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NDUFS2 Gene

protein-coding   GIFtS: 67
GCID: GC01P161166

NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2, 49kDa (NADH-Coenzyme...

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme...)
  See NDUFS2-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)
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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2, 49kDa (NADH-Coenzyme Q
Reductase)1 2
     CI-492
Complex I 49kDa Subunit1 2     Complex 1, Mitochondrial Respiratory Chain, 49-KD Subunit2
Complex I-49kD2 3     NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 2, Mitochondrial2
CI-49kD2 3     NADH-Ubiquinone Oxidoreductase NDUFS2 Subunit2
NADH-Ubiquinone Oxidoreductase 49 KDa Subunit2 3     EC 1.6.5.33
mitochondrial1     EC 1.6.99.33
NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2 (49kD) (NADH-Coenzyme Q
Reductase)1
     EC 1.6.99.58
NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 21     

External Ids:    HGNC: 77081   Entrez Gene: 47202   Ensembl: ENSG000001588647   OMIM: 6029855   UniProtKB: O753063   
ORGUL members:         

Export aliases for NDUFS2 gene to outside databases

Previous GC identifers: GC01P158880 GC01P156901 GC01P157946 GC01P158385 GC01P157983 GC01P159435 GC01P132526


(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 NDUFS2 Gene:
The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH
dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of
which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur
protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH
oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this
gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding
different isoforms have been found for this gene.(provided by RefSeq, Oct 2009)

GeneCards Summary for NDUFS2 Gene:
NDUFS2 (NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)) is a protein-coding gene. Diseases associated with NDUFS2 include tricuspid valve prolapse, and mitochondrial complex i deficiency. GO annotations related to this gene include 4 iron, 4 sulfur cluster binding and electron carrier activity.

UniProtKB/Swiss-Prot: NDUS2_HUMAN, O75306
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)

Gene Wiki entry for NDUFS2 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_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFS2 gene promoter:
         MAZR   MyoD   CUTL1   NF-kappaB   NF-E2 p45   C/EBPalpha   PPAR-gamma1   PPAR-gamma2   NF-kappaB1   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NDUFS2 promoter sequence
   Search Chromatin IP Primers for NDUFS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFS2


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

Entrez Gene cytogenetic band: 1q23   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

NDUFS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFS2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P161166:  view genomic region     (about GC identifiers)

Start:
161,166,894 bp from pter      End:
161,184,185 bp from pter
Size:
17,292 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., 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: NDUS2_HUMAN, O75306 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial precursor  
Size: 463 amino acids; 52546 Da
Cofactor: Binds 1 4Fe-4S cluster
Subunit: Complex I is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme.
Interacts with NDUFAF3 and NDUFAF7
Secondary accessions: D3DVG7 J3KPM7 Q5VTW0 Q969P3 Q9UEV3
Alternative splicing: 2 isoforms:  O75306-1   O75306-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NDUFS2: NX_O75306

Explore proteomics data for NDUFS2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for NDUFS2 (O75306) (see all 17)
     SGARMHA  GDCYDRY  AYIRPGG  MSKGHML 


    See NDUFS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001159631.1  NP_004541.1  

    ENSEMBL proteins: 
     ENSP00000356972   ENSP00000376018   ENSP00000446447  
    Reactome Protein details: O75306

    NDUFS2 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

    3 InterPro protein domains:
     IPR001135 NADH_Q_OxRdtase_suD
     IPR014029 NADH_UbQ_OxRdtase_49kDa_CS
     IPR022885 NDH1_su_D/H

    Graphical View of Domain Structure for InterPro Entry O75306

    ProtoNet protein and cluster: O75306

    2 Blocks protein domains:
    IPB001135 NADH-ubiquinone oxidoreductase
    IPB014029 NADH-ubiquinone oxidoreductase


    UniProtKB/Swiss-Prot: NDUS2_HUMAN, O75306
    Similarity: Belongs to the complex I 49 kDa subunit family


    Find genes that share domains with NDUFS2           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: NDUS2_HUMAN, O75306
    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)
    Catalytic activity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
    Catalytic activity: NADH + acceptor = NAD(+) + reduced acceptor

         Genatlas biochemistry entry for NDUFS2:
    NADH ubiquinone oxidoreductase (Q reductase) component of the complex I multisubunit enzyme of the oxidative
    phosphorylation (OXPHOS),iron-sulfur protein 2,49kDa

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003954contributes to NADH dehydrogenase activity IMP14749350
    GO:0005515protein binding IPI15250827
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9647766
    GO:0009055electron carrier activity NAS9647766
    GO:0016651oxidoreductase activity, acting on NAD(P)H ----
         
    Find genes that share ontologies with NDUFS2           About GenesLikeMe


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target NDUFS2:
    hsa-mir-940 (MIRT036624), hsa-let-7a-5p (MIRT052485)

