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CYB5R4 Gene

protein-coding   GIFtS: 60
GCID: GC06P084569

Cytochrome B5 Reductase 4

(Previous name: NADPH cytochrome B5 oxidoreductase)
(Previous symbol: NCB5OR)
  See CYB5R4-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome B5 Reductase 41 2     EC 1.6.2.23 8
NCB5OR1 2 3 5     Cytochrome B-Type NAD(P)H Oxidoreductase2
NADPH Cytochrome B5 Oxidoreductase1 2     dJ676J13.12
Flavohemoprotein B5/B5R2 3     Flavohemoprotein B5+B5R2
cb5/cb5R2 3     b5+b5R3
N-Terminal Cytochrome B5 And Cytochrome B5 Oxidoreductase
Domain-Containing Protein2 3
     

External Ids:    HGNC: 201471   Entrez Gene: 511672   Ensembl: ENSG000000656157   OMIM: 6083435   UniProtKB: Q7L1T63   

Export aliases for CYB5R4 gene to outside databases

Previous GC identifers: GC06P084627 GC06P081798


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYB5R4 Gene:
NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and
CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 (PubMed 10611283)).(supplied by OMIM, Jan 2010)

GeneCards Summary for CYB5R4 Gene:
CYB5R4 (cytochrome b5 reductase 4) is a protein-coding gene. Diseases associated with CYB5R4 include methemoglobinemia. GO annotations related to this gene include NAD(P)H oxidase activity and heme binding. An important paralog of this gene is ENSG00000256407.

UniProtKB/Swiss-Prot: NB5R4_HUMAN, Q7L1T6
Function: NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical
role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess
buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c,
feericyanide and methemoglobin

Gene Wiki entry for CYB5R4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_025741.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYB5R4 gene promoter:
         SREBP-1c   POU3F2 (N-Oct-5a)   POU6F1 (c2)   Cdc5   SREBP-1b   S8   Ik-2   SREBP-1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCYB5R4 promoter sequence
   Search Chromatin IP Primers for CYB5R4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYB5R4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6pter-q22.33   Ensembl cytogenetic band:  6q14.2   HGNC cytogenetic band: 6q14.2

CYB5R4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYB5R4 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P084569:  view genomic region     (about GC identifiers)

Start:
84,569,362 bp from pter      End:
84,677,143 bp from pter
Size:
107,782 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NB5R4_HUMAN, Q7L1T6 (See protein sequence)
Recommended Name: Cytochrome b5 reductase 4  
Size: 521 amino acids; 59474 Da
Cofactor: FAD
Sequence caution: Sequence=AAF04812.1; Type=Erroneous initiation; Sequence=CAI19905.1; Type=Erroneous gene model
prediction; Sequence=CAI22326.1; Type=Erroneous gene model prediction;
1 PDB 3D structure from and Proteopedia for CYB5R4:
3LF5 (3D)    
Secondary accessions: B1AEM2 Q5TGI9 Q9NUE4 Q9UHI9

Explore the universe of human proteins at neXtProt for CYB5R4: NX_Q7L1T6

Explore proteomics data for CYB5R4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for CYB5R4 (Q7L1T6) (see all 7)
     DCWICIRG  RLTKSGKD  SKEDVTHDT  DWIRLTKSG 


    See CYB5R4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_057314.2  
    ENSEMBL proteins: 
     ENSP00000358695   ENSP00000358693  

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    antibodies-online peptides for CYB5R4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 9):
     IPR018506 Cyt_B5_heme-BS
     IPR017927 Fd_Rdtase_FAD-bd
     IPR008333 OxRdtase_FAD-bd_dom
     IPR001433 OxRdtase_FAD/NAD-bd
     IPR001199 Cyt_B5-like_heme/steroid-bd

