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... See more...

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
  • Steroid 21-Hydroxylase 3 4
  • Cytochrome P450-C21B 3 4
  • Cytochrome P450 XXI 3 4
  • P450c21B 2 3
  • 21-OHase 3 4
  • CYP21B 3 4
  • CA21H 2 3
  • CYP21 3 4
  • CAH1 2 3
  • CPS1 2 3
  • Steroid 21 Hydroxylase 3
  • Cytochrome P-450c21 4
  • Cytochrome P450-C21 4
  • Cytochrome P450 21 4
  • EC 1.14.99.10 51
  • EC 1.14.14.16 4
  • EC 1.14.99 51
  • CYP21A2 5

External Ids for CYP21A2 Gene

Previous HGNC Symbols for CYP21A2 Gene

  • CYP21
  • CYP21B

Previous GeneCards Identifiers for CYP21A2 Gene

  • GC06P032035
  • GC06P031776
  • GC06P032077
  • GC06P032114
  • GC06P032073
  • GC06P032341
  • GC06P032526
  • GC06P032656
  • GC06P033435
  • GC06P032074
  • GC06P032248
  • GC06P032284

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. Among its related pathways are Metabolism of steroid hormones and Cytochrome P450 - arranged by substrate type. 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.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CYP21A2 Gene

Genomics for CYP21A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH06J032038 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 600.7 -0.7 -714 1.6 ZFHX2 HNF4A RXRA SP1 C4B-AS1 CYP21A2 NONHSAG045781.2-002 C4A STK19B C4B RF00017-5420
GH06J032005 Promoter/Enhancer 0.9 EPDnew Ensembl dbSUPER 600.3 -33.4 -33426 1.8 ZIC2 ZNF335 HNF4A HNF4G C4A-AS1 CYP21A1P NONHSAG045781.2-001 CYP21A2 STK19B ATF6B TNXA LY6G5B MICA C4B
GH06J031567 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.4 -459.9 -459908 22.2 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF512 IKZF1 ZNF692 TNF ATP6V1G2 LST1 AB675034 LTB lnc-TNF-1 LTA DDX39B LY6G5B MICB
GH06J032106 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 6.5 +72.8 72835 9.9 ARHGAP35 CTCF PRDM10 RFX1 IKZF1 POLR2A JUND ZNF143 ZIC2 PKNOX1 TNXB C4A HLA-DRB1 ATF6B SKIV2L STK19 TNXA AGER CYP21A1P STK19B
GH06J032254 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 5 +217.2 217192 2.2 CTCF TEAD4 ZNF512 IKZF1 JUND MTA2 ZNF24 REST IKZF2 POLR2A HCG23 TSBP1-AS1 piR-61101-577 HLA-DRB1 RNF5 ATF6B BRD2 HLA-DRB6 LY6G5B CYP21A1P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP21A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CYP21A2

Top Transcription factor binding sites by QIAGEN in the CYP21A2 gene promoter:
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • GR
  • GR-alpha
  • GR-beta
  • p53

Genomic Locations for CYP21A2 Gene

Genomic Locations for CYP21A2 Gene
chr6:32,038,327-32,041,644
(GRCh38/hg38)
Size:
3,318 bases
Orientation:
Plus strand
chr6:32,006,042-32,009,447
(GRCh37/hg19)
Size:
3,406 bases
Orientation:
Plus strand

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 StructureGene Density

Proteins for CYP21A2 Gene

  • 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

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

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 intracellular proteins

Protein Domains for CYP21A2 Gene

InterPro:
Blocks:
  • E-class P450 group I signature
ProtoNet:

Suggested Antigen Peptide Sequences for CYP21A2 Gene

GenScript: Design optimal peptide antigens:
  • CYP21A2 protein (A1A5B1_HUMAN)
  • Steroid 21-hydroxylase (A2BHY6_HUMAN)
  • Steroid 21-hydroxylase (A6ZI22_HUMAN)
  • Steroid 21 hydroxylase (A8W368_HUMAN)
  • Steroid 21-hydroxylase (A9UF27_HUMAN)

