Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2)

Identity

Other namesCA21H
CAH1
CPS1
CYP21
CYP21B
P450c21B
HGNC (Hugo) CYP21A2
LocusID (NCBI) 1589
Location 6p21.33
Location_base_pair Starts at 31973359 and ends at 31976712 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)CYP21A2   2600
Cards
Entrez_Gene (NCBI)CYP21A2  1589  cytochrome P450, family 21, subfamily A, polypeptide 2
GeneCards (Weizmann)CYP21A2
Ensembl (Hinxton)ENSG00000231852 [Gene_View]  chr6:31973359-31976712 [Contig_View]  CYP21A2 [Vega]
ICGC DataPortalENSG00000231852
cBioPortalCYP21A2
AceView (NCBI)CYP21A2
Genatlas (Paris)CYP21A2
WikiGenes1589
SOURCE (Princeton)NM_000500 NM_001128590
Genomic and cartography
GoldenPath (UCSC)CYP21A2  -  6p21.33   chr6:31973359-31976712 +  6p21.33   [Description]    (hg19-Feb_2009)
EnsemblCYP21A2 - 6p21.33 [CytoView]
Mapping of homologs : NCBICYP21A2 [Mapview]
OMIM201910   613815   
Gene and transcription
Genbank (Entrez)AK054616 AK314651 AM086564 AM086565 AM183945
RefSeq transcript (Entrez)NM_000500 NM_001128590
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_007941 NT_007592 NT_113891 NT_167245 NT_167247 NT_167249 NW_001838980 NW_004929326
Consensus coding sequences : CCDS (NCBI)CYP21A2
Cluster EST : UnigeneHs.654479 [ NCBI ]
CGAP (NCI)Hs.654479
Alternative Splicing : Fast-db (Paris)GSHG0025630
Alternative Splicing GalleryENSG00000231852
Gene ExpressionCYP21A2 [ NCBI-GEO ]     CYP21A2 [ SEEK ]   CYP21A2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08686 (Uniprot)
NextProtP08686  [Medical]
With graphics : InterProP08686
Splice isoforms : SwissVarP08686 (Swissvar)
Catalytic activity : Enzyme1.14.99.10 [ Enzyme-Expasy ]   1.14.99.101.14.99.10 [ IntEnz-EBI ]   1.14.99.10 [ BRENDA ]   1.14.99.10 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)CYTOCHROME_P450 (PS00086)   
Domains : Interpro (EBI)Cyt_P450 [organisation]   Cyt_P450_CS [organisation]   Cyt_P450_E_grp-I [organisation]  
Related proteins : CluSTrP08686
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
DMDM Disease mutations1589
Blocks (Seattle)P08686
PDB (SRS)2GEG   
PDB (PDBSum)2GEG   
PDB (IMB)2GEG   
PDB (RSDB)2GEG   
Human Protein AtlasENSG00000231852 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP08686
HPRD01942
IPIIPI00894349   IPI00930361   IPI00980362   IPI00983609   IPI00980521   IPI00893248   IPI00152612   IPI00332799   IPI00383631   IPI00947082   IPI00946722   IPI00946933   
Protein Interaction databases
DIP (DOE-UCLA)P08686
IntAct (EBI)P08686
FunCoupENSG00000231852
BioGRIDCYP21A2
InParanoidP08686
Interologous Interaction database P08686
IntegromeDBCYP21A2
STRING (EMBL)CYP21A2
Ontologies - Pathways
Ontology : AmiGOsteroid 21-monooxygenase activity  steroid binding  iron ion binding  endoplasmic reticulum membrane  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  xenobiotic metabolic process  steroid metabolic process  steroid hydroxylase activity  sterol metabolic process  heme binding  small molecule metabolic process  
Ontology : EGO-EBIsteroid 21-monooxygenase activity  steroid binding  iron ion binding  endoplasmic reticulum membrane  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  xenobiotic metabolic process  steroid metabolic process  steroid hydroxylase activity  sterol metabolic process  heme binding  small molecule metabolic process  
Pathways : KEGGSteroid hormone biosynthesis   
Protein Interaction DatabaseCYP21A2
Wikipedia pathwaysCYP21A2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)CYP21A2
snp3D : Map Gene to Disease1589
SNP (GeneSNP Utah)CYP21A2
SNP : HGBaseCYP21A2
Genetic variants : HAPMAPCYP21A2
Exome VariantCYP21A2
1000_GenomesCYP21A2 
ICGC programENSG00000231852 
Somatic Mutations in Cancer : COSMICCYP21A2 
CONAN: Copy Number AnalysisCYP21A2 
Mutations and Diseases : HGMDCYP21A2
Genomic VariantsCYP21A2  CYP21A2 [DGVbeta]
dbVarCYP21A2
ClinVarCYP21A2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM201910    613815   
MedgenCYP21A2
GENETestsCYP21A2
Disease Genetic AssociationCYP21A2
Huge Navigator CYP21A2 [HugePedia]  CYP21A2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCYP21A2
Homology/Alignments : Family Browser (UCSC)CYP21A2
Phylogenetic Trees/Animal Genes : TreeFamCYP21A2
Chemical/Protein Interactions : CTD1589
Chemical/Pharm GKB GenePA27096
Clinical trialCYP21A2
Cancer Resource (Charite)ENSG00000231852
Other databases
Probes
Litterature
PubMed268 Pubmed reference(s) in Entrez
CoreMineCYP21A2
iHOPCYP21A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:52:09 CEST 2014

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