GO:0008289 lipid binding IEA --
GO:0008395 steroid hydroxylase activity IMP 16984992
genes like me logo Genes that share ontologies with CYP21A2: view
genes like me logo Genes that share phenotypes with CYP21A2: view

Human Phenotype Ontology for CYP21A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CYP21A2 Gene

miRTarBase miRNAs that target CYP21A2

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CYP21A2 Gene

Localization for CYP21A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP21A2 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP21A2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CYP21A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP21A2 Gene

Pathways & Interactions for CYP21A2 Gene

genes like me logo Genes that share pathways with CYP21A2: view

Gene Ontology (GO) - Biological Process for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IEA,IDA 25855791
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006705 mineralocorticoid biosynthetic process TAS --
GO:0008202 steroid metabolic process IMP 16984992
GO:0016125 sterol metabolic process TAS --
genes like me logo Genes that share ontologies with CYP21A2: view

No data available for SIGNOR curated interactions for CYP21A2 Gene

Drugs & Compounds for CYP21A2 Gene

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(50) Drugs for CYP21A2 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ketoconazole Approved, Investigational Pharma Pore Blocker, Target Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 179
Hydrocortisone Approved, Vet_approved Pharma Agonist 713
Oxygen Approved, Vet_approved Pharma 0
Progesterone Approved, Vet_approved Pharma Full agonist, Activator Endogenous progesterone receptor agonist 600
Ifosfamide Approved Pharma Cytostatic agent 408

(50) Additional Compounds for CYP21A2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17-Hydroxyprogesterone
  • 17-alpha-Hydroxyprogesterone
  • 17-Hydroxypregn-4-ene-3,20-dione
  • 17-Hydroxyprogesterone
  • 17-OH Progesterone
  • 17-OHP
 68-96-2
21-deoxycortisol
  • 11b,17-Dihydroxy-Pregn-4-ene-3,20-dione
  • 11b,17-Dihydroxy-Progesterone
  • 11b,17a-Dihydroxypregn-4-ene-3,20-dione
  • 11b,17a-Dihydroxyprogesterone
  • 21-Dehydrohydrocortisone
 641-77-0
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
 53-57-6
11b-Hydroxyprogesterone
  • (11beta)-11-hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
  • 11beta-hydroxypregn-4-ene-3,20-dione
 600-57-7
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
  • 17-Hydroxypregnenolone
  • 17-OH-pregnenolone
  • 17a-Hydroxypregnolone
  • 17alpha-Hydroxypregnanolone
 387-79-1

(4) ApexBio Compounds for CYP21A2 Gene

Compound Action Cas Number
Abiraterone acetate Cytochrome p450 17a1 inhibitor 154229-18-2
Avasimibe ACAT inhibitor,orally bioavailable 166518-60-1
Ifosfamide Cytostatic agent 3778-73-2
Ketoconazole Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase 65277-42-1
genes like me logo Genes that share compounds with CYP21A2: view

Drug Products

Transcripts for CYP21A2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CYP21A2 Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP21A2 Gene

Cytochrome P450, family 21, subfamily A, polypeptide 2:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP21A2 Gene

No ASD Table

Relevant External Links for CYP21A2 Gene

GeneLoc Exon Structure for
CYP21A2
ECgene alternative splicing isoforms for
CYP21A2

Expression for CYP21A2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP21A2 Gene

mRNA expression in normal human tissues for CYP21A2 Gene
mRNA expression by BioGPS for CYP21A2 GenemRNA expression by GTEx for CYP21A2 Gene

mRNA differential expression in normal tissues according to GTEx for CYP21A2 Gene

This gene is overexpressed in Adrenal Gland (x49.8).

