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

NDUFS8 Gene

protein-coding   GIFtS: 64
GCID: GC11P067798

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8, 23kDa (NADH-Coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme...)
Alzheimer's & Parkinson's Diseases Congress
  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
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8, 23kDa (NADH-Coenzyme Q
Reductase)1 2
     CI23KD2
Complex I 23kDa Subunit1 2     TYKY2
Complex I-23kD2 3     NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 8, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 23 KDa Subunit2 3     CI-23kD3
mitochondrial1     EC 1.6.5.33
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 8 (23kD) (NADH-Coenzyme Q
Reductase)1
     EC 1.6.99.33
NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 81     TYKY Subunit3
CI-23k2     EC 1.6.99.58

External Ids:    HGNC: 77151   Entrez Gene: 47282   Ensembl: ENSG000001107177   OMIM: 6021415   UniProtKB: O002173   

Export aliases for NDUFS8 gene to outside databases

Previous GC identifers: GC11P070321 GC11P069494 GC11P068048 GC11P067573 GC11P067554 GC11P064133


(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 NDUFS8 Gene:
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of
the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from
mitochondria. The encoded protein is involved in the binding of two of the six to eight iron-sulfur clusters of
Complex I and, as such, is required in the electron transfer process. Mutations in this gene have been associated
with Leigh syndrome. (provided by RefSeq, Mar 2010)

GeneCards Summary for NDUFS8 Gene: 
NDUFS8 (NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)) is a protein-coding gene. Diseases associated with NDUFS8 include leigh disease, and mitochondrial dna deletion syndromes, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and electron carrier activity.

UniProtKB/Swiss-Prot: NDUS8_HUMAN, O00217
Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
believed to belong to the minimal assembly required for 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 (By similarity). May donate electrons to ubiquinone

Gene Wiki entry for NDUFS8 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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFS8 gene promoter:
         NF-1   NF-1/L   AP-1   p53   Fra-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFS8 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFS8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFS8


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

NDUFS8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS8 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P067798:  view genomic region     (about GC identifiers)

Start:
67,798,084 bp from pter      End:
67,804,114 bp from pter
Size:
6,031 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: NDUS8_HUMAN, O00217 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial precursor  
Size: 210 amino acids; 23705 Da
Cofactor: Binds 2 4Fe-4S clusters per subunit (By similarity)
Subunit: Mammalian complex I is composed of 45 different subunits
Subcellular location: Mitochondrion (Probable)
Secondary accessions: B2RB86 Q0VDA8

Explore the universe of human proteins at neXtProt for NDUFS8: NX_O00217

Explore proteomics data for NDUFS8 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00217

  • 2 DME Specific Peptides for NDUFS8 (O00217)
     CPAQAITIEA  SPRFRGEHALRRYP 

    NDUFS8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFS8 Protein Expression
    REFSEQ proteins: NP_002487.1  
    ENSEMBL proteins: 
     ENSP00000315774   ENSP00000403972   ENSP00000433645   ENSP00000432848   ENSP00000433054  
     ENSP00000436287   ENSP00000433521   ENSP00000432968   ENSP00000431293   ENSP00000434283  
    Reactome Protein details: O00217
    Human Recombinant Protein Products for NDUFS8: 
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    Cloud-Clone Corp. Proteins for NDUFS8 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0016020membrane ----

    NDUFS8 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comI: Mitochondrial respiratory chain complex / Complex I

    5 InterPro protein domains:
     IPR010226 NADH_quinone_OxRdtase_chainI
     IPR001450 4Fe4S-bd_dom
     IPR017900 4Fe4S_Fe_S_CS
     IPR012285 Fum_reductase_C
     IPR017896 4Fe4S_Fe-S-bd

    Graphical View of Domain Structure for InterPro Entry O00217

    ProtoNet protein and cluster: O00217

    UniProtKB/Swiss-Prot: NDUS8_HUMAN, O00217
    Similarity: Belongs to the complex I 23 kDa subunit family
    Similarity: Contains 2 4Fe-4S ferredoxin-type domains


    NDUFS8 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: NDUS8_HUMAN, O00217
    Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is
    believed to belong to the minimal assembly required for 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 (By similarity). May donate electrons to ubiquinone
    Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
    Catalytic activity: NADH + acceptor = NAD(+) + reduced acceptor

         Genatlas biochemistry entry for NDUFS8:
    NADH ubiquinone oxidoreductase (Q reductase),23kDa,component of the complex I multi-subunit enzyme of the
    oxidative phosphorylation (OXPHOS),iron-sulfur protein 8,inner mitochondrial membrane,TYKY subunit required for
    proper assembly of complex I

         Enzyme Numbers (IUBMB): EC 1.6.99.31 EC 1.6.99.52 EC 1.6.5.31

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954contributes to NADH dehydrogenase activity IMP14749350
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
    GO:0009055electron carrier activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
         
