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CYP21A2 Gene

protein-coding   GIFtS: 63
GCID: GC06P032073

Cytochrome P450, Family 21, Subfamily A, Polypeptide 2

(Previous names: cytochrome P450, subfamily XXIA (steroid 21-hydroxylase,...)
(Previous symbols: CYP21, CYP21B)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 21, Subfamily A, Polypeptide 21 2     CA21H2 5
CYP211 2 3 5     CAH12
CYP21B1 2 3     CPS12
Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase, Congenital
Adrenal Hyperplasia), Polypeptide 21 2
     P450c21B2
Steroid 21-Monooxygenase1 2     Steroid 21-Hydroxylase2
Cytochrome P450 XXI2 3     Cytochrome P-450c213
Cytochrome P450-C21B2 3     Cytochrome P450 213
21-OHase2 3     Cytochrome P450-C213
EC 1.14.99.103 8     EC 1.14.998

External Ids:    HGNC: 26001   Entrez Gene: 15892   Ensembl: ENSG000002318527   OMIM: 6138155   UniProtKB: P086863   

Export aliases for CYP21A2 gene to outside databases

Previous GC identifers: GC06P032035 GC06P031776 GC06P032077 GC06P032114


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hyperandrogenism, and classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP1A2.

UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686
Function: Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of
mineralocorticoids and glucocorticoids

Gene Wiki entry for CYP21A2 (21-Hydroxylase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_007592.16  NT_113891.3  NT_167247.2  NT_167249.2  NC_018917.2  NT_167245.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP21A2 gene promoter:
         GR   p53   ATF-2   GR-beta   CREB   deltaCREB   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP21A2 promoter sequence
   Search Chromatin IP Primers for CYP21A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP21A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

CYP21A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP21A2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P032073:  view genomic region     (about GC identifiers)

Start:
32,006,042 bp from pter      End:
32,009,447 bp from pter
Size:
3,406 bases      Orientation:
plus strand

4 alternative locations:
Chr6+,NT_167247 3,385,938-3,389,288      Chr6+,NT_113891.2 3,476,744-3,480,098      Chr6+,NT_167249 3,338,804-3,342,155     
Chr6+,NT_167245 3,285,309-3,288,663     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686 (See protein sequence)
Recommended Name: Steroid 21-hydroxylase  
Size: 494 amino acids; 55887 Da
Cofactor: Heme group
1 PDB 3D structure from and Proteopedia for CYP21A2:
2GEG (3D)    
Secondary accessions: A2BHY6 P04033 Q01204 Q08AG8 Q16749 Q16806 Q5ST44 Q96NU8
Alternative splicing: 2 isoforms:  P08686-1   P08686-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP21A2: NX_P08686

Explore proteomics data for CYP21A2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CYP21A2 (P08686) (see all 11)
     PFLRFFP  QDVVVLNS  LLHHPEIQ  EVLRLRPV 


    See CYP21A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000491.4  NP_001122062.3  

    ENSEMBL proteins: 
     ENSP00000408860   ENSP00000417321   ENSP00000419572   ENSP00000418561   ENSP00000415043  
     ENSP00000418104  
    Reactome Protein details: P08686

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP21A2
    CYP11, CYP17, CYP19, CYP20 and CYP21 families

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry P08686

    ProtoNet protein and cluster: P08686

    1 Blocks protein domain: IPB002401 E-class P450 group I signature

    UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686
    Domain: The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the
    microsomal membrane
    Similarity: Belongs to the cytochrome P450 family


    CYP21A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP21A_HUMAN, P08686
    Function: Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of
    mineralocorticoids and glucocorticoids
    Catalytic activity: A C(21) steroid + (reduced NADPH--hemoprotein reductase) + O(2) = a 21-hydroxy-C(21)-steroid +
    (oxidized NADPH--hemoprotein reductase) + H(2)O

         Genatlas biochemistry entry for CYP21A2:
    cytochrome P450,family XXI (steroid 21-hydroxylase A2),microsomal,adrenocortical steroid biosynthesis,included in
    the YB sequence,in the same orientation