Protein differential expression in normal tissues from HIPED for CYP21A2 Gene

This gene is overexpressed in Adrenal (68.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP21A2 Gene



Protein tissue co-expression partners for CYP21A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP21A2 Gene:

CYP21A2

SOURCE GeneReport for Unigene cluster for CYP21A2 Gene:

Hs.654479

Evidence on tissue expression from TISSUES for CYP21A2 Gene

  • Adrenal gland(4.8)
  • Blood(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP21A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • breast
  • chest wall
  • heart
Abdomen:
  • adrenal gland
  • kidney
Pelvis:
  • penis
  • urethra
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CYP21A2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYP21A2 Gene

Orthologs for CYP21A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP21A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LOC745345 33
  • 99.39 (n)
CYP21A2 34
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia CYP21 33
  • 83.87 (n)
-- 34
  • 70 (a)
 OneToMany
-- 34
  • 67 (a)
 OneToMany
dog
(Canis familiaris)
 Mammalia CYP21A2 33
  • 82.71 (n)
CYP21 34
  • 78 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Cyp21a1 33 16 34
  • 77.49 (n)
rat
(Rattus norvegicus)
 Mammalia Cyp21a1 33
  • 76.73 (n)
oppossum
(Monodelphis domestica)
 Mammalia CYP21A2 34
  • 55 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CYP21A2 33 34
  • 55.63 (n)
lizard
(Anolis carolinensis)
 Reptilia CYP21A2 34
  • 43 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100489813 33
  • 52.78 (n)
zebrafish
(Danio rerio)
 Actinopterygii LOC793249 33
  • 51.52 (n)
cyp21a2 34
  • 38 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta spo 34
  • 19 (a)
 ManyToMany
spok 34
  • 18 (a)
 ManyToMany
Species where no ortholog for CYP21A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP21A2 Gene

ENSEMBL:
Gene Tree for CYP21A2 (if available)
TreeFam:
Gene Tree for CYP21A2 (if available)

Paralogs for CYP21A2 Gene

Paralogs for CYP21A2 Gene

(24) SIMAP similar genes for CYP21A2 Gene using alignment to 65 proteins:

genes like me logo Genes that share paralogs with CYP21A2: view

Variants for CYP21A2 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for CYP21A2 Gene

CP21A_HUMAN-P08686
Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.

Sequence variations from dbSNP and Humsavar for CYP21A2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1057519068 pathogenic, 21-hydroxylase deficiency 32,040,094(+) GCTCCTGGAAGGGC/GC coding_sequence_variant, inframe_deletion
rs1057519069 pathogenic, 21-hydroxylase deficiency 32,039,178(+) C/G/T coding_sequence_variant, missense_variant, stop_gained
rs111647200 Adrenal hyperplasia 3 (AH3) [MIM:201910] p.Ile236Asn
rs12530380 pathogenic, 21-hydroxylase deficiency, Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,039,810(+) T/A coding_sequence_variant, missense_variant
rs143240527 Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,039,593(+) A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP21A2 Gene

Variant ID Type Subtype PubMed ID
dgv10403n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10468n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
dgv10477n54 CNV loss 21841781
dgv10482n54 CNV loss 21841781
dgv10485n54 CNV gain 21841781
dgv20n31 CNV gain 19718026
esv2731825 CNV deletion 23290073
esv2759415 CNV gain+loss 17122850
esv28110 CNV gain+loss 19812545
esv3890827 CNV gain+loss 25118596
nsv1073969 CNV deletion 25765185
nsv10824 CNV gain+loss 18304495
nsv1112900 CNV deletion 24896259
nsv1126749 CNV deletion 24896259
nsv285 CNV deletion 15895083
nsv428141 CNV gain+loss 18775914
nsv433379 CNV gain 18776910
nsv5247 CNV deletion 18451855
nsv5248 CNV insertion 18451855
nsv601971 CNV gain 21841781
nsv602045 CNV gain 21841781
nsv602095 CNV loss 21841781
nsv602098 CNV gain 21841781
nsv602099 CNV gain 21841781
nsv602100 CNV loss 21841781
nsv981129 CNV duplication 23825009

Variation tolerance for CYP21A2 Gene

Residual Variation Intolerance Score: 82.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.91; 89.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP21A2 Gene