    NDUFS8 for ontologies           About GeneDecksing


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    (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 NDUFS8 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 disease0.61
    Respiratory electron transport0.81
    Oxidative phosphorylation0.51
    Electron Transport Chain0.75
    Huntington's disease0.47
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Alzheimer's disease0.46
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFS8
        Electron Transport Chain
    Oxidative phosphorylation

    4        Reactome Pathways for NDUFS8
        Respiratory electron transport
    Metabolism
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    The citric acid (TCA) cycle and respiratory electron transport


    5/6         Kegg Pathways  (Kegg details for NDUFS8) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFS8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFS8

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

    5/298 Interacting proteins for NDUFS8 (O002172, 3 ENSP000003157744) via UniProtKB, MINT, STRING, and/or I2D (see all 298)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    GEMP550403, ENSP000002975964I2D: score=2 STRING: ENSP00000297596
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    NDUFA9Q167952, ENSP000002665444MINT-8079030 STRING: ENSP00000266544
    UQCRC1P319302, ENSP000002034074MINT-8079030 STRING: ENSP00000203407
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9666055
    GO:0006979response to oxidative stress IDA12857734
    GO:0022904respiratory electron transport chain TAS--
    GO:0032981mitochondrial respiratory chain complex I assembly IMP11112787
    GO:0044237cellular metabolic process TAS--

    NDUFS8 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

    NDUFS8 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for NDUFS8 (NDUS8)

    9 HMDB Compounds for NDUFS8    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--
    Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
    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 NDUFS8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--11086155 9576793 17139284 17016423 9837812

    1 Novoseek inferred chemical compound relationship for NDUFS8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iron-sulfur 58.5 4 9837812 (1)

    Search CenterWatch for drugs/clinical trials and news about NDUFS8 / NDUS8

    (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 NDUFS8 gene: 
    NM_002496.3  

    Unigene Cluster for NDUFS8:

    NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
    Hs.90443  [show with all ESTs]
    Unigene Representative Sequence: AK002110
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000432321(uc010rpz.2) ENST00000313468(uc001onc.3 uc009ysb.2)
    ENST00000531796 ENST00000453471 ENST00000526446 ENST00000528492 ENST00000532399
    ENST00000531228 ENST00000526339 ENST00000525419 ENST00000525628 ENST00000529645
    ENST00000524810 ENST00000526542 ENST00000531282

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    Additional mRNA sequence: 

    AK002110.1 AK223114.1 AK314546.1 BC119753.1 BC119754.2 U65579.1 

    13 DOTS entries:

    DT.214409  DT.100825467  DT.97859647  DT.120721261  DT.92440796  DT.92440792  DT.97859650  DT.100038006 
    DT.120721254  DT.97859648  DT.100038004  DT.100825466  DT.40118197 

    24/277 AceView cDNA sequences (see all 277):

    BM914042 D45735 BE264899 CB106786 AW467286 BU736963 BM692994 BF337776 
    BG568101 BM993343 CB106737 BM704890 BM668344 BG327849 BM704859 BM694349 
    BQ009225 BQ671110 BE383092 CF129664 BI752804 BM691204 CA406936 BM810289 

    GeneLoc Exon Structure

    5/16 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS8 (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^
    SP1:                                -     -     -     -     -                       -     -     -     -                             -     -     -               
    SP2:                                -     -     -     -     -                       -     -     -     -                             -     -     -               
    SP3:                                            -     -     -                       -     -     -     -                             -     -     -               
    SP4:                                                  -     -                       -     -     -     -                             -     -     -               
    SP5:                                                                                -     -     -     -     -                       -     -     -               

    ExUns: 12a · 12b · 12c · 12d
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for NDUFS8

    (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

    NDUFS8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAGCTGCT
    NDUFS8 Expression
    About this image


    See NDUFS8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFS8

    SOURCE GeneReport for Unigene cluster: Hs.90443
        SABiosciences Expression via Pathway-Focused PCR Array including NDUFS8: 
              Mitochondrial Energy Metabolism in human mouse rat

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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 eukaryotes.

    Orthologs for NDUFS8 gene from 9/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufs81 , 5 NADH dehydrogenase (ubiquinone) Fe-S protein 81, 5 84.7(n)1
    90.82(a)1
      19 (3.63 cM)5
    2258871  NM_144870.41  NP_659119.21 
     39088705 
    chicken
    (Gallus gallus)
    Aves NDUFS81 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa more 83.25(n)
    90.05(a)
      769492  XM_001232779.2  XP_001232780.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS86
    Uncharacterized protein
    80(a)
    1 ↔ 1
    AAWZ02036345(10260-14998)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.334702 Xenopus laevis transcribed sequence with moderate similarity more 77(n)    CD301980.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb30b072 Danio rerio NADH-coenzyme Q reductase, mRNA (cDNA clone more 82.47(n)    BC058299.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ND231 , 3 NADH dehydrogenase (ubiquinone)3
    NADH:ubiquinone reductase 23kD subunit precursor1
    82(a)3
    76.57(n)1
    82.86(a)1
      89A53
    442071  NM_079980.31  NP_524719.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T20H4.51 , 3 Mitochondrial complex I 23K chain3
    Protein T20H4.51
    68(a)3
    62.56(n)1
    70.44(a)1
      III(7304913-7306460)3
    1760231  NM_066194.31  NP_498595.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G167001 Alpha-helical ferredoxin 68.29(n)
    78.66(a)
      838239  NM_101530.3  NP_173114.1 
    rice
    (Oryza sativa)
    Liliopsida Os.119022 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.61(n)    AK065851.1 


