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NDUFB6 Gene

protein-coding   GIFtS: 57
GCID: GC09M032510

NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 6, 17kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD,...)
  See NDUFB6-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
NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 6, 17kDa1 2     NADH Dehydrogenase (Ubiquinone) 1 Beta Subcomplex, 6 (17kD, B17)1
NADH-Ubiquinone Oxidoreductase B17 Subunit1 2 3     NADH-Ubiquinone Oxidoreductase Beta Subunit1
Complex I-B172 3     B172
CI-B172 3     CI2
61     Complex I, Mitochondrial Respiratory Chain, B17 Subunit2
B17 Subunit1     NADH Dehydrogenase [Ubiquinone] 1 Beta Subcomplex Subunit 62
Complex I1     NADH-Ubiquinone Oxidoreductase Beta Subunit, 62
Mitochondrial Respiratory Chain1     

External Ids:    HGNC: 77011   Entrez Gene: 47122   Ensembl: ENSG000001652647   OMIM: 6033225   UniProtKB: O951393   

Export aliases for NDUFB6 gene to outside databases

Previous GC identifers: GC09M032865 GC09M032723 GC09M032543


(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 NDUFB6 Gene:
The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I).
Mammalian complex I is composed of 45 different subunits. It locates at the mitochondrial inner membrane. This
protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the
respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Alternative
splicing occurs at this locus and three transcript variants encoding distinct isoforms have been identified.
(provided by RefSeq, Jan 2011)

GeneCards Summary for NDUFB6 Gene:
NDUFB6 (NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa) is a protein-coding gene. Diseases associated with NDUFB6 include mitochondrial complex i deficiency. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUB6_HUMAN, O95139
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the
respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone

Gene Wiki entry for NDUFB6 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_000009.11  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFB6 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFB6 promoter sequence
   Search Chromatin IP Primers for NDUFB6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFB6


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

Entrez Gene cytogenetic band: 9p21.1   Ensembl cytogenetic band:  9p21.1   HGNC cytogenetic band: 9p13.2

NDUFB6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFB6 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M032510:  view genomic region     (about GC identifiers)

Start:
32,552,997 bp from pter      End:
32,573,182 bp from pter
Size:
20,186 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NDUB6_HUMAN, O95139 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 6  
Size: 128 amino acids; 15489 Da
Subunit: Complex I is composed of 45 different subunits
Secondary accessions: A8K0Y7 Q5VYT2 Q6IB84
Alternative splicing: 2 isoforms:  O95139-1   O95139-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NDUFB6: NX_O95139

Explore proteomics data for NDUFB6 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys9, Lys49, Lys54, Lys93
  • Modification sites at PhosphoSitePlus

  • See NDUFB6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001186916.1  NP_002484.1  NP_877416.1  

    ENSEMBL proteins: 
     ENSP00000369176   ENSP00000297983  
    Reactome Protein details: O95139

    NDUFB6 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    comI: Mitochondrial respiratory chain complex / Complex I

    1 InterPro protein domain:
     IPR019174 NADH_DH_b-subcmplx_su6

    Graphical View of Domain Structure for InterPro Entry O95139

    ProtoNet protein and cluster: O95139

    UniProtKB/Swiss-Prot: NDUB6_HUMAN, O95139
    Similarity: Belongs to the complex I NDUFB6 subunit family


    Find genes that share domains with NDUFB6           About GenesLikeMe


    (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,
    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: NDUB6_HUMAN, O95139
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
    is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the
    respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone

         Genatlas biochemistry entry for NDUFB6:
    NADH ubiquinone oxidoreductase (Q reductase),17kDa,component beta 6,hydrophobic fraction of the complex I
    multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
         
    Find genes that share ontologies with NDUFB6           About GenesLikeMe


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target NDUFB6:
    hsa-mir-125a-5p (MIRT021295), hsa-mir-186-5p (MIRT044986), hsa-mir-10a-5p (MIRT025612)

    Block miRNA regulation of human, mouse, rat NDUFB6 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NDUFB6:
    hsa-miR-222*
    SwitchGear 3'UTR luciferase reporter plasmidNDUFB6 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
    NDUB6_HUMAN, O95139: Mitochondrion inner membrane; Single-pass membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    nucleus4
    cytosol2
    extracellular1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with NDUFB6           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 NDUFB6 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.0.81
    Parkinson's disease0.57
    Respiratory electron transport0.81
    Oxidative phosphorylation0.51
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3Alzheimer's disease
    Alzheimer's disease0.44


    Find genes that share SuperPaths with NDUFB6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFB6
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for NDUFB6
        Respiratory electron transport


    Selected Kegg Pathways  (Kegg details for NDUFB6) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NDUFB6: 
              Mitochondrial Energy Metabolism in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NDUFB6

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

    Selected Interacting proteins for NDUFB6 (O951392, 3 ENSP000003691764) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFS3O754892, 3, ENSP000002637744MINT-4981243 I2D: score=2 STRING: ENSP00000263774
    NDUFA9Q167952, ENSP000002665444MINT-4981243 STRING: ENSP00000266544
    NDUFS5O439202, ENSP000003620584MINT-4981243 STRING: ENSP00000362058
    SNCAP378403, ENSP000003383454I2D: score=1 STRING: ENSP00000338345
    TMBIM4Q9HC243, ENSP000003509654I2D: score=1 STRING: ENSP00000350965
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9878551
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NDUFB6           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 NDUFB6 (NDUB6)

