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)
| |
Aliases
for CYP21A2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cytochrome P450, Family 21, Subfamily A, Polypeptide 21 2 | | Cytochrome P450 XXI2 3 | | CYP211 2 3 | | Cytochrome P450-C21B2 3 | | CYP21B1 2 3 | | 21-OHase2 3 | | CA21H1 2 | | EC 1.14.99.103 8 | | CAH11 2 | | Steroid 21-Hydroxylase2 | | CPS11 2 | | Steroid 21-Monooxygenase2 | | P450c21B1 2 | | Cytochrome P-450c213 | | Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase, Congenital AdrenalHyperplasia), Polypeptide 21 2 | | Cytochrome P450-C213 | | Cytochrome P450 212 3 | | EC 1.14.998 |
Export aliases for CYP21A2 gene to outside databasesPrevious GC identifers: GC06P032035 GC06P031776 GC06P032114 |
Summaries
for CYP21A2 gene(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:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins aremonooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids andother lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Itsactivity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this genecause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involvingthe functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Twotranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686Function: Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis ofmineralocorticoids and glucocorticoids
Gene Wiki entry for CYP21A2 (21-Hydroxylase)
|
Genomic Views
for CYP21A2 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 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
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: 6p21.3CYP21A2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
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:
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3,406 bases |
Orientation:
|
plus strand |
4 alternative locations:
| Chr6+,ALT_REF_LOCI_3 31,981,894-31,996,276 | Chr6+,ALT_REF_LOCI_5 31,997,350-32,000,683 | Chr6+,ALT_REF_LOCI_2 31,954,522-31,997,054 | | Chr6+,ALT_REF_LOCI_7 31,928,258-31,931,592 |
|
Proteins
for CYP21A2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
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; Peripheralmembrane protein
1 PDB 3D structure from  and Proteopedia  for CYP21A2:2GEG (3D)
Secondary accessions: A2BHY6 P04033 Q01204 Q08AG8 Q16749 Q16806 Q5ST44 Q96NU8Alternative splicing: 2 isoforms: P08686-1 P08686-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CYP21A2: NX_P08686
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P08686
4/11 DME Specific Peptides for CYP21A2 (P08686) (see all 11)
CYP21A2 Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005789 | endoplasmic reticulum membrane |
TAS | -- |
CYP21A2 for ontologies About GeneDecksing
CYP21A2 Antibody Products:
Assay Products for CYP21A2: |
Protein
Domains /
Families
for CYP21A2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CYP21A2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P08686ProtoNet protein and cluster: P08686 1 Blocks protein family: IPB002401 E-class P450 group I signature
UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686Domain: The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to themicrosomal membraneSimilarity: Belongs to the cytochrome P450 family |
Function
for CYP21A2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
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,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686Function: Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis ofmineralocorticoids and glucocorticoidsCatalytic activity: A steroid + AH(2) + O(2) = a 21-hydroxysteroid + A + H(2)O Genatlas biochemistry entry for CYP21A2:cytochrome P450,family XXI (steroid 21-hydroxylase A2),microsomal,adrenocortical steroid biosynthesis,included in theYB sequence,in the same orientation
Enzyme Numbers (IUBMB): EC 1.14.99.101 2 EC 1.14.992
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP21A2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP21A2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Synthesis Service for CYP21A2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP21A2 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP21A2 |
Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table
CYP21A2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CYP21A2:
|
Pathways & Interactions
for CYP21A2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Cytochrome P450 - arranged by substrate type | | | 2 | Metabolism | | | 3 | Glucocorticoid biosynthesis | | | 4 | Biological oxidations | | | 5 | Vitamin D (calciferol) metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
3  BioSystems Pathways for CYP21A2
5/10 
Reactome Pathways for CYP21A2 (see all 10)
2 
Kegg Pathways (Kegg details for CYP21A2):
CYP21A2 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP21A2
Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006700 | C21-steroid hormone biosynthetic process |
-- | -- | | GO:0006704 | glucocorticoid biosynthetic process |
TAS | -- | | GO:0006705 | mineralocorticoid biosynthetic process |
TAS | -- | | GO:0006805 | xenobiotic metabolic process |
TAS | -- | | GO:0008202 | steroid metabolic process |
TAS | -- |
CYP21A2 for ontologies About GeneDecksing
|
Drugs & Compounds
for CYP21A2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, 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 Tocris compounds for CYP21A2
10/18 HMDB Compounds for CYP21A2 (see all 18) About this table
10/86 Novoseek 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
|
Transcripts
for CYP21A2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
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_04009015 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
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CYP21A2 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CYP21A2 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): CYP21A2 (NM_000500) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CYP21A2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP21A2 |
