Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYP2R1 (cytochrome P450 family 2 subfamily R member 1)

Identity

Alias_namescytochrome P450
Other alias-
HGNC (Hugo) CYP2R1
LocusID (NCBI) 120227
Atlas_Id 53609
Location 11p15.2  [Link to chromosome band 11p15]
Location_base_pair Starts at 14878010 and ends at 14892205 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANO1 (11q13.3) / CYP2R1 (11p15.2)ANO1 11q13.3 / CYP2R1 11p15.2

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)CYP2R1   20580
Cards
Entrez_Gene (NCBI)CYP2R1  120227  cytochrome P450 family 2 subfamily R member 1
Aliases
GeneCards (Weizmann)CYP2R1
Ensembl hg19 (Hinxton)ENSG00000186104 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186104 [Gene_View]  chr11:14878010-14892205 [Contig_View]  CYP2R1 [Vega]
ICGC DataPortalENSG00000186104
TCGA cBioPortalCYP2R1
AceView (NCBI)CYP2R1
Genatlas (Paris)CYP2R1
WikiGenes120227
SOURCE (Princeton)CYP2R1
Genetics Home Reference (NIH)CYP2R1
Genomic and cartography
GoldenPath hg38 (UCSC)CYP2R1  -     chr11:14878010-14892205 -  11p15.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYP2R1  -     11p15.2   [Description]    (hg19-Feb_2009)
EnsemblCYP2R1 - 11p15.2 [CytoView hg19]  CYP2R1 - 11p15.2 [CytoView hg38]
Mapping of homologs : NCBICYP2R1 [Mapview hg19]  CYP2R1 [Mapview hg38]
OMIM600081   608713   
Gene and transcription
Genbank (Entrez)AK092584 AK312019 AW138676 AY323817 BC052580
RefSeq transcript (Entrez)NM_024514
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYP2R1
Cluster EST : UnigeneHs.371427 [ NCBI ]
CGAP (NCI)Hs.371427
Alternative Splicing GalleryENSG00000186104
Gene ExpressionCYP2R1 [ NCBI-GEO ]   CYP2R1 [ EBI - ARRAY_EXPRESS ]   CYP2R1 [ SEEK ]   CYP2R1 [ MEM ]
Gene Expression Viewer (FireBrowse)CYP2R1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)120227
GTEX Portal (Tissue expression)CYP2R1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6VVX0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6VVX0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6VVX0
Splice isoforms : SwissVarQ6VVX0
PhosPhoSitePlusQ6VVX0
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   
Conserved Domain (NCBI)CYP2R1
DMDM Disease mutations120227
Blocks (Seattle)CYP2R1
PDB (SRS)3C6G    3CZH    3DL9   
PDB (PDBSum)3C6G    3CZH    3DL9   
PDB (IMB)3C6G    3CZH    3DL9   
PDB (RSDB)3C6G    3CZH    3DL9   
Structural Biology KnowledgeBase3C6G    3CZH    3DL9   
SCOP (Structural Classification of Proteins)3C6G    3CZH    3DL9   
CATH (Classification of proteins structures)3C6G    3CZH    3DL9   
SuperfamilyQ6VVX0
Human Protein AtlasENSG00000186104
Peptide AtlasQ6VVX0
HPRD10569
IPIIPI00409700   IPI00984511   IPI00983845   
Protein Interaction databases
DIP (DOE-UCLA)Q6VVX0
IntAct (EBI)Q6VVX0
FunCoupENSG00000186104
BioGRIDCYP2R1
STRING (EMBL)CYP2R1
ZODIACCYP2R1
Ontologies - Pathways
QuickGOQ6VVX0
Ontology : AmiGOmonooxygenase activity  iron ion binding  endoplasmic reticulum membrane  vitamin metabolic process  response to cesium ion  response to ionizing radiation  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen  heme binding  vitamin D3 25-hydroxylase activity  organelle membrane  calcitriol biosynthetic process from calciol  vitamin D metabolic process  oxidation-reduction process  
Ontology : EGO-EBImonooxygenase activity  iron ion binding  endoplasmic reticulum membrane  vitamin metabolic process  response to cesium ion  response to ionizing radiation  oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen  heme binding  vitamin D3 25-hydroxylase activity  organelle membrane  calcitriol biosynthetic process from calciol  vitamin D metabolic process  oxidation-reduction process  
Pathways : KEGGSteroid biosynthesis   
NDEx NetworkCYP2R1
Atlas of Cancer Signalling NetworkCYP2R1
Wikipedia pathwaysCYP2R1
Orthology - Evolution
OrthoDB120227
GeneTree (enSembl)ENSG00000186104
Phylogenetic Trees/Animal Genes : TreeFamCYP2R1
HOVERGENQ6VVX0
HOGENOMQ6VVX0
Homologs : HomoloGeneCYP2R1
Homology/Alignments : Family Browser (UCSC)CYP2R1
Gene fusions - Rearrangements
Fusion : MitelmanANO1/CYP2R1 [11q13.3/11p15.2]  [t(11;11)(p15;q13)]  
Fusion: TCGAANO1 11q13.3 CYP2R1 11p15.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYP2R1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYP2R1
dbVarCYP2R1
ClinVarCYP2R1
1000_GenomesCYP2R1 
Exome Variant ServerCYP2R1
ExAC (Exome Aggregation Consortium)CYP2R1 (select the gene name)
Genetic variants : HAPMAP120227
Genomic Variants (DGV)CYP2R1 [DGVbeta]
DECIPHERCYP2R1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYP2R1 
Mutations
ICGC Data PortalCYP2R1 
TCGA Data PortalCYP2R1 
Broad Tumor PortalCYP2R1
OASIS PortalCYP2R1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYP2R1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYP2R1
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 CYP2R1
DgiDB (Drug Gene Interaction Database)CYP2R1
DoCM (Curated mutations)CYP2R1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYP2R1 (select a term)
intoGenCYP2R1
Cancer3DCYP2R1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600081    608713   
Orphanet20702   
MedgenCYP2R1
Genetic Testing Registry CYP2R1
NextProtQ6VVX0 [Medical]
TSGene120227
GENETestsCYP2R1
Target ValidationCYP2R1
Huge Navigator CYP2R1 [HugePedia]
snp3D : Map Gene to Disease120227
BioCentury BCIQCYP2R1
ClinGenCYP2R1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD120227
Chemical/Pharm GKB GenePA134986407
Clinical trialCYP2R1
Miscellaneous
canSAR (ICR)CYP2R1 (select the gene name)
Probes
Litterature
PubMed61 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYP2R1
EVEXCYP2R1
GoPubMedCYP2R1
iHOPCYP2R1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:30:25 CEST 2017

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