Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CYB5R4 (cytochrome b5 reductase 4)

Identity

Alias_namesNCB5OR
NADPH cytochrome B5 oxidoreductase
Alias_symbol (synonym)b5+b5R
dJ676J13.1
Other aliascb5/cb5R
HGNC (Hugo) CYB5R4
LocusID (NCBI) 51167
Atlas_Id 62237
Location 6q14.2  [Link to chromosome band 6q14]
Location_base_pair Starts at 83859651 and ends at 83960427 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CYB5R4 (6q14.2) / CNTN6 (3p26.3)GLTSCR1L (6p21.1) / CYB5R4 (6q14.2)MDN1 (6q15) / CYB5R4 (6q14.2)
POLE2 (14q21.3) / CYB5R4 (6q14.2)KIAA0240 CYB5R4MDN1 CYB5R4

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)CYB5R4   20147
Cards
Entrez_Gene (NCBI)CYB5R4  51167  cytochrome b5 reductase 4
AliasesNCB5OR; cb5/cb5R; dJ676J13.1
GeneCards (Weizmann)CYB5R4
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr6:83859651-83960427 [Contig_View]  CYB5R4 [Vega]
TCGA cBioPortalCYB5R4
AceView (NCBI)CYB5R4
Genatlas (Paris)CYB5R4
WikiGenes51167
SOURCE (Princeton)CYB5R4
Genetics Home Reference (NIH)CYB5R4
Genomic and cartography
GoldenPath hg38 (UCSC)CYB5R4  -     chr6:83859651-83960427 +  6q14.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYB5R4  -     6q14.2   [Description]    (hg19-Feb_2009)
EnsemblCYB5R4 - 6q14.2 [CytoView hg19]  CYB5R4 - 6q14.2 [CytoView hg38]
Mapping of homologs : NCBICYB5R4 [Mapview hg19]  CYB5R4 [Mapview hg38]
OMIM608343   
Gene and transcription
Genbank (Entrez)AF169803 AK313146 AL832113 AM393033 BC025380
RefSeq transcript (Entrez)NM_016230
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYB5R4
Cluster EST : UnigeneHs.5741 [ NCBI ]
CGAP (NCI)Hs.5741
Gene ExpressionCYB5R4 [ NCBI-GEO ]   CYB5R4 [ EBI - ARRAY_EXPRESS ]   CYB5R4 [ SEEK ]   CYB5R4 [ MEM ]
Gene Expression Viewer (FireBrowse)CYB5R4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51167
GTEX Portal (Tissue expression)CYB5R4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7L1T6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7L1T6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7L1T6
Splice isoforms : SwissVarQ7L1T6
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 ]   
PhosPhoSitePlusQ7L1T6
Domaine pattern : Prosite (Expaxy)CS (PS51203)    CYTOCHROME_B5_1 (PS00191)    CYTOCHROME_B5_2 (PS50255)    FAD_FR (PS51384)   
Domains : Interpro (EBI)CS_dom    CYB5R4    Cyt_B5-like_heme/steroid-bd    Cyt_B5_heme-BS    Fd_Rdtase_FAD-bd    HSP20-like_chaperone    NADH-Cyt_B5_reductase    OxRdtase_FAD-bd_dom    OxRdtase_FAD/NAD-bd    Riboflavin_synthase-like_b-brl   
Domain families : Pfam (Sanger)CS (PF04969)    Cyt-b5 (PF00173)    FAD_binding_6 (PF00970)    NAD_binding_1 (PF00175)   
Domain families : Pfam (NCBI)pfam04969    pfam00173    pfam00970    pfam00175   
Domain families : Smart (EMBL)Cyt-b5 (SM01117)  
Conserved Domain (NCBI)CYB5R4
DMDM Disease mutations51167
Blocks (Seattle)CYB5R4
PDB (SRS)3LF5   
PDB (PDBSum)3LF5   
PDB (IMB)3LF5   
PDB (RSDB)3LF5   
Structural Biology KnowledgeBase3LF5   
SCOP (Structural Classification of Proteins)3LF5   
CATH (Classification of proteins structures)3LF5   
SuperfamilyQ7L1T6
Peptide AtlasQ7L1T6
HPRD12218
IPIIPI00008236   IPI00646671   
Protein Interaction databases