    Graphical View of Domain Structure for InterPro Entry Q7L1T6

    ProtoNet protein and cluster: Q7L1T6

    5 Blocks protein domains:
    IPB001199 Cytochrome b5
    IPB001433 Oxidoreductase FAD/NAD(P)-binding
    IPB001834 Cytochrome B5 reductase signature
    IPB007052 CS domain
    IPB008333 Oxidoreductase FAD-binding region


    UniProtKB/Swiss-Prot: NB5R4_HUMAN, Q7L1T6
    Similarity: Belongs to the flavoprotein pyridine nucleotide cytochrome reductase family
    Similarity: Contains 1 CS domain
    Similarity: Contains 1 cytochrome b5 heme-binding domain
    Similarity: Contains 1 FAD-binding FR-type domain


    Find genes that share domains with CYB5R4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NB5R4_HUMAN, Q7L1T6
    Function: NADH-cytochrome b5 reductase involved in endoplasmic reticulum stress response pathway. Plays a critical
    role in protecting pancreatic beta-cells against oxidant stress, possibly by protecting the cell from excess
    buildup of reactive oxygen species (ROS). Reduces a variety of substrates in vitro, such as cytochrome c,
    feericyanide and methemoglobin
    Catalytic activity: NADH + 2 ferricytochrome b5 = NAD(+) + H(+) + 2 ferrocytochrome b5
    Biophysicochemical properties: Kinetic parameters: KM=25 mM for O(2); Redox potential: E(0) is -108 mV;

         Enzyme Number (IUBMB): EC 1.6.2.21 2

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003958NADPH-hemoprotein reductase activity IEA--
    GO:0004128cytochrome-b5 reductase activity, acting on NAD(P)H IDA10611283
    GO:0005515protein binding ----
    GO:0016174NOT NAD(P)H oxidase activity IDA15131110
    GO:0016491oxidoreductase activity ----
         
    Find genes that share ontologies with CYB5R4           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CYB5R4:
     Decreased influenza A virus in 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cyb5r4):
     adipose tissue  behavior/neurological  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 

    Find genes that share phenotypes with CYB5R4           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Cyb5r4tm1Hfb for CYB5R4

       genOway: Develop your customized and physiologically relevant rodent model for CYB5R4

    miRNA
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    miRTarBase miRNAs that target CYB5R4:
    hsa-mir-373-3p (MIRT004438), hsa-mir-26b-5p (MIRT029327), hsa-mir-148b-3p (MIRT019387)

    Block miRNA regulation of human, mouse, rat CYB5R4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYB5R4 (see all 19):
    hsa-miR-148b hsa-miR-137 hsa-miR-301a hsa-miR-641 hsa-miR-130b hsa-miR-148a hsa-miR-577 hsa-miR-301b
    SwitchGear 3'UTR luciferase reporter plasmidCYB5R4 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NB5R4_HUMAN, Q7L1T6: Endoplasmic reticulum. Note=Soluble protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    mitochondrion2
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA15131110
    GO:0048471perinuclear region of cytoplasm IDA10611283

    Find genes that share ontologies with CYB5R4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYB5R4 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    cytochrome P4500.74

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for CYB5R4
        Antioxidant Action of Vitamin-C

    1 BioSystems Pathway for CYB5R4
        cytochrome P450


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYB5R4
    Interactions:

        Search GeneGlobe Interaction Network for CYB5R4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CYB5R4 (Q7L1T63 ENSP000003586954) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CIDEAO605433I2D: score=1 
    CYC1ENSP000003171594STRING: ENSP00000317159
    PAM16ENSP000003156934STRING: ENSP00000315693
    TIMM44ENSP000002705384STRING: ENSP00000270538
    PAFAH1B1ENSP000003803784STRING: ENSP00000380378
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003032detection of oxygen NAS10611283
    GO:0006091generation of precursor metabolites and energy IDA10611283
    GO:0006739NADP metabolic process IEA--
    GO:0006801superoxide metabolic process IDA10611283
    GO:0030073insulin secretion ISS--