         Enzyme Numbers (IUBMB): EC 1.14.99.101 2 EC 1.14.992

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity ----
    GO:0004509steroid 21-monooxygenase activity IEA--
    GO:0005496steroid binding IEA--
    GO:0005506iron ion binding IEA--
    GO:0008395steroid hydroxylase activity TAS1406709
         
    CYP21A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CYP21A2:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP21A2
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    hsa-mir-335-5p (MIRT016900)

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    4 qRT-PCR Assays for microRNAs that regulate CYP21A2:
    hsa-miR-3194-5p hsa-miR-1914* hsa-miR-3942-5p hsa-miR-1253
    SwitchGear 3'UTR luciferase reporter plasmidCYP21A2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP21A_HUMAN, P08686: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
    membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus3
    mitochondrion2
    nucleus2
    extracellular1
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--

    CYP21A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP21A2 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    cytochrome P4500.74
    Phase 1 - Functionalization of compounds0.75
    Endogenous sterols0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Biological oxidations
    Biological oxidations0.56
    metapathway biotransformation0.42
    4Steroid hormone biosynthesis
    Steroid hormone biosynthesis
    Glucocorticoid andamp; Mineralcorticoid Metabolism0.00
    5Metabolism of steroid hormones and vitamin D
    Mineralocorticoid biosynthesis0.00
    Glucocorticoid biosynthesis0.00
    Metabolism of steroid hormones and vitamin D

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for CYP21A2
        cytochrome P450
    Corticotropin-releasing hormone
    metapathway biotransformation
    Glucocorticoid & Mineralcorticoid Metabolism

    3 Reactome Pathways for CYP21A2
        Endogenous sterols
    Mineralocorticoid biosynthesis
    Glucocorticoid biosynthesis


    2 Kegg Pathways  (Kegg details for CYP21A2):
        Steroid hormone biosynthesis
    Metabolic pathways


    CYP21A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including CYP21A2: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CYP21A2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CYP21A2 (ENSP000004088604) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SQLEENSP000002658964STRING: ENSP00000265896
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006704glucocorticoid biosynthetic process TAS--
    GO:0006705mineralocorticoid biosynthetic process TAS--
    GO:0006805xenobiotic metabolic process TAS--
    GO:0008202steroid metabolic process TAS--
    GO:0016125sterol metabolic process TAS--

    CYP21A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for CYP21A2 (CP21A)

    Selected HMDB Compounds for CYP21A2 (see all 18)    About this table
    CompoundSynonyms CAS #PubMed Ids
    11b-Hydroxyprogesterone11b-Hydroxyprogesterone (see all 7)600-57-7--
    11beta-Hydroxyprogesterone ----
    17-Hydroxyprogesterone17-OHP (see all 15)68-96-2--
    17a,21-Dihydroxypreg-nenolone17alpha,21-Dihydroxypregnenolone (see all 2)1167-48-2--
    17a-Hydroxypregnenolone17-Hydroxy-D5-pregnenolone (see all 9)387-79-1--
    21-Deoxycortisol11b,17-dihydroxy-Pregn-4-ene-3,20-dione (see all 10)641-77-0--
    21-Hydroxypregnenolone(3b)-3,21-dihydroxy-Pregn-5-en-20-one (see all 9)1164-98-3--
    Cortexolone11-Deoxy-17-hydroxycorticosterone (see all 21)152-58-9--
    Corticosterone11,21-Dihydroxypregn-4-ene-3,20-dione (see all 8)50-22-6--
    Cortisol11-Hydrocortisone (see all 173)50-23-7--