    Block miRNA regulation of human, mouse, rat NDUFS2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate NDUFS2:
    hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidNDUFS2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NDUFS2

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    Sino Biological Human cDNA Clone for NDUFS2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFS2

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS2


    (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
    NDUS2_HUMAN, O75306: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion NAS9647766
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551

    Find genes that share ontologies with NDUFS2           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 NDUFS2 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
    4Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics0.43
    5Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic


    Find genes that share SuperPaths with NDUFS2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFS2
        Oxidative phosphorylation
    Electron Transport Chain


    1 Reactome Pathway for NDUFS2
        Respiratory electron transport

    2 PharmGKB Pathways for NDUFS2
        Doxorubicin Pathway, Pharmacokinetics
    Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for NDUFS2) (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 Array including NDUFS2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFS2

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

    Selected Interacting proteins for NDUFS2 (O753061, 2, 3 ENSP000003569724) via UniProtKB, MINT, STRING, and/or I2D (see all 312)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFS3O754891, 2, 3, ENSP000002637744EBI-1224806,EBI-1224896 MINT-8079030 I2D: score=1 STRING: ENSP00000263774
    CENPUQ71F232, 3MINT-8263214 I2D: score=2 
    HMOX2P305192, 3MINT-8258346 I2D: score=2 
    NDUFAF3Q9BU612, 3, ENSP000003230764MINT-8079030 I2D: score=1 STRING: ENSP00000323076
    NDUFA9Q167952, 3, ENSP000002665444MINT-8079030 I2D: score=1 STRING: ENSP00000266544
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006120mitochondrial electron transport, NADH to ubiquinone NAS9647766
    GO:0006979response to oxidative stress IDA12857734
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with NDUFS2           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 NDUFS2 (NDUS2)

    9 HMDB Compounds for NDUFS2    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--

    2 DrugBank Compounds for NDUFS2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DoxorubicinAdria (see all 4)23214-92-8enzyme--9618942 12688675 2850270
    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 NDUFS2 gene (2 alternative transcripts): 
    NM_001166159.1  NM_004550.4  

    Unigene Cluster for NDUFS2:

    NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
    Hs.173611  [show with all ESTs]
    Unigene Representative Sequence: NM_001166159
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000479948 ENST00000496133 ENST00000367993(uc001fyv.3) ENST00000496553(uc001fyy.1)
    ENST00000467295 ENST00000475570 ENST00000478866 ENST00000473321 ENST00000483804
    ENST00000480762 ENST00000465923 ENST00000493849 ENST00000468828 ENST00000492153
    ENST00000392179(uc001fyw.3 uc010pkj.2) ENST00000476409(uc010pki.2)

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate NDUFS2:
    hsa-miR-32*
    SwitchGear 3'UTR luciferase reporter plasmidNDUFS2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NDUFS2
      QuantiFast Probe-based Assays in human, mouse, rat NDUFS2

    Additional mRNA sequence: 

    AF013160.1 AF050640.1 AK222618.1 AK301641.1 AK309871.1 AK314807.1 AK315977.1 BC000170.2 
    BC001456.1 BC008868.2 Z36812.1 

    Selected DOTS entries (see all 26):

    DT.114849  DT.100886910  DT.100886901  DT.95269216  DT.100886919  DT.97860097  DT.91764948  DT.121437202 
    DT.100760660  DT.121437216  DT.121437183  DT.95308876  DT.100886920  DT.100840284  DT.100886914  DT.100886922 
    DT.121437215  DT.95269220  DT.97778134  DT.100886918  DT.121437168  DT.91854075  DT.95269223  DT.97860096 

    Selected AceView cDNA sequences (see all 543):

    BU556652 CR604019 CB107605 BM763342 BQ441193 BQ722170 BF969231 BU682712 
    BI869516 CN484698 T61234 BG163435 BG679258 BU146461 CR601041 BQ052580 
    BQ649658 CB113397 BQ878772 AL557060 BQ006022 BG429751 AL531228 BQ953655 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS2 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^
    SP1:                                                        -                                   -                                                     -         
    SP2:                                                                                            -                                                               
    SP3:                                                        -                                   -                       -                                       
    SP4:                                                        -                       -     -     -                                                               
    SP5:                                                  -     -                                   -                                                               

    ExUns: 16 ^ 17a · 17b · 17c ^ 18
    SP1:              -     -         
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for NDUFS2

    (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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    NDUFS2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACTAAAAAA
    NDUFS2 Expression
    About this image


    NDUFS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Colon (Gastrointestinal Tract)
     
     Kidney (Urinary System)
    NDUFS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.173611
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFS2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFS2

    (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 eukaryotes.