    Find genes that share ontologies with CYB5R4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYB5R4 (NB5R4)

    4 HMDB Compounds for CYB5R4    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--

    1 PharmGKB related drug/compound annotation for CYB5R4 gene    About this table
    Drug/compound PharmGKB Annotation
    metoclopramide



    Find genes that share compounds with CYB5R4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYB5R4 gene: 
    NM_016230.3  

    Unigene Cluster for CYB5R4:

    Cytochrome b5 reductase 4
    Hs.5741  [show with all ESTs]
    Unigene Representative Sequence: NM_016230
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369681(uc003pkf.3) ENST00000369679 ENST00000479164
    miRNA
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    hsa-miR-148b hsa-miR-137 hsa-miR-301a hsa-miR-641 hsa-miR-130b hsa-miR-148a hsa-miR-577 hsa-miR-301b
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    Additional mRNA sequence: 

    AF169803.1 AK313146.1 AL832113.1 BC025380.1 BC029339.1 

    5 DOTS entries:

    DT.114378  DT.92423325  DT.95245933  DT.121354473  DT.91873348 

    Selected AceView cDNA sequences (see all 91):

    BQ434535 BM904149 BC029339 AI911592 R36810 CB052177 CB123204 BI059778 
    AA400638 AI286063 R70025 AA287189 CB131642 CA489055 AL514674 AI027183 
    BC025380 AA808031 AA383050 BQ212318 BX404528 BQ045415 BF515025 AA402753 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYB5R4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTCTATGCT
    CYB5R4 Expression
    About this image


    CYB5R4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    CYB5R4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYB5R4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5741

    UniProtKB/Swiss-Prot: NB5R4_HUMAN, Q7L1T6
    Tissue specificity: Widely expressed

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYB5R4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CYB5R4 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyb5r41 , 5 cytochrome b5 reductase 41, 5 84.42(n)1
    81.15(a)1
      9 (46.69 cM)5
    2666901  NM_024195.21  NP_077157.21 
     870220145 
    chicken
    (Gallus gallus)
    Aves CYB5R41 cytochrome b5 reductase 4 70.46(n)
    66.86(a)
      421837  XM_001233870.3  XP_001233871.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYB5R46
    cytochrome b5 reductase 4
    65(a)
    1 ↔ 1
    1(197284072-197315449)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cyb5r41 cytochrome b5 reductase 4 65.22(n)
    56.31(a)
      549510  NM_001016756.2  NP_001016756.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cyb5r41 cytochrome b5 reductase 4 56.9(n)
    52.79(a)
      553685  NM_001020660.1  NP_001018496.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG112571 CG11257 44.98(n)
    34.53(a)
      37227  NM_137575.2  NP_611419.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y52B11A.31 CELE_Y52B11A.3 46.21(n)
    35.24(a)
      173002  NM_001026613.4  NP_001021784.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes IRC21(YMR073C)4 Putative protein of unknown function; may be involved more   --   13(412873-412268) 855095  NP_013789.1 


    ENSEMBL Gene Tree for CYB5R4 (if available)
    TreeFam Gene Tree for CYB5R4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYB5R4 gene
    ENSG000002564072  CYB5R32  CYB5R22  CYB5RL2  CYB5R12  
    3 SIMAP similar genes for CYB5R4 using alignment to 1 protein entry:     NB5R4_HUMAN:
    CYB5A    DKFZp686M0619    CYB5R3

    Find genes that share paralogs with CYB5R4           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    NB5R4_HUMAN, Q7L1T6: Variants Arg-187 and Arg-223 do not influence the pathogenesis of non-autoimmune diabetes