    Selected Novoseek inferred chemical compound relationships for CYP21A2 gene (see all 86)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    17-hydroxyprogesterone 96.9 152 14568563 (4), 10521100 (3), 7892885 (3), 7955456 (2) (see all 99)
    21-deoxycortisol 91.5 15 8055790 (4), 10474121 (2), 8154853 (1), 10731638 (1) (see all 8)
    11 deoxycortisol 89.9 17 14568563 (2), 8881456 (1), 2065794 (1), 8081391 (1) (see all 14)
    steroid 86.9 639 12384784 (7), 11093272 (4), 12966197 (4), 7479886 (3) (see all 99)
    acth 86.6 106 11836321 (5), 10427156 (3), 9545098 (3), 1851301 (2) (see all 75)
    3beta-hydroxysteroid 85.4 69 1846006 (2), 1310416 (1), 7627274 (1), 9120982 (1) (see all 53)
    pregnanetriol 85.2 5 8348221 (1), 10199755 (1), 16608896 (1), 11150889 (1)
    pregnanetriolone 84.4 3 15579762 (1), 16608896 (1), 11150889 (1)
    androstenedione 84.1 22 1311748 (5), 10443667 (2), 15251547 (1), 9195208 (1) (see all 14)
    hydrocortisone 79.4 21 11250647 (3), 11889188 (2), 10469007 (1), 12199343 (1) (see all 16)



    CYP21A2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CYP21A2 gene (2 alternative transcripts): 
    NM_000500.7  NM_001128590.3  

    Unigene Cluster for CYP21A2:

    Cytochrome P450, family 21, subfamily A, polypeptide 2
    Hs.654479  [show with all ESTs]
    Unigene Representative Sequence: NR_040090
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000418967(uc003nze.2 uc003nzf.2) ENST00000466779 ENST00000486063
    ENST00000479074 ENST00000479730 ENST00000480027 ENST00000483041 ENST00000478281
    ENST00000488465 ENST00000471671 ENST00000435122 ENST00000469053 ENST00000464325
    ENST00000466879 ENST00000462278
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    SwitchGear 3'UTR luciferase reporter plasmidCYP21A2 3' UTR sequence
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    Additional mRNA sequence: 

    AK054616.1 AK314651.1 AM086564.1 AM086565.1 AM183945.1 AM183946.1 AM183947.1 AM183948.1 
    AM183949.1 AM183950.1 AM183951.1 BC125181.1 BC125182.1 BC128535.1 M17252.1 NR_040090.1 

    19 DOTS entries:

    DT.86854949  DT.100751256  DT.95161691  DT.121361814  DT.121361285  DT.121361953  DT.121361943  DT.100751257 
    DT.101981967  DT.121361403  DT.121361417  DT.101981968  DT.121362001  DT.446229  DT.101981969  DT.121361284 
    DT.121361298  DT.121361613  DT.121361964 

    14 AceView cDNA sequences:

    BQ637676 BX280071 BV183547 BV195500 BV206823 CD014134 M17252 AV702085 
    AA575857 AV701517 AV705196 BG105044 BV183549 BV183548 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP21A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CYP21A2 Expression
    About this image

    CYP21A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP21A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654479
        Pathway & Disease-focused RT2 Profiler PCR Array including CYP21A2: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP21A2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CYP21A2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp21a2-ps5
    Cyp21a11
    cytochrome P450, family 21, subfamily a, polypeptide more1, 5 77.49(n)1
    72.47(a)1
      17 (18.29 cM)5
    130791  NM_009995.21  NP_034125.21 
     347198135 
    chicken
    (Gallus gallus)
    Aves CYP21A21 cytochrome P450, family 21, subfamily A, polypeptide more 55.63(n)
    47.79(a)
      429828  NM_001099358.1  NP_001092828.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP21A26
    cytochrome P450, family 21, subfamily A, polypepti...
    43(a)
    1 ↔ 1
    2(198027341-198059708)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004898131 steroid 21-hydroxylase-like 52.78(n)
    46.33(a)
      100489813  XM_002941268.2  XP_002941314.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7932491 steroid 21-hydroxylase-like 51.52(n)
    45.45(a)
      793249  XM_005157927.1  XP_005157984.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta spo6
    spok6
    spookier
    19(a)
    18(a)
    many ↔ many
    many ↔ many
    3L(5583183-5585369)
    3RHet(2127184-2158789)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP21A2 gene
    CYP1A22  CYP1B12  CYP1A12  CYP17A12  
    Selected SIMAP similar genes for CYP21A2 using alignment to 65 protein entries:     CP21A_HUMAN (see all proteins) (see all similar genes):
    P450-CYP21B    CYP21A/CYP21B fusion gene    CYP21B    CYP21    CYP27B1    CYP2E1
    CYP2A7    CYP1A1    CYP2S1    CYP1B1    CYP2U1    CYP2J2
    CYP2B6    CYP2R1    CYP17A1    CYP 2C    CYP2C19    CYP2F1