    Orthologs for NDUFS2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufs21 , 5 NADH dehydrogenase (ubiquinone) Fe-S protein 21, 5 89.49(n)1
    92.44(a)1
      1 (79.25 cM)5
    2266461  NM_153064.41  NP_694704.11 
     1712348535 
    chicken
    (Gallus gallus)
    Aves NDUFS21 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa more 77.12(n)
    92.9(a)
      100857596  XM_003643439.2  XP_003643487.2 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS26
    NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49...
    91(a)
    1 ↔ 1
    GL343519.1(219460-230032)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.247272 Xenopus laevis transcribed sequence with moderate similarity more 77.16(n)    BU901919.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndufs21 NADH dehydrogenase (ubiquinone) Fe-S protein 2 76.3(n)
    85.78(a)
      553672  NM_001020645.2  NP_001018481.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG19701 , 3 NADH dehydrogenase (ubiquinone)3
    CG19701
    73(a)
    (best of 2)3
    67.19(n)1
    76.34(a)1
      102C23
    437981  NM_001272135.11  NP_001259064.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gas-11 , 3 NADH-ubiquinone oxidoreductase 49KD
    subunit3
    gas-11
    73(a)
    (best of 2)3
    67.44(n)1
    73.64(a)1
      X(15622243-15625615)3
    1816461  NM_078168.41  NP_510569.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons nad71 nad7 62.53(n)
    71.06(a)
      814592  nad7_13449329  NP_085511.1 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.44342 Transcribed sequence with moderate similarity to protein more 70.98(n)    BQ471147.1 


    ENSEMBL Gene Tree for NDUFS2 (if available)
    TreeFam Gene Tree for NDUFS2 (if available)

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

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    (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)
    About This Section

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    Selected SNPs for NDUFS2 (see all 394)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195364
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0195362 P Q mis40--------
    VAR_0195354
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0195352 R Q mis40--------
    VAR_0195374
    Mitochondrial complex I deficiency (MT-C1D)4--see VAR_0195372 S P mis40--------
    rs2018632231,2
    Cuntested1167664053(+) TCGGGG/TTCTGG 1 -- us2k11Minor allele frequency- T:0.00EU 1321
    rs1425867171,2
    Cuntested1167678441(+) ATTATC/TGCACA 4 I syn10--------
    rs763623211,2
    C--132532902(+) CCATG-/AAAAAA 2 -- int10--------
    rs106297711,2
    C--132541006(+) GCCTC-/TG/TGTG
    /TGTGTGTG
    tgtgt
    6 -- ut310--------
    rs347267531,2
    C,F--161181515(+) GTATTTT/-GTTTT 2 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs1504686701,2
    --167663371(+) CGTGGC/TGGTTG 1 -- us2k10--------
    rs1384780181,2
    --167663442(+) AAGGGG/TGAGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFS2 (161166894 - 161184185 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for NDUFS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv32799CNV Gain17666407

    Human Gene Mutation Database (HGMD): NDUFS2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFS2
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFS2

    (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: 602985   
    OMIM disorders: 252010  
    UniProtKB/Swiss-Prot: NDUS2_HUMAN, O75306
  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory
    chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset
    neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific
    encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and
    some forms of Parkinson disease. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 2 diseases for NDUFS2:    
    About MalaCards
    tricuspid valve prolapse    mitochondrial complex i deficiency

    2 diseases from the University of Copenhagen DISEASES database for NDUFS2:
    Leigh disease     Tricuspid valve prolapse

    Find genes that share disorders with NDUFS2           About GenesLikeMe

    Genetic Association Database (GAD): NDUFS2
    Human Genome Epidemiology (HuGE) Navigator: NDUFS2 (14 documents)

    Export disorders for NDUFS2 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 NDUFS2 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with NDUFS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory complex I and immunodetection of the mature protein in mitochondria. (PubMed id 9585441)1, 2, 3 Procaccio V.... Issartel J.-P. (Mamm. Genome 1998)
    2. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    3. 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)
    4. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 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. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)- interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. (PubMed id 19463981)1, 2 Saada A....Nijtmans L.G. (Am. J. Hum. Genet. 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. (Mech. Ageing Dev. 2008)
    8. Polymorphisms in mitochondrial genes and prostate cancer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (amp 2008)
    9. Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. (PubMed id 18682780)1, 4 Ban M....Sawcer S. (PLoS ONE 2008)
    10. 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. (BMC Genet. 2007)

    (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: 4720 HGNC: 7708 AceView: NDUFS2 Ensembl:ENSG00000158864 euGenes: HUgn4720
    ECgene: NDUFS2 Kegg: 4720 H-InvDB: NDUFS2

    (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 NDUFS2 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 NDUFS2 gene:
    Search GeneIP for patents involving NDUFS2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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