    ENSEMBL Gene Tree for NDUFS8 (if available)
    TreeFam Gene Tree for NDUFS8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/219 SNPs in NDUFS8 are shown (see all 219)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195394
    Leigh syndrome (LS)4--see VAR_0195392 R H mis40--------
    rs289396791,2,4
    CLeigh syndrome (LS)4 pathogenic167722241(+) GGAACC/TGGCCA 2 P L mis10--------
    rs1219126391,2
    Cpathogenic167722259(+) CTACCC/TGTTCG 2 P L mis10--------
    rs1219126381,2
    Cpathogenic167722310(+) GCTGCA/GCCGGT 2 H R mis10--------
    rs1110335881,2
    Cpathogenic167725376(+) CAGCCA/GCCGGA 2 H R mis10--------
    rs1847974431,2
    --67720375(+) AGTTTA/CCAGCA 1 -- int10--------
    rs1417590531,2
    --67720376(+) GTTTCC/TAGCAG 1 -- int10--------
    rs1445238411,2
    --67720550(+) ATTCTC/TCTACC 1 -- int10--------
    rs9995711,2
    C,F,H--67720893(-) GCCCCC/TGCCAG 1 -- int122Minor allele frequency- T:0.16EA NS NA WA 2880
    rs118247811,2
    C,F,H--67721107(+) CATCTG/CTGCCT 1 -- int19Minor allele frequency- C:0.09NS EA WA NA CSA 546

    HapMap Linkage Disequilibrium report for NDUFS8 (67798084 - 67804114 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for NDUFS8 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2672926CNV Deletion23128226
    esv2744657CNV Deletion23290073
    dgv1205n71CNV Loss21882294
    nsv469964CNV Loss18288195
    dgv1203n71CNV Loss21882294
    dgv156n27CNV Loss19166990
    dgv1204n71CNV Loss21882294
    dgv1208n71CNV Loss21882294
    dgv1207n71CNV Loss21882294
    nsv897850CNV Loss21882294


    Human Gene Mutation Database (HGMD): NDUFS8
    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602141   
    OMIM disorders: 256000  
    UniProtKB/Swiss-Prot: NDUS8_HUMAN, O00217
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by
    the presence of focal, bilateral lesions in one or more areas of the central nervous system including the
    brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the
    central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia,
    weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 11 diseases for NDUFS8:    About MalaCards
    leigh disease    mitochondrial dna deletion syndromes    mitochondrial dna-associated leigh syndrome and narp    mitochondrial complex i deficiency
    adrenocortical carcinoma    mitochondrial disorders    encephalomyopathy    huntington's disease
    parkinson's disease    tuberculosis    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for NDUFS8:
    Leigh disease

    NDUFS8 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    1 Novoseek inferred disease relationship for NDUFS8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leigh syndrome 89.2 1 15159508 (1)

    Genetic Association Database (GAD): NDUFS8
    Human Genome Epidemiology (HuGE) Navigator: NDUFS8 (5 documents)

    Export disorders for NDUFS8 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 NDUFS8 gene, integrated from 9 sources (see all 41):
    (articles sorted by number of sources associating them with NDUFS8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. (PubMed id 9837812)1, 2, 7, 9 Loeffen J.... van den Heuvel L. (1998)
    2. Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase. (PubMed id 9666055)1, 2, 3, 9 de Sury R.... Issartel J.-P. (1998)
    3. cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I. (PubMed id 9116042)1, 2, 3, 9 Procaccio V....Issartel J.P. (1997)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    6. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PubMed id 19343046)1, 4 Saito A....Kamatani N. (2009)
    7. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey. (PubMed id 18977241)1, 4 Starr J.M....Deary I.J. (2008)
    8. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition. (PubMed id 17601350)1, 4 Harris S.E....Deary I.J. (2007)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. 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. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 4728 HGNC: 7715 AceView: NDUFS8 Ensembl:ENSG00000110717 euGenes: HUgn4728
    ECgene: NDUFS8 Kegg: 4728 H-InvDB: NDUFS8

    (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 NDUFS8 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFS8

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDUFS8 gene:
    Search GeneIP for patents involving NDUFS8

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



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