    CYP21A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Polymorphic Variants from UniProtKB/Swiss-Prot
    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


    Selected SNPs for CYP21A2 (see all 91)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs125303801,2,,4
    C,F,A,HAdrenal hyperplasia 3 (AH3)4 pathogenic132007587(+) CATCGT/AGGAGA 20 /E /V mis17Minor allele frequency- A:0.07NS EA NA 478
    rs64761,2,,4
    C,F,A,HAdrenal hyperplasia 3 (AH3)4 pathogenic132007593(+) GGAGAT/AGCAGC 20 /K /M mis18Minor allele frequency- A:0.01MN NS EA NA 5072
    rs64711,2,,4
    C,A,HAdrenal hyperplasia 3 (AH3)4 pathogenic132007887(+) GGCACG/TTGCAC 20 V L mis15Minor allele frequency- T:0.48MN NA 458
    VAR_0656704
    Adrenal hyperplasia 3 (AH3)4--see VAR_0656702 L R mis40--------
    VAR_0012864
    Adrenal hyperplasia 3 (AH3)4--see VAR_0012862 I N mis40--------
    VAR_0012934
    Adrenal hyperplasia 3 (AH3)4--see VAR_0012932 G S mis40--------
    VAR_0012854
    Adrenal hyperplasia 3 (AH3)4--see VAR_0012852 C Y mis40--------
    VAR_0260734
    Adrenal hyperplasia 3 (AH3)4--see VAR_0260732 R H mis40--------
    VAR_0656784
    Adrenal hyperplasia 3 (AH3)4--see VAR_0656782 R W mis40--------
    VAR_0260834
    Adrenal hyperplasia 3 (AH3)4--see VAR_0260832 R W mis40--------

    HapMap Linkage Disequilibrium report for CYP21A2 (32006042 - 32009447 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CYP21A2 (see all 54):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731825CNV Deletion23290073
    dgv20n31CNV Duplication19718026
    nsv5248CNV Insertion18451855
    dgv6631n71CNV Loss21882294
    nsv884626CNV Loss21882294
    dgv6635n71CNV Loss21882294
    nsv285CNV Loss15895083
    dgv6624n71CNV Loss21882294
    dgv6612n71CNV Loss21882294
    dgv6613n71CNV Loss21882294

    The Human Cytochrome P450 Allele Nomenclature Database: CYP21A2 
    Human Gene Mutation Database (HGMD): CYP21A2
    Locus Specific Mutation Databases (LSDB): CYP21A2

    Site Specific Mutation Identification with PCR Assays
    1 Copy Number PCR Panel containing CYP21A2:
    Birth Defects
    SeqTarget long-range PCR primers for resequencing CYP21A2
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP21A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 613815   
    OMIM disorders: 201910  
    UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686
  • 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). Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for CYP21A2 (see all 97):    About MalaCards
    hyperandrogenism    classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form    congenital adrenal hyperplasia    21-hydroxylase deficiency
    luteoma    addison's disease    late-onset congenital adrenal hyperplasia    adrenal rest tumor
    classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form    autoimmune polyglandular syndrome type 3    acute adrenal insufficiency    3-beta-hydroxysteroid dehydrogenase deficiency
    testicular leydig cell tumor    autoimmune polyendocrine syndrome    cytochrome p450 oxidoreductase deficiency    cortisone reductase deficiency
    acanthosis nigricans    hypothalamic hamartomas    11-beta-hydroxylase deficiency    antley-bixler syndrome

    4 diseases from the University of Copenhagen DISEASES database for CYP21A2:
    Addison's disease     Hyperandrogenism     Autosomal recessive disease     Cushing's syndrome

