Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYB5R2 (cytochrome b5 reductase 2)

Identity

Other aliasB5R.2
HGNC (Hugo) CYB5R2
LocusID (NCBI) 51700
Atlas_Id 40230
Location 11p15.4  [Link to chromosome band 11p15]
Location_base_pair Starts at 7665095 and ends at 7674243 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
SIX1 (14q23.1) / CYB5R2 (11p15.4)SIX1 14q23.1 / CYB5R2 11p15.4

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)CYB5R2   24376
Cards
Entrez_Gene (NCBI)CYB5R2  51700  cytochrome b5 reductase 2
AliasesB5R.2
GeneCards (Weizmann)CYB5R2
Ensembl hg19 (Hinxton)ENSG00000166394 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000166394 [Gene_View]  chr11:7665095-7674243 [Contig_View]  CYB5R2 [Vega]
ICGC DataPortalENSG00000166394
TCGA cBioPortalCYB5R2
AceView (NCBI)CYB5R2
Genatlas (Paris)CYB5R2
WikiGenes51700
SOURCE (Princeton)CYB5R2
Genetics Home Reference (NIH)CYB5R2
Genomic and cartography
GoldenPath hg38 (UCSC)CYB5R2  -     chr11:7665095-7674243 -  11p15.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYB5R2  -     11p15.4   [Description]    (hg19-Feb_2009)
EnsemblCYB5R2 - 11p15.4 [CytoView hg19]  CYB5R2 - 11p15.4 [CytoView hg38]
Mapping of homologs : NCBICYB5R2 [Mapview hg19]  CYB5R2 [Mapview hg38]
OMIM608342   
Gene and transcription
Genbank (Entrez)AA814725 AB209000 AF169802 AI342011 AK022556
RefSeq transcript (Entrez)NM_001001336 NM_001302826 NM_001302827 NM_016229
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYB5R2
Cluster EST : UnigeneHs.414362 [ NCBI ]
CGAP (NCI)Hs.414362
Alternative Splicing GalleryENSG00000166394
Gene ExpressionCYB5R2 [ NCBI-GEO ]   CYB5R2 [ EBI - ARRAY_EXPRESS ]   CYB5R2 [ SEEK ]   CYB5R2 [ MEM ]
Gene Expression Viewer (FireBrowse)CYB5R2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51700
GTEX Portal (Tissue expression)CYB5R2
Human Protein AtlasENSG00000166394-CYB5R2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6BCY4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6BCY4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6BCY4
Splice isoforms : SwissVarQ6BCY4
PhosPhoSitePlusQ6BCY4
Domaine pattern : Prosite (Expaxy)FAD_FR (PS51384)   
Domains : Interpro (EBI)Fd_Rdtase_FAD-bd    Flavoprot_Pyr_Nucl_cyt_Rdtase    NADH-Cyt_B5_reductase    OxRdtase_FAD-bd_dom    OxRdtase_FAD/NAD-bd    Riboflavin_synthase-like_b-brl   
Domain families : Pfam (Sanger)FAD_binding_6 (PF00970)    NAD_binding_1 (PF00175)   
Domain families : Pfam (NCBI)pfam00970    pfam00175   
Conserved Domain (NCBI)CYB5R2
DMDM Disease mutations51700
Blocks (Seattle)CYB5R2
SuperfamilyQ6BCY4
Human Protein Atlas [tissue]ENSG00000166394-CYB5R2 [tissue]
Peptide AtlasQ6BCY4
HPRD06435
IPIIPI00008234   IPI00332396   IPI00555910   IPI00981132   IPI00982407   IPI00982002   IPI00974522   
Protein Interaction databases
DIP (DOE-UCLA)Q6BCY4
IntAct (EBI)Q6BCY4
FunCoupENSG00000166394
BioGRIDCYB5R2
STRING (EMBL)CYB5R2
ZODIACCYB5R2
Ontologies - Pathways
QuickGOQ6BCY4
Ontology : AmiGOcytochrome-b5 reductase activity, acting on NAD(P)H  cytochrome-b5 reductase activity, acting on NAD(P)H  protein binding  nucleus  mitochondrion  endoplasmic reticulum membrane  bicarbonate transport  membrane  sterol biosynthetic process  oxidation-reduction process  
Ontology : EGO-EBIcytochrome-b5 reductase activity, acting on NAD(P)H  cytochrome-b5 reductase activity, acting on NAD(P)H  protein binding  nucleus  mitochondrion  endoplasmic reticulum membrane  bicarbonate transport  membrane  sterol biosynthetic process  oxidation-reduction process  
Pathways : KEGGAmino sugar and nucleotide sugar metabolism   
NDEx NetworkCYB5R2
Atlas of Cancer Signalling NetworkCYB5R2
Wikipedia pathwaysCYB5R2
Orthology - Evolution
OrthoDB51700
GeneTree (enSembl)ENSG00000166394
Phylogenetic Trees/Animal Genes : TreeFamCYB5R2
HOVERGENQ6BCY4
HOGENOMQ6BCY4
Homologs : HomoloGeneCYB5R2
Homology/Alignments : Family Browser (UCSC)CYB5R2
Gene fusions - Rearrangements
Fusion : MitelmanSIX1/CYB5R2 [14q23.1/11p15.4]  [t(11;14)(p15;q23)]  
Fusion: TCGA_MDACCSIX1 14q23.1 CYB5R2 11p15.4 BRCA
Tumor Fusion PortalCYB5R2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYB5R2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYB5R2
dbVarCYB5R2
ClinVarCYB5R2
1000_GenomesCYB5R2 
Exome Variant ServerCYB5R2
ExAC (Exome Aggregation Consortium)ENSG00000166394
GNOMAD BrowserENSG00000166394
Genetic variants : HAPMAP51700
Genomic Variants (DGV)CYB5R2 [DGVbeta]
DECIPHERCYB5R2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYB5R2 
Mutations
ICGC Data PortalCYB5R2 
TCGA Data PortalCYB5R2 
Broad Tumor PortalCYB5R2
OASIS PortalCYB5R2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYB5R2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYB5R2
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CYB5R2
DgiDB (Drug Gene Interaction Database)CYB5R2
DoCM (Curated mutations)CYB5R2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYB5R2 (select a term)
intoGenCYB5R2
Cancer3DCYB5R2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608342   
Orphanet
DisGeNETCYB5R2
MedgenCYB5R2
Genetic Testing Registry CYB5R2
NextProtQ6BCY4 [Medical]
TSGene51700
GENETestsCYB5R2
Target ValidationCYB5R2
Huge Navigator CYB5R2 [HugePedia]
snp3D : Map Gene to Disease51700
BioCentury BCIQCYB5R2
ClinGenCYB5R2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51700
Chemical/Pharm GKB GenePA142672060
Clinical trialCYB5R2
Miscellaneous
canSAR (ICR)CYB5R2 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYB5R2
EVEXCYB5R2
GoPubMedCYB5R2
iHOPCYB5R2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:09:40 CET 2017

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