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Aliases for CYP21A2 Gene

Aliases for CYP21A2 Gene

  • Cytochrome P450, Family 21, Subfamily A, Polypeptide 2 2 3
  • CYP21 3 4 6
  • Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase, Congenital Adrenal Hyperplasia), Polypeptide 2 2 3
  • Steroid 21-Monooxygenase 2 3
  • Cytochrome P450-C21B 3 4
  • Cytochrome P450 XXI 3 4
  • EC 1.14.99.10 4 64
  • 21-OHase 3 4
  • CYP21B 3 4
  • CA21H 3 6
  • Steroid 21-Hydroxylase 3
  • Cytochrome P-450c21 4
  • Cytochrome P450-C21 4
  • Cytochrome P450 21 4
  • EC 1.14.99 64
  • P450c21B 3
  • Cps1 3
  • CAH1 3

External Ids for CYP21A2 Gene

Previous Symbols for CYP21A2 Gene

  • CYP21
  • CYP21B

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, Polypeptide 2) is a Protein Coding gene. Diseases associated with CYP21A2 include late-onset congenital adrenal hyperplasia and adrenal rest tumor. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and heme binding. 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

Gene Wiki entry for CYP21A2 Gene

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

Genomics for CYP21A2 Gene

Genomic Location for CYP21A2 Gene

Start:
32,035,476 bp from pter
End:
32,041,670 bp from pter
Size:
6,195 bases
Orientation:
Plus strand

Genomic View for CYP21A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP21A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for CYP21A2 Gene

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

Proteomics data for CYP21A2 Gene at MOPED

Post-translational modifications for CYP21A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP21A2 Gene

Domains for CYP21A2 Gene

Gene Families for CYP21A2 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP21A2 Gene

UniProtKB/Swiss-Prot:

CP21A_HUMAN
Domain:
  • The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane:
    • P08686
Family:
  • Belongs to the cytochrome P450 family.:
    • P08686
genes like me logo Genes that share domains with CYP21A2: view

Function for CYP21A2 Gene

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 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

Enzyme Numbers (IUBMB) for CYP21A2 Gene

Gene Ontology (GO) - Molecular Function for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity --
GO:0004509 steroid 21-monooxygenase activity IEA --
GO:0005496 steroid binding IEA --
GO:0005506 iron ion binding IEA --
GO:0008395 steroid hydroxylase activity TAS 1406709
genes like me logo Genes that share ontologies with CYP21A2: view

Phenotypes for CYP21A2 Gene

GenomeRNAi human phenotypes for CYP21A2:
genes like me logo Genes that share phenotypes with CYP21A2: view

miRNA for CYP21A2 Gene

miRTarBase miRNAs that target CYP21A2

No data available for Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for CYP21A2 Gene COMPARTMENTS Subcellular localization image for CYP21A2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
mitochondrion 2
nucleus 2
extracellular 1
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane TAS --
genes like me logo Genes that share ontologies with CYP21A2: view

Pathways for CYP21A2 Gene

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

Interacting Proteins for CYP21A2 Gene

Gene Ontology (GO) - Biological Process for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006705 mineralocorticoid biosynthetic process TAS --
GO:0006805 xenobiotic metabolic process TAS --
GO:0008202 steroid metabolic process TAS --
GO:0016125 sterol metabolic process TAS --
genes like me logo Genes that share ontologies with CYP21A2: view

Compounds for CYP21A2 Gene

(18) HMDB Compounds for CYP21A2 Gene

Compound Synonyms Cas Number PubMed IDs
11beta-Hydroxyprogesterone
Not Available
11b-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
600-57-7
17a,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
1167-48-2
17a-Hydroxypregnenolone
  • 17-Hydroxy-D5-pregnenolone
387-79-1
17-Hydroxyprogesterone
  • 17-OHP
68-96-2

(86) Novoseek inferred chemical compound relationships for CYP21A2 Gene

Compound -log(P) Hits PubMed IDs
17-hydroxyprogesterone 96.9 119
21-deoxycortisol 91.5 12
11 deoxycortisol 89.9 15
steroid 86.9 221
acth 86.6 90
genes like me logo Genes that share compounds with CYP21A2: view

Transcripts for CYP21A2 Gene

mRNA/cDNA for CYP21A2 Gene

Unigene Clusters for CYP21A2 Gene

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

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

mRNA expression in normal human tissues for CYP21A2 Gene

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

This gene is overexpressed in Adrenal Gland (49.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CYP21A2 Gene

SOURCE GeneReport for Unigene cluster for CYP21A2 Gene Hs.654479

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

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 CYP21A2 37
  • 99 (a)
OneToOne
LOC745345 36
  • 99.39 (n)
  • 99.19 (a)
cow
(Bos Taurus)
Mammalia -- 37
  • 70 (a)
OneToMany
-- 37
  • 67 (a)
OneToMany
CYP21 36
  • 83.87 (n)
  • 80.3 (a)
dog
(Canis familiaris)
Mammalia CYP21 37
  • 78 (a)
OneToOne
CYP21A2 36
  • 82.71 (n)
  • 78.03 (a)
mouse
(Mus musculus)
Mammalia Cyp21a1 36
  • 77.49 (n)
  • 72.47 (a)
Cyp21a1 37
  • 72 (a)
OneToOne
Cyp21a2-ps 16
oppossum
(Monodelphis domestica)
Mammalia CYP21A2 37
  • 55 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp21a1 36
  • 76.73 (n)
  • 70.88 (a)
chicken
(Gallus gallus)
Aves CYP21A2 36
  • 55.63 (n)
  • 47.79 (a)
CYP21A2 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP21A2 37
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489813 36
  • 52.78 (n)
  • 46.33 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp21a2 37
  • 38 (a)
OneToOne
LOC793249 36
  • 51.52 (n)
  • 45.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta spo 37
  • 19 (a)
ManyToMany
spok 37
  • 18 (a)
ManyToMany
Species with no ortholog for CYP21A2:
  • 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