    CYP21A2 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CYP21A2 gene (see all 92)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adrenal hyperplasia congenital 99.1 845 7955456 (3), 9595788 (3), 18773697 (3), 8168813 (3) (see all 99)
    virilization 93 67 20233785 (4), 17803691 (4), 7825636 (2), 15737123 (2) (see all 49)
    adrenogenital syndrome 88.3 15 9685841 (2), 16834664 (2), 1674383 (1), 1294431 (1) (see all 13)
    adrenal hyperplasia 87.9 55 2065794 (3), 2226916 (3), 1310999 (2), 2316563 (2) (see all 37)
    hyperandrogenism 87.3 42 9024240 (3), 19085698 (3), 10521100 (2), 11117678 (2) (see all 27)
    adrenal rest tumor 87.1 4 20190160 (2), 8258942 (1), 10720064 (1)
    addisons disease 86.4 72 9920103 (5), 8106620 (3), 14616882 (3), 7673419 (3) (see all 46)
    pseudohermaphroditism female 85.2 13 9212186 (2), 16052861 (2), 14968546 (1), 9396289 (1) (see all 10)
    antley-bixler syndrome 83.7 3 10664233 (1), 15483095 (1), 15491389 (1)
    enzyme deficiency 78.2 12 15838095 (1), 15251501 (1), 9880115 (1), 19931309 (1) (see all 8)

    Genatlas disease: CYP21A2
    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

    GeneTests: CYP21A2
    GeneReviews: CYP21A2
    Genetic Association Database (GAD): CYP21A2
    Human Genome Epidemiology (HuGE) Navigator: CYP21A2 (79 documents)

    Export disorders for CYP21A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CYP21A2 gene, integrated from 10 sources (see all 1030):
    (articles sorted by number of sources associating them with CYP21A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PubMed id 16046588)1, 2, 4, 9 Grigorescu Sido A.... Schulze E. (J. Clin. Endocrinol. Metab. 2005)
    2. Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PubMed id 15110320)1, 2, 4, 9 Zeng X....Telmer C.A. (Mol. Genet. Metab. 2004)
    3. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. (PubMed id 12915679)1, 2, 4, 9 Stikkelbroeck N.M.... Sistermans E.A. (J. Clin. Endocrinol. Metab. 2003)
    4. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. (PubMed id 20080860)1, 2, 4, 9 Tardy V.... Morel Y. (J. Clin. Endocrinol. Metab. 2010)
    5. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. (PubMed id 12887291)1, 2, 4 Dolzan V.... Battelino T. (Eur. J. Endocrinol. 2003)
    6. Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management. (PubMed id 12788866)1, 2, 4 Pinto G.... Brauner R. (J. Clin. Endocrinol. Metab. 2003)
    7. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21- hydroxylase deficiency alleles associated with the classic form of the disease. (PubMed id 10364682)1, 2, 4 Lobato M.N.... Meseguer A. (Hum. Hered. 1999)
    8. Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. (PubMed id 18445671)1, 2, 9 Riepe F.G....Holterhus P.M. (J. Clin. Endocrinol. Metab. 2008)
    9. Mutations in steroid 21-hydroxylase (CYP21). (PubMed id 8081391)1, 2, 9 White P.C.... Speiser P.W. (Hum. Mutat. 1994)
    10. The frequency of CYP 21 gene mutations in Turkish women with hyperandrogenism. (PubMed id 19085698)1, 4, 9 Kelestimur F....Witchel S.F. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1589 HGNC: 2600 AceView: CYP21A1P Ensembl:ENSG00000231852 euGenes: HUgn1589
    ECgene: CYP21A2 Kegg: 1589 H-InvDB: CYP21A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYP21A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP21A2 Genetics and Cytogenetics in Oncology and Haematology
    Cytochrome P450 Allele Nomenclature Committeehttp://www.cypalleles.ki.se/cyp21.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYP21A2[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP21A2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYP21A2 gene:
    Search GeneIP for patents involving CYP21A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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