    8 HMDB Compounds for NDUFB6    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    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--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for NDUFB6    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (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 NDUFB6 gene (3 alternative transcripts): 
    NM_001199987.1  NM_002493.4  NM_182739.2  

    Unigene Cluster for NDUFB6:

    NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa
    Hs.493668  [show with all ESTs]
    Unigene Representative Sequence: BG538489
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379847(uc003zre.2 uc003zrf.2 uc022bfg.1) ENST00000350021

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidNDUFB6 3' UTR sequence
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    Additional mRNA sequence: 

    AF035840.1 AF067167.1 AK289702.1 BC009801.1 BC016708.1 BC029247.1 CR456920.1 

    15 DOTS entries:

    DT.92432650  DT.117406  DT.121195859  DT.100815325  DT.100665071  DT.91638995  DT.95276696  DT.121195801 
    DT.121195849  DT.91729399  DT.92432643  DT.120978785  DT.95276695  DT.95325964  DT.97764369 

    Selected AceView cDNA sequences (see all 211):

    CB155752 BM857671 AI344520 C16589 AA371853 AW160372 AA074188 CD678287 
    AA316378 AI874275 CB109688 BC029247 BI962813 AI302218 AI199937 BM705232 
    NM_182739 AA609167 AA771787 CB129637 AA953275 AI311025 NM_002493 BX111809 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFB6    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c
    SP1:                                -                           
    SP2:                                -     -                     
    SP3:                          -     -                           
    SP4:                                                            


    ECgene alternative splicing isoforms for NDUFB6

    (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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    NDUFB6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NDUFB6 Expression
    About this image


    NDUFB6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    NDUFB6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFB6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.493668
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NDUFB6: 
              Mitochondrial Energy Metabolism in human mouse rat
              Fatty Liver in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFB6

    (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 chordates.

    Orthologs for NDUFB6 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufb61 , 5 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, more1, 5 77.6(n)1
    70.31(a)1
      4 (20.24 cM)5
    2300751  NM_001033305.21  NP_001028477.11 
     402705915 
    chicken
    (Gallus gallus)
    Aves NDUFB61 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, more 60.94(n)
    58.59(a)
      416391  NM_001277525.1  NP_001264454.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFB66
    NADH dehydrogenase (ubiquinone) 1 beta subcomplex,...
    67(a)
    1 ↔ 1
    GL343463.1(71961-79049)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ndufb61 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, more 67.19(n)
    65.62(a)
      549244  NM_001016490.2  NP_001016490.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc733752 hypothetical protein MGC73375 73.57(n)   393781  BC059684.1 


    ENSEMBL Gene Tree for NDUFB6 (if available)
    TreeFam Gene Tree for NDUFB6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFB6 gene

    Find genes that share paralogs with NDUFB6           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NDUFB6
    PGOHUM00000240124


    (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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    Selected SNPs for NDUFB6 (see all 364)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs715234921,2
    C,F--32513820(+) TAATAG/CTAGAG 3 -- int13Minor allele frequency- C:0.50NA 6
    rs1453048001,2
    C--32521317(+) TTTTT-/AAAAAA 3 -- int10--------
    rs2000409131,2
    C--32521317(+) TTTTTA/TAAAAA 3 -- int10--------
    rs558041081,2
    C,F--32523627(+) TATAAC/TAAGCA 3 -- ds50012Minor allele frequency- T:0.11WA 120
    rs1413175441,2
    C--32523695(+) TAACA-/GCAACCTAAA
    TCTGACAGTCTTG
    AGTGT
    3 -- ds50010--------
    rs172183541,2
    C,F,H--32523761(+) TTTCTA/GAATTC 3 -- ds500113Minor allele frequency- G:0.26NA NS EA WA 920
    rs1921686561,2
    --32523806(+) GAGACA/GGAGTC 3 -- ds50010--------
    rs1406741941,2
    --32523940(+) CCCGGC/GTAATT 3 -- ds50010--------
    rs1457643221,2
    --32523950(+) TTTTTA/TGTATT 3 -- ds50010--------
    rs1816063821,2
    --32524091(+) TCCTTA/GAAACA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for NDUFB6 (32552997 - 32573182 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NDUFB6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv831540CNV Gain17160897

    Human Gene Mutation Database (HGMD): NDUFB6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFB6
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFB6

    (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: 603322    OMIM disorders: --

    1 disease for NDUFB6:    
    About MalaCards
    mitochondrial complex i deficiency


    Find genes that share disorders with NDUFB6           About GenesLikeMe

    Genetic Association Database (GAD): NDUFB6
    Human Genome Epidemiology (HuGE) Navigator: NDUFB6 (3 documents)

    Export disorders for NDUFB6 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 NDUFB6 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with NDUFB6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I. (PubMed id 9760212)1, 2, 3 Smeitink J.... van den Heuvel L. (Hum. Genet. 1998)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. Short-term exercise training does not stimulate skeletal muscle ATP synthesis in relatives of humans with type 2 diabetes. (PubMed id 19265027)1, 4 Kacerovsky-Bielesz G....Roden M. (Diabetes 2009)
    4. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (J. Biol. Chem. 2003)
    9. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    10. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PubMed id 9763677)1, 3 Emahazion T....Brookes A.J. (Cytogenet. Cell Genet. 1998)

    (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: 4712 HGNC: 7701 AceView: NDUFB6 Ensembl:ENSG00000165264 euGenes: HUgn4712
    ECgene: NDUFB6 Kegg: 4712 H-InvDB: NDUFB6

    (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 NDUFB6 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NDUFB6 gene:
    Search GeneIP for patents involving NDUFB6

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



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