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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP21A2 Gene

protein-coding   GIFtS: 61
GCID: GC06P032077

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)
About This Section

Aliases
Cytochrome P450, Family 21, Subfamily A, Polypeptide 21 2     EC 1.14.99.103 8
CYP211 2 3     CA21H2
CYP21B1 2 3     CAH12
Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase, Congenital
Adrenal Hyperplasia), Polypeptide 21 2
     CPS12
Steroid 21-Monooxygenase1 2     P450c21B2
Cytochrome P450 212 3     Steroid 21-Hydroxylase2
Cytochrome P450 XXI2 3     Cytochrome P-450c213
Cytochrome P450-C21B2 3     Cytochrome P450-C213
21-OHase2 3     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 GC06P032114


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 21-hydroxylase deficiency, and addison's disease, and among its related super-pathways are Cytochrome P450 - arranged by substrate type and Glucocorticoid biosynthesis. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167247.1  NT_167249.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CYP21A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC06P032077:  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_167245 3,285,309-3,288,663      Chr6+,NT_167249 3,338,804-3,342,155      Chr6+,NT_113891.2 3,476,744-3,480,098     
Chr6+,NT_167247 3,385,938-3,389,288     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686 (See protein sequence)
Recommended Name: Steroid 21-hydroxylase  
Size: 494 amino acids; 55887 Da
Cofactor: Heme group
Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08686

  • 4/11 DME Specific Peptides for CYP21A2 (P08686) (see all 11)
     PFLRFFP  QDVVVLNS  LLHHPEIQ  EVLRLRPV 

    CYP21A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP21A2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000491.4  NP_001122062.3  

    ENSEMBL proteins: 
     ENSP00000408860   ENSP00000417321   ENSP00000419572   ENSP00000418561   ENSP00000415043  
     ENSP00000418104  
    Reactome Protein details: P08686
    Human Recombinant Protein Products for CYP21A2: 
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    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    CYP21A2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    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:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP21A2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    2Mineralocorticoid biosynthesis
    Mineralocorticoid biosynthesis0.71
    Glucocorticoid & Mineralcorticoid Metabolism0.67
    Glucocorticoid biosynthesis0.71
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    4Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    5Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 BioSystems Pathways for CYP21A2
        cytochrome P450
    metapathway biotransformation
    Glucocorticoid & Mineralcorticoid Metabolism

    5/10        Reactome Pathways for CYP21A2 (see all 10)
        Cytochrome P450 - arranged by substrate type
    Mineralocorticoid biosynthesis
    Metabolism
    Steroid hormones
    Endogenous sterols


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


    CYP21A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP21A2

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP21A2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CYP21A2 (CP21A)

    10/18 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--

    10/86 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)

    Search CenterWatch for drugs/clinical trials and news about CYP21A2 / CP21A

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

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

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See CYP21A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP21A2

    SOURCE GeneReport for Unigene cluster: Hs.654479
        SABiosciences Expression via Pathway-Focused PCR Array including CYP21A2: 
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    In Situ
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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CYP21A2 gene from 6/13 species (see all 13)    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 77.69(n)1
    72.73(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 56.17(n)
    48.34(a)
      429828  NM_001099358.1  NP_001092828.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP21A26
    Uncharacterized protein
    42(a)
    1 ↔ 1
    2(198027341-198059708)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC7932491 steroid 21-hydroxylase-like 49.59(n)
    43.4(a)
      793249  XM_001919196.2  XP_001919231.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp18a16
    Cyp304a16
    (see all 4)
    Cyp304a1
    (see all 4)
    22(a)
    20(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    X(18582570-18586778)
    3R(8789519-8791652)
    worm
    (Caenorhabditis elegans)
    Secernentea daf-96
    Protein DAF-9, isoform a
    20(a)
    possible ortholog
    X(6196927-6200818)


    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)
    About This Section
    Paralogs for CYP21A2 gene
    CYP1A22  CYP1B12  CYP1A12  CYP2D7P12  CYP17A12  
    18/25 SIMAP similar genes for CYP21A2 using alignment to 63 protein entries:     CP21A_HUMAN (see all proteins) (see all similar genes):
    P450-CYP21B    CYP21A/CYP21B fusion gene    CYP21B    CYP21    CYP27B1    CYP2D7P1
    CYP1A1    CYP2A7    CYP2E1    CYP2U1    CYP2S1    CYP1B1
    CYP2J2    CYP2B6    CYP2R1    CYP17A1    CYP 2C    CYP2C19

    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686
    Polymorphism: 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


    10/91 SNPs in CYP21A2 are shown (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
    ----------
    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--------
    VAR_0012884
    Adrenal hyperplasia 3 (AH3)4--see VAR_0012882 I N mis40--------
    VAR_0656764
    Adrenal hyperplasia 3 (AH3)4--see VAR_0656762 G D mis40--------
    VAR_0260724
    Adrenal hyperplasia 3 (AH3)4--see VAR_0260722 R C mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/54 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


    Human Gene Mutation Database (HGMD): CYP21A2

    Locus Specific Mutation Databases (LSDB): CYP21A2
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array 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
    OMIM gene information: 613815    OMIM disorders: --

    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

  • 20/93 diseases for CYP21A2 (see all 93):    About MalaCards
    21-hydroxylase deficiency    addison's disease    hyperandrogenism    late-onset congenital adrenal hyperplasia
    nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency    adrenal rest tumor    luteoma    autoimmune polyglandular syndrome type 3
    classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form    classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form    3-beta-hydroxysteroid dehydrogenase deficiency    congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
    autoimmune polyendocrine syndrome    cytochrome p450 oxidoreductase deficiency    testicular leydig cell tumor    hypothalamic hamartomas
    cortisone reductase deficiency    cytochrome p450    antley-bixler syndrome    endocrine diseases

    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

    10/92 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

    PubMed articles for CYP21A2 gene, integrated from 9 sources (see all 1022):
    (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. (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. (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. (2003)
    4. Phenotype-genotype correlations of 13 rare CYP21A2 mu tations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. (PubMed id 20080860)1, 2, 4, 9 Tardy V....Morel Y. (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. (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. (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. (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. (2008)
    9. Mutations in steroid 21-hydroxylase (CYP21). (PubMed id 8081391)1, 2, 9 White P.C.... Speiser P.W. (1994)
    10. High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. (PubMed id 18478071)1, 4, 9 Parajes S....Loidi L. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1589 HGNC: 2600 AceView: CYP21A1P Ensembl:ENSG00000231852 euGenes: HUgn1589
    ECgene: CYP21A2 Kegg: 1589 H-InvDB: CYP21A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/CYP21A2
    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.)
    About This Section
    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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