Human Gene Mutation Database (HGMD)
CYP21A2
The Human Cytochrome P450 Allele Nomenclature Database
CYP21A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP21A2

Disorders for CYP21A2 Gene

MalaCards: The human disease database

(41) MalaCards diseases for CYP21A2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CP21A_HUMAN
  • Adrenal hyperplasia 3 (AH3) [MIM:201910]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late-onset (NC or LOAH) and cryptic (asymptomatic). {ECO:0000269 PubMed:10051010, ECO:0000269 PubMed:10094562, ECO:0000269 PubMed:10198222, ECO:0000269 PubMed:10364682, ECO:0000269 PubMed:10391209, ECO:0000269 PubMed:10408778, ECO:0000269 PubMed:10408786, ECO:0000269 PubMed:10443693, ECO:0000269 PubMed:10496074, ECO:0000269 PubMed:10720040, ECO:0000269 PubMed:11232002, ECO:0000269 PubMed:11598371, ECO:0000269 PubMed:11600539, ECO:0000269 PubMed:11746135, ECO:0000269 PubMed:12213891, ECO:0000269 PubMed:12222711, ECO:0000269 PubMed:12788866, ECO:0000269 PubMed:12887291, ECO:0000269 PubMed:12915679, ECO:0000269 PubMed:1406699, ECO:0000269 PubMed:1406709, ECO:0000269 PubMed:14676460, ECO:0000269 PubMed:14715874, ECO:0000269 PubMed:1496017, ECO:0000269 PubMed:15110320, ECO:0000269 PubMed:15126570, ECO:0000269 PubMed:16046588, ECO:0000269 PubMed:1644925, ECO:0000269 PubMed:16984992, ECO:0000269 PubMed:18319307, ECO:0000269 PubMed:18381579, ECO:0000269 PubMed:18445671, ECO:0000269 PubMed:1864962, ECO:0000269 PubMed:1937474, ECO:0000269 PubMed:20080860, ECO:0000269 PubMed:2072928, ECO:0000269 PubMed:21169732, ECO:0000269 PubMed:22014889, ECO:0000269 PubMed:2303461, ECO:0000269 PubMed:27721825, ECO:0000269 PubMed:3038528, ECO:0000269 PubMed:3257825, ECO:0000269 PubMed:3260007, ECO:0000269 PubMed:3267225, ECO:0000269 PubMed:3497399, ECO:0000269 PubMed:3871526, ECO:0000269 PubMed:7749410, ECO:0000269 PubMed:8478006, ECO:0000269 PubMed:8485582, ECO:0000269 PubMed:8989258, ECO:0000269 PubMed:9067760, ECO:0000269 PubMed:9187661, ECO:0000269 PubMed:9497336, ECO:0000269 PubMed:9580109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CYP21A2 Gene

adrenal hyperplasia III,female pseudohermaphroditism,with/without salt losing;cryptic non classic and latent forms,hirsutism hyperandrogenic women,virilization with advanced somatic growth,skeletal age and false precocious puberty in male (21-OH deficiency),sometimes with uniparental disomy

Additional Disease Information for CYP21A2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for CYP21A2 Gene

  1. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. (PMID: 20080860) Tardy V … Morel Y (The Journal of clinical endocrinology and metabolism 2010) 3 4 22 44 58
  2. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID: 16046588) Grigorescu Sido A … Schulze E (The Journal of clinical endocrinology and metabolism 2005) 3 4 22 44 58
  3. Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PMID: 15110320) Zeng X … Telmer CA (Molecular genetics and metabolism 2004) 3 4 22 44 58
  4. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. (PMID: 12915679) Stikkelbroeck NM … Sistermans EA (The Journal of clinical endocrinology and metabolism 2003) 3 4 22 44 58
  5. Refractory acne and 21-hydroxylase deficiency in a selected group of female patients. (PMID: 20110635) Caputo V … Niceta M (Dermatology (Basel, Switzerland) 2010) 3 22 44 58

Products for CYP21A2 Gene

Sources for CYP21A2 Gene

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