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

Molecular function for CYP21A2 Gene

UniProtKB/Swiss-Prot Function:
Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.; EC=1.14.14.16; Evidence={ECO:0000269|PubMed:16984992, ECO:0000269|PubMed:22014889, ECO:0000269|PubMed:25855791, ECO:0000269|PubMed:27721825};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.59 uM for 17-hydroxyprogesterone {ECO:0000269|PubMed:22014889}; KM=12.5 uM 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};
GENATLAS Biochemistry:
cytochrome P450,family XXI (steroid 21-hydroxylase A2),microsomal,adrenocortical steroid biosynthesis,included in the YB sequence,in the same orientation

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:0004497 monooxygenase activity IEA --
GO:0004509 steroid 21-monooxygenase activity TAS --
GO:0005496 steroid binding IEA --
GO:0005506 iron ion binding IEA --
GO:0008289 lipid binding IEA --
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

CRISPR Products

miRNA for CYP21A2 Gene

miRTarBase miRNAs that target CYP21A2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP21A2

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
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
cytoskeleton 1
peroxisome 1
cytosol 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

Interacting Proteins for CYP21A2 Gene

Selected Interacting proteins: P08686-CP21A_HUMAN for CYP21A2 Gene via IID

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

(53) 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 Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 194
Hydrocortisone Approved, Vet_approved Pharma Agonist 897
Oxygen Approved, Vet_approved Pharma 0
Progesterone Approved, Vet_approved Pharma Activator, Full agonist, Agonist, Pore Blocker, Inhibition Endogenous progesterone receptor agonist 755
Ifosfamide Approved Pharma Cytostatic agent 447

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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
11b-Hydroxyprogesterone
  • (11beta)-11-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxyprogesterone
  • 11beta-Hydroxypregn-4-ene-3,20-dione
  • 11beta-Hydroxyprogesterone
600-57-7
17a-Hydroxypregnenolone
  • (3beta)-3,17-Dihydroxypregn-5-en-20-one
  • 17-Hydroxypregnenolone
  • 5-Pregnen-3beta,17alpha-diol-20-one
  • (3b)-3,17-Dihydroxypregn-5-en-20-one
  • (3β)-3,17-dihydroxypregn-5-en-20-one
387-79-1
17alpha,21-Dihydroxypregnenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
  • 17, 21-Dihydroxypregnenolone
  • 3β,17α,21-Trihydroxypregnenone
  • 3beta,17alpha,21-Trihydroxypregnenone
1167-48-2
21-Hydroxypregnenolone
  • (3beta)-3,21-Dihydroxypregn-5-en-20-one
  • (3b)-3,21-Dihydroxypregn-5-en-20-one
  • (3β)-3,21-dihydroxypregn-5-en-20-one
  • (3b)-3,21-Dihydroxy-pregn-5-en-20-one
  • 3b,21-Dihydroxy-5-pregnen-20-one
1164-98-3

(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

mRNA/cDNA for CYP21A2 Gene

4 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CYP21A2

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

No ASD Table

Relevant External Links for CYP21A2 Gene

GeneLoc Exon Structure for
CYP21A2

Expression for CYP21A2 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for CYP21A2 Gene



Protein tissue co-expression partners for CYP21A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CYP21A2

SOURCE GeneReport for Unigene cluster for CYP21A2 Gene:

Hs.654479

Evidence on tissue expression from TISSUES for CYP21A2 Gene

  • Adrenal gland(4.9)
  • Blood(4.4)
  • Liver(2.3)
  • Muscle(2.1)

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 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 30
  • 99.39 (n)
CYP21A2 31
  • 99 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia CYP21 30
  • 83.87 (n)
-- 31
  • 70 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia CYP21A2 30
  • 82.71 (n)
CYP21 31
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Cyp21a1 30 17 31
  • 77.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cyp21a1 30
  • 76.73 (n)
Oppossum
(Monodelphis domestica)
Mammalia CYP21A2 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CYP21A2 30 31
  • 55.63 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CYP21A2 31
  • 43 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100489813 30
  • 52.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC793249 30
  • 51.52 (n)
cyp21a2 31
  • 38 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta spo 31
  • 19 (a)
ManyToMany
spok 31
  • 18 (a)
ManyToMany
Species where no ortholog for CYP21A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CYP21A2: view image

