Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYP21A2 (cytochrome P450 family 21 subfamily A member 2)

Identity

Other namesCA21H
CAH1
CPS1
CYP21
CYP21B
P450c21B
HGNC (Hugo) CYP21A2
LocusID (NCBI) 1589
Atlas_Id 40238
Location 6p21.33  [Link to chromosome band 6p21]
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 member 2
AliasesCA21H; CAH1; CPS1; CYP21; 
CYP21B; P450c21B
GeneCards (Weizmann)CYP21A2
Ensembl hg19 (Hinxton)ENSG00000231852 [Gene_View]  chr6:31973359-31976712 [Contig_View]  CYP21A2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000231852 [Gene_View]  chr6:31973359-31976712 [Contig_View]  CYP21A2 [Vega]
ICGC DataPortalENSG00000231852
TCGA cBioPortalCYP21A2
AceView (NCBI)CYP21A2
Genatlas (Paris)CYP21A2
WikiGenes1589
SOURCE (Princeton)CYP21A2
Genomic and cartography
GoldenPath hg19 (UCSC)CYP21A2  -     chr6:31973359-31976712 +  6p21.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CYP21A2  -     6p21.33   [Description]    (hg38-Dec_2013)
EnsemblCYP21A2 - 6p21.33 [CytoView hg19]  CYP21A2 - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBICYP21A2 [Mapview hg19]  CYP21A2 [Mapview hg38]
OMIM201910   613815   
Gene and transcription
Genbank (Entrez)AK054616 AK314651 AM086564 AM086565 AM183945
RefSeq transcript (Entrez)NM_000500 NM_001128590
RefSeq genomic (Entrez)NC_000006 NC_018917 NG_007941 NT_007592 NT_113891 NT_167245 NT_167247 NT_167249 NW_004929326
Consensus coding sequences : CCDS (NCBI)CYP21A2
Cluster EST : UnigeneHs.654479 [ NCBI ]
CGAP (NCI)Hs.654479
Alternative Splicing GalleryENSG00000231852
Gene ExpressionCYP21A2 [ NCBI-GEO ]   CYP21A2 [ EBI - ARRAY_EXPRESS ]   CYP21A2 [ SEEK ]   CYP21A2 [ MEM ]
Gene Expression Viewer (FireBrowse)CYP21A2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1589
GTEX Portal (Tissue expression)CYP21A2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08686 (Uniprot)
NextProtP08686  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP08686
Splice isoforms : SwissVarP08686 (Swissvar)
PhosPhoSitePlusP08686
Domaine pattern : Prosite (Expaxy)CYTOCHROME_P450 (PS00086)   
Domains : Interpro (EBI)Cyt_P450    Cyt_P450_CS    Cyt_P450_E_grp-I   
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
DMDM Disease mutations1589
Blocks (Seattle)CYP21A2
PDB (SRS)2GEG    4Y8W   
PDB (PDBSum)2GEG    4Y8W   
PDB (IMB)2GEG    4Y8W   
PDB (RSDB)2GEG    4Y8W   
Structural Biology KnowledgeBase2GEG    4Y8W   
SCOP (Structural Classification of Proteins)2GEG    4Y8W   
CATH (Classification of proteins structures)2GEG    4Y8W   
SuperfamilyP08686
Human Protein AtlasENSG00000231852
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
STRING (EMBL)CYP21A2
ZODIACCYP21A2
Ontologies - Pathways
QuickGOP08686
Ontology : AmiGOsteroid 21-monooxygenase activity  steroid 21-monooxygenase activity  steroid binding  iron ion binding  endoplasmic reticulum membrane  steroid biosynthetic process  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  steroid metabolic process  steroid hydroxylase activity  sterol metabolic process  heme binding  oxidation-reduction process  
Ontology : EGO-EBIsteroid 21-monooxygenase activity  steroid 21-monooxygenase activity  steroid binding  iron ion binding  endoplasmic reticulum membrane  steroid biosynthetic process  glucocorticoid biosynthetic process  mineralocorticoid biosynthetic process  steroid metabolic process  steroid hydroxylase activity  sterol metabolic process  heme binding  oxidation-reduction process  
Pathways : KEGGSteroid hormone biosynthesis   
NDEx NetworkCYP21A2
Atlas of Cancer Signalling NetworkCYP21A2
Wikipedia pathwaysCYP21A2
Orthology - Evolution
OrthoDB1589
GeneTree (enSembl)ENSG00000231852
Phylogenetic Trees/Animal Genes : TreeFamCYP21A2
Homologs : HomoloGeneCYP21A2
Homology/Alignments : Family Browser (UCSC)CYP21A2
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCYP21A2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYP21A2
dbVarCYP21A2
ClinVarCYP21A2
1000_GenomesCYP21A2 
Exome Variant ServerCYP21A2
ExAC (Exome Aggregation Consortium)CYP21A2 (select the gene name)
Genetic variants : HAPMAP1589
Genomic Variants (DGV)CYP21A2 [DGVbeta]
Mutations
ICGC Data PortalCYP21A2 
TCGA Data PortalCYP21A2 
Broad Tumor PortalCYP21A2
OASIS PortalCYP21A2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYP21A2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CYP21A2
DgiDB (Drug Gene Interaction Database)CYP21A2
DoCM (Curated mutations)CYP21A2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYP21A2 (select a term)
intoGenCYP21A2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:31973359-31976712  ENSG00000231852
CONAN: Copy Number AnalysisCYP21A2 
Mutations and Diseases : HGMDCYP21A2
OMIM201910    613815   
MedgenCYP21A2
Genetic Testing Registry CYP21A2
NextProtP08686 [Medical]
TSGene1589
GENETestsCYP21A2
Huge Navigator CYP21A2 [HugePedia]
snp3D : Map Gene to Disease1589
BioCentury BCIQCYP21A2
ClinGenCYP21A2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1589
Chemical/Pharm GKB GenePA27096
Clinical trialCYP21A2
Miscellaneous
canSAR (ICR)CYP21A2 (select the gene name)
Probes
Litterature
PubMed288 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYP21A2
EVEXCYP21A2
GoPubMedCYP21A2
iHOPCYP21A2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 18:45:00 CEST 2016

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