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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 61
  • EC 1.14.14.16 4
  • EC 1.14.99 61
  • 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

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 Cytochrome P450 - arranged by substrate type and Metabolism of steroid hormones. 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

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

Genomics for CYP21A2 Gene

Regulatory Elements for CYP21A2 Gene

Enhancers for CYP21A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F032106 1.4 FANTOM5 Ensembl ENCODE 6.5 +73.0 72987 9.7 PKNOX1 SIN3A GATA2 ZNF143 FOS ZNF263 SP3 REST SSRP1 RFX3 C4A HLA-DRB1 ATF6B SKIV2L STK19 TNXA AGER CYP21A1P STK19B TNXB
GH06F031567 1.3 FANTOM5 Ensembl ENCODE 5.4 -460.0 -459995 22.5 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 DDX39B TNF LY6G5B DHX16 ATF6B LSM2 MICA TCF19 C6orf47 PPT2
GH06F032254 0.6 ENCODE 5 +217.3 217271 2.2 TBP HDAC1 CBX3 NFXL1 ZNF48 RAD21 RFX5 GATA2 RCOR1 FOS HLA-DRB1 RNF5 HLA-DRB6 HCG23 CYP21A1P PRRT1 SKIV2L CYP21A2 ENSG00000277427 LOC101929163
GH06F032036 0.2 Ensembl 0.8 -0.8 -765 1.4 ZNF335 ZNF121 ZFHX2 HNF4G ZIC2 C4A CYP21A2 C4B-AS1
GH06F032045 1 Ensembl ENCODE 0.4 +9.0 8988 3.1 HDGF ATF1 PKNOX1 ZFP64 ARID4B DMAP1 ZNF48 ZNF2 SLC30A9 GLIS2 C4A CYP21A1P TNXA CYP21A2 RNA5SP206
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CYP21A2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP21A2 Gene

Chromosome:
6
Start:
32,038,265 bp from pter
End:
32,041,670 bp from pter
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

Post-translational modifications for CYP21A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP21A2 Gene

Domains & Families for CYP21A2 Gene

Gene Families for CYP21A2 Gene

Protein Domains for CYP21A2 Gene

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

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=1.05 uM for progesterone {ECO:0000269 PubMed:22014889};
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

Gene Ontology (GO) - Molecular Function for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004509 steroid 21-monooxygenase activity IDA,TAS --
GO:0005496 steroid binding IEA --
GO:0005506 iron ion binding IEA --
GO:0008289 lipid binding IEA --
GO:0008395 steroid hydroxylase activity IMP,TAS 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

Flow Cytometry 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
Jensen Localization Image for CYP21A2 Gene COMPARTMENTS Subcellular localization image for CYP21A2 gene
Compartment Confidence
golgi apparatus 3
endoplasmic reticulum 2
extracellular 1
mitochondrion 1
nucleus 1
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 IEA,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

Pathways & Interactions 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: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

(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 174
Hydrocortisone Approved, Vet_approved Pharma Agonist Adrenal glucocorticoid; immunosuppressant 640
Oxygen Approved, Vet_approved Pharma 0
Progesterone Approved, Vet_approved Pharma Full agonist, Activator Endogenous progesterone receptor agonist 537
Ifosfamide Approved Pharma Cytostatic agent 391

(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,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone
1167-48-2

(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

Transcripts for CYP21A2 Gene

mRNA/cDNA for CYP21A2 Gene

Unigene Clusters for CYP21A2 Gene

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

Inhibitory RNA Products

Flow Cytometry 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

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 (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
genes like me logo Genes that share expression patterns with CYP21A2: view

Primer Products

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 34
  • 99.39 (n)
CYP21A2 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CYP21 34
  • 83.87 (n)
-- 35
  • 70 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CYP21A2 34
  • 82.71 (n)
CYP21 35
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp21a1 34 16 35
  • 77.49 (n)
rat
(Rattus norvegicus)
Mammalia Cyp21a1 34
  • 76.73 (n)
oppossum
(Monodelphis domestica)
Mammalia CYP21A2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CYP21A2 34 35
  • 55.63 (n)
lizard
(Anolis carolinensis)
Reptilia CYP21A2 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489813 34
  • 52.78 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC793249 34
  • 51.52 (n)
cyp21a2 35
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta spo 35
  • 19 (a)
ManyToMany
spok 35
  • 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

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

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 from dbSNP and Humsavar for CYP21A2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs111647200 Adrenal hyperplasia 3 (AH3) [MIM:201910]
rs12530380 Adrenal hyperplasia 3 (AH3) [MIM:201910], Pathogenic 32,039,810(+) CATCG(A/T)GGAGA reference, missense
rs143240527 Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,039,593(+) GTGTT(A/T)AAAAC reference, missense
rs151344504 Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,040,926(+) TGCCC(A/G)CGTGT downstream-variant-500B, reference, missense
rs184649564 Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,041,085(+) AGTGC(A/G/T)GCTGC downstream-variant-500B, reference, missense

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
  • hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
  • classic 21-ohd cah, simple virilizing form
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
  • classic 21-ohd cah, salt wasting form
luteoma
  • leuteoma of pregnancy
testicular leydig cell tumor
  • testicular leydig cell neoplasm
- 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:1937474, ECO:0000269 PubMed:20080860, ECO:0000269 PubMed:2072928, ECO:0000269 PubMed:21169732, ECO:0000269 PubMed:22014889, 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.

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

Genetic Association Database (GAD)
CYP21A2
Human Genome Epidemiology (HuGE) Navigator
CYP21A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP21A2
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. (J. Clin. Endocrinol. Metab. 2010) 3 4 22 46 64
  2. 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 22 46 64
  3. Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PMID: 15110320) Zeng X. … Telmer C.A. (Mol. Genet. Metab. 2004) 3 4 22 46 64
  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 N.M. … Sistermans E.A. (J. Clin. Endocrinol. Metab. 2003) 3 4 22 46 64
  5. Refractory acne and 21-hydroxylase deficiency in a selected group of female patients. (PMID: 20110635) Caputo V. … Niceta M. (Dermatology (Basel) 2010) 3 22 46 64

Products for CYP21A2 Gene

Sources for CYP21A2 Gene

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