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

NDUFS2 Gene

protein-coding   GIFtS: 66
GCID: GC01P161166

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

(Previous name: NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme...)
Alzheimer's & Parkinson's Diseases Congress
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(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 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   

Export aliases for NDUFS2 gene to outside databases

Previous GC identifers: GC01P158880 GC01P156901 GC01P157946 GC01P158385 GC01P157983 GC01P159435 GC01P132526


(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 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, 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: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NDUFS2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75306

  • 4/17 DME Specific Peptides for NDUFS2 (O75306) (see all 17)
     SGARMHA  GDCYDRY  AYIRPGG  MSKGHML 

    NDUFS2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFS2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001159631.1  NP_004541.1  

    ENSEMBL proteins: 
     ENSP00000356972   ENSP00000376018   ENSP00000446447  
    Reactome Protein details: O75306
    Human Recombinant Protein Products for NDUFS2: 
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    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion NAS9647766
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551

    NDUFS2 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

    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


    NDUFS2 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: 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): 5/9 molecular function terms (GO ID links to tree view) (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 ----
         
    NDUFS2 for ontologies           About GeneDecksing


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    Inhib. RNA
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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 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 disease0.61
    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
    3Doxorubicin Pathway, Pharmacokinetics
    Doxorubicin Pathway, Pharmacokinetics0.43
    4Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NDUFS2
        Electron Transport Chain
    Oxidative phosphorylation

    4        Reactome Pathways for NDUFS2
        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

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

    5/6         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


    NDUFS2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFS2

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

    5/308 Interacting proteins for NDUFS2 (O753061, 2, 3 ENSP000003569724) via UniProtKB, MINT, STRING, and/or I2D (see all 308)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NDUFS3O754891, 2, 3, ENSP000002637744EBI-1224806,EBI-1224896 MINT-8079030 I2D: score=1 STRING: ENSP00000263774
    HMOX2P305192, 3MINT-8258346 I2D: score=2 
    MLF1IPQ71F232, 3MINT-8263214 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): 5/6 biological process terms (GO ID links to tree view) (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--

    NDUFS2 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 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

    Search CenterWatch for drugs/clinical trials and news about NDUFS2 / NDUS2

    (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 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)


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    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 

    24/26 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 

    24/543 AceView cDNA sequences (see all 543):

    AU123417 CB140043 BU542753 BX448875 BQ650199 BQ052580 BE019066 T61234 
    BQ441193 AI648404 BQ953655 BU625158 CR626795 CR597109 CB126905 AL531228 
    BU502739 BP377643 AI858767 BQ130590 BU848941 CB131530 BC008868 BU151550 

    GeneLoc Exon Structure

    5/11 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™, 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

    NDUFS2 expression in normal human tissues (normalized intensities)      NDUFS2 embryonic expression: see
    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 
     5/22 selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Bone (Muscoskeletal System)    fully expand to see all 2 entries
             sensory organ/ear/inner ear   

    See NDUFS2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFS2

    SOURCE GeneReport for Unigene cluster: Hs.173611
        SABiosciences Expression via Pathway-Focused PCR Array including NDUFS2: 
              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 NDUFS2 gene from 9/21 species (see all 21)    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 LOC1008575961 NADH dehydrogenase [ubiquinone] iron-sulfur protein more 78.22(n)
    96.06(a)
      100857596  XM_003643439.1  XP_003643487.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFS26
    Uncharacterized protein
    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_143669.11  NP_651926.11 
    worm
    (Caenorhabditis elegans)
    Secernentea gas-11 , 3 NADH-ubiquinone oxidoreductase 49KD
    subunit3
    Protein GAS-11
    73(a)
    (best of 2)3
    67.44(n)1
    73.64(a)1
      X(15622243-15625615)3
    1816461  NM_078168.31  NP_510569.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons nad71 NADH dehydrogenase subunit 7 62.53(n)
    71.06(a)
      814592  nad7_13449329  NP_085511.1 
    rice
    (Oryza sativa)
    Liliopsida nad71 NADH dehydrogenase subunit 7 61.5(n)
    69.77(a)
      3950739  nad7_89280745  YP_514643.1 


    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
      --

    (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

    10/394 SNPs in NDUFS2 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 18 diseases for NDUFS2:    About MalaCards
    tricuspid valve prolapse    mitochondrial complex i deficiency    leber hereditary optic neuropathy    leukodystrophy
    encephalomyopathy    huntington's disease    neuropathy    meningioma
    parkinson's disease    myopathy    multiple sclerosis    liver disease
    tuberculosis    hepatitis b    hepatitis    alzheimer's disease
    leukemia    prostatitis

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

    NDUFS2 for disorders           About GeneDecksing


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

    PubMed articles for NDUFS2 gene, integrated from 9 sources (see all 61):
    (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. (1998)
    2. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (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. 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. (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. Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. (PubMed id 18682780)1, 4 Ban M....Sawcer S. (2008)
    9. Polymorphisms in mitochondrial genes and prostate can cer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (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. (2007)

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

    (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 NDUFS2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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