Additional cDNA 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 BV206823 CD014134 BX280071 BV195500 BV183547 M17252 AV705196 AA575857 AV701517 AV702085 BV183549 BV183548 BG105044
GeneLoc Exon Structure
|
Expression
for CYP21A2 gene
(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
CGAP TAG: --
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 |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CYP21A2
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CYP21A2 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYP21A2 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CYP21A2 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP21A2 |
Orthologs
for CYP21A2 gene
(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 4/17 species (see all 17) About this table
ENSEMBL Gene Tree for CYP21A2 (if available)
TreeFam Gene Tree for CYP21A2 (if available) |
Paralogs
for CYP21A2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CYP21A2 gene
- CYP1B12 CYP1A22 CYP17A12 CYP1A12 CYP2G1P2 ENSG000001982512
18/26 SIMAP similar genes for CYP21A2 using alignment to 66 protein entries: CP21A_HUMAN (see all proteins)
(see all similar genes):P450-CYP21B CYP21A/CYP21B fusion gene CYP21B CYP21 CYP27B1 CYP2D7P1
CYP2A7 CYP1A1 CYP2E1 CYP2R1 CYP2J2 CYP2B6
CYP2U1 CYP1B1 CYP2S1 CYP17A1 CYP 2C CYP2F1
CYP21A2 for paralogs About GeneDecksing
|
Genomic Variants
for CYP21A2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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, P08686Polymorphism: 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 generatedby recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists ofrecombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CYP21A2 (32006042 - 32009447 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 16 variations for CYP21A2
15/16 CNVs (see all 16): 36512 36511 31278 37564 32785 36509 64474 59325 36510 0599 36507 3602 7565 0600 69404
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: |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CYP21A2 |
|
Disorders
/ Diseases
for CYP21A2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CYP21A2 for disorders About GeneDecksing
OMIM gene information: 613815
OMIM disorders: --
UniProtKB/Swiss-Prot: CP21A_HUMAN, P08686
Defects in CYP21A2 are the cause of adrenal hyperplasia type 3 (AH3) [MIM:201910]. AH3 is a form of congenitaladrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasiais characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth duringchildhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'saltwasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normalaldosterone biosynthesis, 'non-classic form' or late onset (NC or LOAH), and 'cryptic' (asymptomatic)
20/103  diseases for CYP21A2 (see all 103): About MalaCardsadrenal hyperplasia 21-hydroxylase deficiency 3-beta-hydroxysteroid dehydrogenase deficiency 21-hydroxylase-deficient congenital adrenal hyperplasia
11-beta-hydroxylase deficiency antley-bixler syndrome late-onset congenital adrenal hyperplasia aldosteronism
gonadal dysgenesis acanthosis nigricans cortisone reductase deficiency adrenal rest tumor
mixed gonadal dysgenesis autoimmune polyendocrine syndrome type 1 precocious puberty autoimmune polyendocrine syndrome
precocious puberty, male leydig cell tumor luteoma hypothalamic hamartomas
4 diseases from the University of Copenhagen DISEASES database for CYP21A2:Hyperandrogenism Autosomal recessive disease Addison's disease Cushing's syndrome 10/92 Novoseek 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 latentforms,hirsutism hyperandrogenic women,virilization with advanced somatic growth,skeletal age and false precociouspuberty in male (21-OH deficiency),sometimes with uniparental disomy
GeneTests: CYP21A2
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
Genetic Association Database (GAD): CYP21A2
Human Genome Epidemiology (HuGE) Navigator: CYP21A2 (79 documents)
Export disorders for CYP21A2 gene to outside databases
|
Publications
for CYP21A2 gene (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 9 sources (see all 1012):
(articles sorted by number of sources associating them with CYP21A2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PubMed id 15110320)1, 2, 4, 9 Zeng X....Telmer C.A. (2004)
- 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)
- 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)
- 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)
- 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)
- 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)
- Mutations in steroid 21-hydroxylase (CYP21). (PubMed id 8081391)1, 2, 9 White P.C.... Speiser P.W. (1994)
- Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess. (PubMed id 15705377)1, 4, 9 Witchel S.F....Azziz R. (2005)
- Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21). (PubMed id 10198222)1, 2, 9 Lajic S.... Wedell A. (1999)
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External Searches for CYP21A2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing CYP21A2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing CYP21A2 gene
(According to HUGE)
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Specialized Databases showing CYP21A2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| 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 Committee | http://www.cypalleles.ki.se/cyp21.htm | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CYP21A2 | | SHMPD | http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=CYP21A2 |
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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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Products
for CYP21A2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
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