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

Variants for CYP21A2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYP21A2 Gene

P08686-CP21A_HUMAN
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 Sequence Context AA Info Type MAF
rs6442 -- 32,040,216(+) TCCTG(C/G)GGACA intron-variant
rs6448 -- 32,038,826(+) GGGGG(A/C)Atttt intron-variant
rs6449 -- 32,038,878(+) CTATG(C/T)TGCCC intron-variant
rs6450 -- 32,039,020(+) GGTTG(A/G)GGAGG intron-variant
rs6451 -- 32,039,027(+) GAGGC(A/C/G)GAAGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1928e1 CNV Complex 17122850
nsv428141 CNV Gain+Loss 18775914
dgv1929e1 CNV Complex 17122850
dgv6604n71 CNV Loss 21882294
nsv284 CNV Loss 15895083
nsv5247 CNV Loss 18451855
dgv6607n71 CNV Loss 21882294
dgv6608n71 CNV Gain 21882294
dgv6610n71 CNV Gain 21882294
dgv6612n71 CNV Loss 21882294
dgv6613n71 CNV Loss 21882294
dgv6614n71 CNV Gain 21882294
dgv6615n71 CNV Gain 21882294
dgv6616n71 CNV Gain+Loss 21882294
esv28110 CNV Gain+Loss 19812545
dgv6617n71 CNV Gain+Loss 21882294
nsv10824 CNV Gain+Loss 18304495
dgv6620n71 CNV Gain 21882294
nsv819957 CNV Loss 19587683
dgv6621n71 CNV Gain 21882294
dgv6622n71 CNV Gain+Loss 21882294
nsv884617 CNV Gain 21882294
dgv20n31 CNV Duplication 19718026
nsv884626 CNV Loss 21882294
nsv884627 CNV Loss 21882294
dgv6623n71 CNV Loss 21882294
dgv6624n71 CNV Loss 21882294
dgv6625n71 CNV Gain 21882294
nsv823506 CNV Loss 20364138
nsv823507 CNV Loss 20364138
esv32938 CNV Gain 17666407
dgv6626n71 CNV Gain+Loss 21882294
dgv6627n71 CNV Gain 21882294
dgv6628n71 CNV Loss 21882294
dgv6629n71 CNV Loss 21882294
nsv884657 CNV Gain 21882294
dgv6630n71 CNV Gain+Loss 21882294
dgv6631n71 CNV Loss 21882294
nsv823508 CNV Gain 20364138
nsv884663 CNV Gain 21882294
nsv884664 CNV Gain 21882294
nsv285 CNV Loss 15895083
esv2731825 CNV Deletion 23290073
dgv6633n71 CNV Gain 21882294
nsv884671 CNV Gain 21882294
dgv6634n71 CNV Loss 21882294
nsv433379 CNV Gain 18776910
dgv6635n71 CNV Loss 21882294
dgv6636n71 CNV Loss 21882294
nsv884677 CNV Gain 21882294
nsv5248 CNV Insertion 18451855
dgv6637n71 CNV Gain 21882294
nsv884682 CNV Gain 21882294
nsv884683 CNV Loss 21882294

Relevant External Links for CYP21A2 Gene

HapMap Linkage Disequilibrium report
CYP21A2
Human Gene Mutation Database (HGMD)
CYP21A2
Locus Specific Mutation Databases (LSDB)
CYP21A2
The Human Cytochrome P450 Allele Nomenclature Database
CYP21A2

Disorders for CYP21A2 Gene

(1) OMIM Diseases for CYP21A2 Gene (613815)

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:18319307, ECO:0000269 PubMed:18381579, ECO:0000269 PubMed:18445671, ECO:0000269 PubMed:1937474, ECO:0000269 PubMed:20080860, ECO:0000269 PubMed:2072928, ECO:0000269 PubMed:2303461, 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: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.

(92) Novoseek inferred disease relationships for CYP21A2 Gene

Disease -log(P) Hits PubMed IDs
adrenal hyperplasia congenital 99.1 208
virilization 93 59
adrenogenital syndrome 88.3 15
adrenal hyperplasia 87.9 43
hyperandrogenism 87.3 35

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

Relevant External Links for CYP21A2

GeneTests
CYP21A2
GeneReviews
CYP21A2
Genetic Association Database (GAD)
CYP21A2
Human Genome Epidemiology (HuGE) Navigator
CYP21A2
genes like me logo Genes that share disorders with CYP21A2: view

Publications for CYP21A2 Gene

  1. 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 N.M. … Sistermans E.A. (J. Clin. Endocrinol. Metab. 2003) 3 4 23 49
  2. Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PMID: 15110320) Zeng X. … Telmer C.A. (Mol. Genet. Metab. 2004) 3 4 23 49
  3. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID: 16046588) Grigorescu Sido A. … Schulze E. (J. Clin. Endocrinol. Metab. 2005) 3 4 23 49
  4. 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. (J. Clin. Endocrinol. Metab. 2010) 3 4 23 49
  5. Refractory acne and 21-hydroxylase deficiency in a selected group of female patients. (PMID: 20110635) Caputo V. … Niceta M. (Dermatology (Basel) 2010) 3 23 49

Products for CYP21A2 Gene

Sources for CYP21A2 Gene

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