Paralogs for CYP21A2 Gene

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

  • CP21A_HUMAN
  • A1A5B1_HUMAN
  • A5HSJ6_HUMAN
  • A6ZI22_HUMAN
  • A8W368_HUMAN
  • A9UF27_HUMAN
  • A9UF28_HUMAN
  • B2D081_HUMAN
  • B2YHV6_HUMAN
  • B2YHV7_HUMAN
  • B6VE01_HUMAN
  • B8YJC6_HUMAN
  • C6K7H0_HUMAN
  • C6K7H1_HUMAN
  • C7DTU9_HUMAN
  • C7DTV0_HUMAN
  • C7DTV1_HUMAN
  • C7DTV6_HUMAN
  • C7DTW1_HUMAN
  • C7DTW2_HUMAN
  • C7DTW4_HUMAN
  • C7DTW5_HUMAN
  • C7DTW8_HUMAN
  • C7DTX2_HUMAN
  • C7DTX7_HUMAN
  • C7DTX8_HUMAN
  • C7DTX9_HUMAN
  • C7DTY1_HUMAN
  • C7DTY4_HUMAN
  • C7DTY5_HUMAN
  • C7DTZ2_HUMAN
  • C7DU00_HUMAN
  • C7DU02_HUMAN
  • C7DU04_HUMAN
  • C7DU10_HUMAN
  • C7DU17_HUMAN
  • E7EN87_HUMAN
  • E7ERT7_HUMAN
  • E7EVC0_HUMAN
  • E9M5C7_HUMAN
  • E9M5C8_HUMAN
  • E9M5C9_HUMAN
  • E9M5D0_HUMAN
  • E9M5D1_HUMAN
  • F8WBR4_HUMAN
  • K9LHU1_HUMAN
  • K9LHU7_HUMAN
  • K9LHV1_HUMAN
  • K9LHV3_HUMAN
  • K9LII5_HUMAN
  • K9LII7_HUMAN
  • K9LIR4_HUMAN
  • Q08AG9_HUMAN
  • Q16742_HUMAN
  • Q1EM51_HUMAN
  • Q1EM52_HUMAN
  • Q1EM53_HUMAN
  • Q1H8Y2_HUMAN
  • Q1H8Y3_HUMAN
  • Q1H8Y4_HUMAN
  • Q1H8Y5_HUMAN
  • Q2UVX5_HUMAN
  • Q2UVX6_HUMAN
  • U5YU50_HUMAN
  • V5WC48_HUMAN
genes like me logo Genes that share paralogs with CYP21A2: view

No data available for Paralogs for CYP21A2 Gene

Variants for CYP21A2 Gene

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CYP21A2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
12175 Pathogenic: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 32,040,926(+) G/A MISSENSE_VARIANT
12176 Pathogenic: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 32,038,505(+) T/TC FRAMESHIFT_VARIANT,FIVE_PRIME_UTR_VARIANT
12177 Pathogenic: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 32,039,092(+) A/G SPLICE_ACCEPTOR_VARIANT,FIVE_PRIME_UTR_VARIANT
12179 Pathogenic: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 32,040,871(+) C/T MISSENSE_VARIANT
12181 Pathogenic: Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 32,040,675(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CYP21A2 Gene

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

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

Disorders for CYP21A2 Gene

MalaCards: The human disease database

(67) MalaCards diseases for CYP21A2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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
Open Targets Platform
genes like me logo Genes that share disorders with CYP21A2: view

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 23 41
  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 23 41
  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 23 41
  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 23 41
  5. Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers. (PMID: 20059433) Paris F … Sultan C (Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2010) 3 23 41

Products for CYP21A2 Gene

Sources for CYP21A2 Gene