DIP (DOE-UCLA)Q7L1T6
IntAct (EBI)Q7L1T6
BioGRIDCYB5R4
STRING (EMBL)CYB5R4
ZODIACCYB5R4
Ontologies - Pathways
QuickGOQ7L1T6
Ontology : AmiGOdetection of oxygen  cytochrome-b5 reductase activity, acting on NAD(P)H  cytochrome-b5 reductase activity, acting on NAD(P)H  endoplasmic reticulum  endoplasmic reticulum membrane  generation of precursor metabolites and energy  superoxide metabolic process  bicarbonate transport  NAD(P)H oxidase activity  NAD(P)H oxidase activity  oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor  heme binding  insulin secretion  glucose homeostasis  response to antibiotic  metal ion binding  cell development  perinuclear region of cytoplasm  oxidation-reduction process  
Ontology : EGO-EBIdetection of oxygen  cytochrome-b5 reductase activity, acting on NAD(P)H  cytochrome-b5 reductase activity, acting on NAD(P)H  endoplasmic reticulum  endoplasmic reticulum membrane  generation of precursor metabolites and energy  superoxide metabolic process  bicarbonate transport  NAD(P)H oxidase activity  NAD(P)H oxidase activity  oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor  heme binding  insulin secretion  glucose homeostasis  response to antibiotic  metal ion binding  cell development  perinuclear region of cytoplasm  oxidation-reduction process  
NDEx NetworkCYB5R4
Atlas of Cancer Signalling NetworkCYB5R4
Wikipedia pathwaysCYB5R4
Orthology - Evolution
OrthoDB51167
Phylogenetic Trees/Animal Genes : TreeFamCYB5R4
HOVERGENQ7L1T6
HOGENOMQ7L1T6
Homologs : HomoloGeneCYB5R4
Homology/Alignments : Family Browser (UCSC)CYB5R4
Gene fusions - Rearrangements
Fusion: TCGAKIAA0240 CYB5R4
Fusion: TCGAMDN1 CYB5R4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYB5R4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYB5R4
dbVarCYB5R4
ClinVarCYB5R4
1000_GenomesCYB5R4 
Exome Variant ServerCYB5R4
ExAC (Exome Aggregation Consortium)CYB5R4 (select the gene name)
Genetic variants : HAPMAP51167
Genomic Variants (DGV)CYB5R4 [DGVbeta]
DECIPHERCYB5R4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYB5R4 
Mutations
ICGC Data PortalCYB5R4 
TCGA Data PortalCYB5R4 
Broad Tumor PortalCYB5R4
OASIS PortalCYB5R4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYB5R4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYB5R4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CYB5R4
DgiDB (Drug Gene Interaction Database)CYB5R4
DoCM (Curated mutations)CYB5R4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYB5R4 (select a term)
intoGenCYB5R4
Cancer3DCYB5R4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608343   
Orphanet
MedgenCYB5R4
Genetic Testing Registry CYB5R4
NextProtQ7L1T6 [Medical]
TSGene51167
GENETestsCYB5R4
Target ValidationCYB5R4
Huge Navigator CYB5R4 [HugePedia]
snp3D : Map Gene to Disease51167
BioCentury BCIQCYB5R4
ClinGenCYB5R4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51167
Chemical/Pharm GKB GenePA134904907
Clinical trialCYB5R4
Miscellaneous
canSAR (ICR)CYB5R4 (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYB5R4
EVEXCYB5R4
GoPubMedCYB5R4
iHOPCYB5R4
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 : Wed Jun 7 15:45:02 CEST 2017

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