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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYB5R4 Gene

protein-coding   GIFtS: 59
GCID: GC06P084569

Cytochrome B5 Reductase 4

(Previous name: NADPH cytochrome B5 oxidoreductase)
(Previous symbol: NCB5OR)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome B5 Reductase 41 2     EC 1.6.2.23 8
NCB5OR1 2 3 5     RP4-676J13.12
NADPH Cytochrome B5 Oxidoreductase1 2     Cytochrome B-Type NAD(P)H Oxidoreductase2
Flavohemoprotein B5/B5R2 3     dJ676J13.12
cb5/cb5R2 3     Flavohemoprotein B5+B5R2
N-Terminal Cytochrome B5 And Cytochrome B5 Oxidoreductase
Domain-Containing Protein2 3
     b5+b5R3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and maturity-onset diabetes of the young, and among its related super-pathways are Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include NAD(P)H oxidase activity and heme binding. An important paralog of this gene is CYB5R3.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007299.13  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CYB5R4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
84,673,238 bp from pter
Size:
103,877 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NB5R4_HUMAN, Q7L1T6 (See protein sequence)
Recommended Name: Cytochrome b5 reductase 4  
Size: 521 amino acids; 59474 Da
Cofactor: FAD
Subcellular location: Endoplasmic reticulum. Note=Soluble protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7L1T6

  • 4/7 DME Specific Peptides for CYB5R4 (Q7L1T6) (see all 7)
     DCWICIRG  RLTKSGKD  SKEDVTHDT  DWIRLTKSG 

    CYB5R4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYB5R4 Protein Expression
    REFSEQ proteins: NP_057314.2  
    ENSEMBL proteins: 
     ENSP00000358695   ENSP00000358693  

    Human Recombinant Protein Products for CYB5R4: 
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    Novus Biologicals CYB5R4 Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CYB5R4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    CYB5R4 for ontologies           About GeneDecksing



    CYB5R4 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for CYB5R4 
    Cloud-Clone Corp. CLIAs for CYB5R4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/10 InterPro protein domains (see all 10):
     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


    CYB5R4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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 ----
    GO:0016653oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor IDA15131110
         
    CYB5R4 for ontologies           About GeneDecksing


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

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

    CYB5R4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cyb5r4tm1Hfb for CYB5R4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYB5R4 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CYB5R4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CYB5R4 

    miRNA
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    miRTarBase miRNAs that target CYB5R4:
    hsa-mir-373 (MIRT004438)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYB5R4
    8/19 QIAGEN miScript miRNA 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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                         Customized lentivirus expression plasmids for stable overexpression of CYB5R4 

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


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYB5R4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    cytochrome P4500.75


    1 BioSystems Pathway for CYB5R4
        cytochrome P450


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CYB5R4

    1 Interacting protein for CYB5R4 (Q7L1T63) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CIDEAO605433I2D: score=1 
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003032detection of oxygen NAS10611283
    GO:0006091generation of precursor metabolites and energy IDA10611283
    GO:0006801superoxide metabolic process IDA10611283
    GO:0030073insulin secretion ISS--
    GO:0042593glucose homeostasis ISS--

    CYB5R4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    Search CenterWatch for drugs/clinical trials and news about CYB5R4 / NB5R4

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CYB5R4
    8/19 QIAGEN miScript miRNA 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
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CYB5R4
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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 

    24/91 AceView cDNA sequences (see all 91):

    BM904149 AA402753 AA600147 R36810 BX404528 AA383050 AI377981 CB131642 
    BQ212318 CA450414 AA287189 R70025 BQ045415 AI286063 CA489055 CB052177 
    AL514674 CB123204 BC029339 BC025380 BQ434535 AA287098 AA400638 BF515025 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See CYB5R4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYB5R4

    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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    (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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CYB5R4 gene from 7/15 species (see all 15)    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_001233870.2  XP_001233871.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYB5R46
    cytochrome b5 reductase 4
    65(a)
    1 ↔ 1
    1(197284072-197315449)
    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 45.05(n)
    34.53(a)
      37227  NM_137575.2  NP_611419.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y52B11A.31 Protein Y52B11A.3 46.28(n)
    35.67(a)
      173002  NM_001026613.3  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)
    About This Section
    Paralogs for CYB5R4 gene
    CYB5R32  CYB5R22  CYB5R12  
    3 SIMAP similar genes for CYB5R4 using alignment to 1 protein entry:     NB5R4_HUMAN:
    CYB5A    DKFZp686M0619    CYB5R3

    CYB5R4 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: NB5R4_HUMAN, Q7L1T6
    Polymorphism: Variants Arg-187 and Arg-223 do not influence the pathogenesis of non-autoimmune diabetes


    10/1869 SNPs in CYB5R4 are shown (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--------
    VAR_0323234
    ----see VAR_0323232 Q R 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--------

    HapMap Linkage Disequilibrium report for CYB5R4 (84569362 - 84673238 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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608343    OMIM disorders: --

    6 diseases for CYB5R4:    About MalaCards
    methemoglobinemia    maturity-onset diabetes of the young    gestational diabetes    cytochrome p450
    diabetes mellitus    pancreatitis

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

    CYB5R4 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for CYB5R4 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with CYB5R4)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (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. (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. (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. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    7. Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity. (PubMed id 22627575)1 Percy M.J....Lappin T.R. (2012)
    8. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    9. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 51167 HGNC: 20147 AceView: NCB5OR Ensembl:ENSG00000065615 euGenes: HUgn51167
    ECgene: CYB5R4 H-InvDB: CYB5R4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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