Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYB5R3 (cytochrome b5 reductase 3)

Identity

Alias_namesDIA1
diaphorase (NADH) (cytochrome b-5 reductase)
Other aliasB5R
HGNC (Hugo) CYB5R3
LocusID (NCBI) 1727
Atlas_Id 54246
Location 22q13.2  [Link to chromosome band 22q13]
Location_base_pair Starts at 42617840 and ends at 42649399 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)
CYB5R3 (22q13.2) / TXNIP (1q21.1)POLDIP3 (22q13.2) / CYB5R3 (22q13.2)

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)CYB5R3   2873
Cards
Entrez_Gene (NCBI)CYB5R3  1727  cytochrome b5 reductase 3
AliasesB5R; DIA1
GeneCards (Weizmann)CYB5R3
Ensembl hg19 (Hinxton)ENSG00000100243 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100243 [Gene_View]  chr22:42617840-42649399 [Contig_View]  CYB5R3 [Vega]
ICGC DataPortalENSG00000100243
TCGA cBioPortalCYB5R3
AceView (NCBI)CYB5R3
Genatlas (Paris)CYB5R3
WikiGenes1727
SOURCE (Princeton)CYB5R3
Genetics Home Reference (NIH)CYB5R3
Genomic and cartography
GoldenPath hg38 (UCSC)CYB5R3  -     chr22:42617840-42649399 -  22q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYB5R3  -     22q13.2   [Description]    (hg19-Feb_2009)
EnsemblCYB5R3 - 22q13.2 [CytoView hg19]  CYB5R3 - 22q13.2 [CytoView hg38]
Mapping of homologs : NCBICYB5R3 [Mapview hg19]  CYB5R3 [Mapview hg38]
OMIM250800   613213   
Gene and transcription
Genbank (Entrez)AF361370 AJ010116 AJ010117 AJ010118 AJ310899
RefSeq transcript (Entrez)NM_000398 NM_001129819 NM_001171660 NM_001171661 NM_007326
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYB5R3
Cluster EST : UnigeneHs.561064 [ NCBI ]
CGAP (NCI)Hs.561064
Alternative Splicing GalleryENSG00000100243
Gene ExpressionCYB5R3 [ NCBI-GEO ]   CYB5R3 [ EBI - ARRAY_EXPRESS ]   CYB5R3 [ SEEK ]   CYB5R3 [ MEM ]
Gene Expression Viewer (FireBrowse)CYB5R3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1727
GTEX Portal (Tissue expression)CYB5R3
Human Protein AtlasENSG00000100243-CYB5R3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP00387   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP00387  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP00387
Splice isoforms : SwissVarP00387
Catalytic activity : Enzyme1.6.2.2 [ Enzyme-Expasy ]   1.6.2.21.6.2.2 [ IntEnz-EBI ]   1.6.2.2 [ BRENDA ]   1.6.2.2 [ KEGG ]   
PhosPhoSitePlusP00387
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)CYB5R3
DMDM Disease mutations1727
Blocks (Seattle)CYB5R3
PDB (SRS)1M91    1UMK   
PDB (PDBSum)1M91    1UMK   
PDB (IMB)1M91    1UMK   
PDB (RSDB)1M91    1UMK   
Structural Biology KnowledgeBase1M91    1UMK   
SCOP (Structural Classification of Proteins)1M91    1UMK   
CATH (Classification of proteins structures)1M91    1UMK   
SuperfamilyP00387
Human Protein Atlas [tissue]ENSG00000100243-CYB5R3 [tissue]
Peptide AtlasP00387
HPRD08942
IPIIPI00328415   IPI00446235   IPI00930087   IPI00954806   IPI00879692   IPI00879792   
Protein Interaction databases
DIP (DOE-UCLA)P00387
IntAct (EBI)P00387
FunCoupENSG00000100243
BioGRIDCYB5R3
STRING (EMBL)CYB5R3
ZODIACCYB5R3
Ontologies - Pathways
QuickGOP00387
Ontology : AmiGOcytochrome-b5 reductase activity, acting on NAD(P)H  extracellular region  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  hemoglobin complex  cholesterol biosynthetic process  xenobiotic metabolic process  blood circulation  membrane  AMP binding  oxidoreductase activity  L-ascorbic acid metabolic process  azurophil granule lumen  neutrophil degranulation  ADP binding  flavin adenine dinucleotide binding  NAD binding  oxidation-reduction process  extracellular exosome  
Ontology : EGO-EBIcytochrome-b5 reductase activity, acting on NAD(P)H  extracellular region  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial inner membrane  endoplasmic reticulum  endoplasmic reticulum membrane  lipid particle  hemoglobin complex  cholesterol biosynthetic process  xenobiotic metabolic process  blood circulation  membrane  AMP binding  oxidoreductase activity  L-ascorbic acid metabolic process  azurophil granule lumen  neutrophil degranulation  ADP binding  flavin adenine dinucleotide binding  NAD binding  oxidation-reduction process  extracellular exosome  
Pathways : KEGGAmino sugar and nucleotide sugar metabolism   
NDEx NetworkCYB5R3
Atlas of Cancer Signalling NetworkCYB5R3
Wikipedia pathwaysCYB5R3
Orthology - Evolution
OrthoDB1727
GeneTree (enSembl)ENSG00000100243
Phylogenetic Trees/Animal Genes : TreeFamCYB5R3
HOVERGENP00387
HOGENOMP00387
Homologs : HomoloGeneCYB5R3
Homology/Alignments : Family Browser (UCSC)CYB5R3
Gene fusions - Rearrangements
Fusion : MitelmanCYB5R3/TXNIP [22q13.2/1q21.1]  
Tumor Fusion PortalCYB5R3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYB5R3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYB5R3
dbVarCYB5R3
ClinVarCYB5R3
1000_GenomesCYB5R3 
Exome Variant ServerCYB5R3
ExAC (Exome Aggregation Consortium)ENSG00000100243
GNOMAD BrowserENSG00000100243
Genetic variants : HAPMAP1727
Genomic Variants (DGV)CYB5R3 [DGVbeta]
DECIPHERCYB5R3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYB5R3 
Mutations
ICGC Data PortalCYB5R3 
TCGA Data PortalCYB5R3 
Broad Tumor PortalCYB5R3
OASIS PortalCYB5R3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYB5R3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYB5R3
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 CYB5R3
DgiDB (Drug Gene Interaction Database)CYB5R3
DoCM (Curated mutations)CYB5R3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYB5R3 (select a term)
intoGenCYB5R3
Cancer3DCYB5R3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM250800    613213   
Orphanet3290   
DisGeNETCYB5R3
MedgenCYB5R3
Genetic Testing Registry CYB5R3
NextProtP00387 [Medical]
TSGene1727
GENETestsCYB5R3
Target ValidationCYB5R3
Huge Navigator CYB5R3 [HugePedia]
snp3D : Map Gene to Disease1727
BioCentury BCIQCYB5R3
ClinGenCYB5R3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1727
Chemical/Pharm GKB GenePA27331
Clinical trialCYB5R3
Miscellaneous
canSAR (ICR)CYB5R3 (select the gene name)
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYB5R3
EVEXCYB5R3
GoPubMedCYB5R3
iHOPCYB5R3
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 : Tue Nov 21 14:09:41 CET 2017

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