    Selected SNPs for CYB5R4 (see all 1869)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362414
    A breast cancer sample4--see VAR_0362412 L M mis40--------
    VAR_0362404
    A breast cancer sample4--see VAR_0362402 D Y mis40--------
    rs1148273351,2
    F--84567773(+) TAAAAC/TAAAAC 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1475551551,2
    C--84567818(+) AAGTGA/G/TAGTCT 1 -- us2k10--------
    rs1833138731,2
    C--84567883(+) TTTGGA/GAAGCA 1 -- us2k10--------
    rs1407237841,2
    --84568096(+) TCATGA/CGGTTC 1 -- us2k10--------
    rs1869992331,2
    --84568167(+) AGGTGA/GATGTC 1 -- us2k10--------
    rs94497061,2
    C,F,A,H--84568199(+) ATGCTT/CGTATT 1 -- us2k125Minor allele frequency- C:0.28NA NS EA WA CSA 2576
    rs1899431581,2
    --84568316(+) CATGAA/CAATAT 1 -- us2k10--------
    rs617614731,2
    C--84568380(+) AACTAT/CGTTTC 1 -- us2k13Minor allele frequency- C:0.02NS NA 212

    HapMap Linkage Disequilibrium report for CYB5R4 (84569362 - 84677143 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for CYB5R4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2669183CNV Deletion23128226
    nsv886330CNV Gain21882294
    nsv830719CNV Gain17160897
    nsv886331CNV Gain21882294
    nsv830718CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): CYB5R4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYB5R4
    DNA2.0 Custom Variant and Variant Library Synthesis for CYB5R4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608343    OMIM disorders: --

    1 disease for CYB5R4:    
    About MalaCards
    methemoglobinemia

    1 disease from the University of Copenhagen DISEASES database for CYB5R4:
    Methemoglobinemia

    Find genes that share disorders with CYB5R4           About GenesLikeMe

    Genetic Association Database (GAD): CYB5R4
    Human Genome Epidemiology (HuGE) Navigator: CYB5R4 (5 documents)

    Export disorders for CYB5R4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYB5R4 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with CYB5R4)
        Utopia: connect your pdf to the dynamic
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    1. Identification of a cytochrome b-type NAD(P)H oxidoreductase ubiquitously expressed in human cells. (PubMed id 10611283)1, 2, 3, 9 Zhu H.... Bunn H.F. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. Variation in NCB5OR: studies of relationships to type 2 diabetes, maturity-onset diabetes of the young, and gestational diabetes mellitus. (PubMed id 15504981)1, 2, 4 Andersen G.... Pedersen O. (Diabetes 2004)
    3. NCB5OR is a novel soluble NAD(P)H reductase localized in the endoplasmic reticulum. (PubMed id 15131110)1, 2, 9 Zhu H.... Bunn H.F. (J. Biol. Chem. 2004)
    4. Study of the individual cytochrome b5 and cytochrome b5 reductase domains of Ncb5or reveals a unique heme pocket and a possible role of the CS domain. (PubMed id 20630863)1, 2 Deng B.... Zhu H. (J. Biol. Chem. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Natural mutations lead to enhanced proteasomal degradation of human Ncb5or, a novel flavoheme reductase. (PubMed id 23523930)1 KA!lmA!n F.S....Kereszturi E. (Biochimie 2013)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (Sci Signal 2012)
    9. Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity. (PubMed id 22627575)1 Percy M.J....Lappin T.R. (J. Pediatr. Hematol. Oncol. 2012)
    10. N-terminal acetylome analyses and functional insights of the N- terminal acetyltransferase NatB. (PubMed id 22814378)2 Van Damme P....Aldabe R. (Proc. Natl. Acad. Sci. U.S.A. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 51167 HGNC: 20147 AceView: NCB5OR Ensembl:ENSG00000065615 euGenes: HUgn51167
    ECgene: CYB5R4 H-InvDB: CYB5R4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CYB5R4 Pharmacogenomics, SNPs, Pathways
    SeattleSNPshttp://pga.gs.washington.edu/data/cyb5r4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CYB5R4 gene:
    Search GeneIP for patents involving CYB5R4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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