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

NDUFV2 Gene

protein-coding   GIFtS: 65
GCID: GC18P009092

NADH Dehydrogenase (Ubiquinone) Flavoprotein 2, 24kDa

(Previous name: NADH dehydrogenase (ubiquinone) flavoprotein 2 (24kD))
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) Flavoprotein 2, 24kDa1 2     Complex I, Mitochondrial Respitory Chain, 24 KD Subunit2
Complex I 24kDa Subunit1 2     NADH Dehydrogenase [Ubiquinone] Flavoprotein 2, Mitochondrial2
NADH-Ubiquinone Oxidoreductase 24 KDa Subunit2 3     NADH Dehydrogenase Ubiquinone Flavoprotein 2, Mitochondrial2
mitochondrial1     NADH-Ubiquinone Oxidoreductase Flavoprotein 22
NADH Dehydrogenase (Ubiquinone) Flavoprotein 2 (24kD)1     Nuclear-Encoded Mitochondrial NADH-Ubiquinone Reductase 24Kd Subunit2
NADH Dehydrogenase [Ubiquinone] Flavoprotein 21     EC 1.6.5.33
CI-24k2     EC 1.6.99.33

External Ids:    HGNC: 77171   Entrez Gene: 47292   Ensembl: ENSG000001781277   OMIM: 6005325   UniProtKB: P194043   

Export aliases for NDUFV2 gene to outside databases

Previous GC identifers: GC19M054373 GC18P009159


(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 NDUFV2 Gene:
The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the
transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in
the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron
transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have
been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed
pseudogene of this locus is found on chromosome 19. (provided by RefSeq, Oct 2009)

GeneCards Summary for NDUFV2 Gene: 
NDUFV2 (NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa) is a protein-coding gene. Diseases associated with NDUFV2 include blepharospasm, and bipolar disorder, and among its related super-pathways are Electron Transport Chain and Metabolic pathways. GO annotations related to this gene include electron carrier activity and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot: NDUV2_HUMAN, P19404
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 NDUFV2 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_000018.9  NT_010859.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFV2 gene promoter:
         Oct-B1   POU2F2 (Oct-2.1)   oct-B2   oct-B3   p53   POU2F2   POU2F2C   POU2F1   POU2F1a   POU2F2B   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFV2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFV2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFV2


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

Entrez Gene cytogenetic band: 18p11.22   Ensembl cytogenetic band:  18p11.22   HGNC cytogenetic band: 18p11.22

NDUFV2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFV2 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P009092:  view genomic region     (about GC identifiers)

Start:
9,102,628 bp from pter      End:
9,134,343 bp from pter
Size:
31,716 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: NDUV2_HUMAN, P19404 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor  
Size: 249 amino acids; 27392 Da
Cofactor: Binds 1 2Fe-2S cluster (Potential)
Subunit: Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP)
fragment of the enzyme
Subcellular location: Mitochondrion inner membrane
Secondary accessions: Q9BV41

Explore the universe of human proteins at neXtProt for NDUFV2: NX_P19404

Explore proteomics data for NDUFV2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P19404

  • NDUFV2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NDUFV2 Protein Expression
    REFSEQ proteins: NP_066552.2  
    ENSEMBL proteins: 
     ENSP00000461911   ENSP00000327268   ENSP00000464504   ENSP00000382908  
    Reactome Protein details: P19404
    Human Recombinant Protein Products for NDUFV2: 
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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 IDA12754703
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551

    NDUFV2 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

    2 InterPro protein domains:
     IPR012336 Thioredoxin-like_fold
     IPR002023 2Fe-2S_Ferredox

    Graphical View of Domain Structure for InterPro Entry P19404

    ProtoNet protein and cluster: P19404

    1 Blocks protein domain: IPB002023 NADH dehydrogenase (ubiquinone)

    UniProtKB/Swiss-Prot: NDUV2_HUMAN, P19404
    Similarity: Belongs to the complex I 24 kDa subunit family


    NDUFV2 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: NDUV2_HUMAN, P19404
    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 NDUFV2:
    NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative
    phosphorylation (OXPHOS),flavoprotein 2,inner mitochondrial membrane,involved in the susceptibility to Parkinson
    disease

         Enzyme Numbers (IUBMB): EC 1.6.99.31 EC 1.6.5.31

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9570948
    GO:0009055electron carrier activity NAS7488192
    GO:0016491oxidoreductase activity ----
    GO:0046872metal ion binding IEA--
    GO:00515372 iron, 2 sulfur cluster binding IEA--
         
    NDUFV2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for NDUFV2:
     Decreased viability  Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ndufv2):
     mortality/aging 

    NDUFV2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NDUFV2 
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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 NDUFV2 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 NDUFV2
        Electron Transport Chain
    Oxidative phosphorylation

    4        Reactome Pathways for NDUFV2
        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 NDUFV2) (see all 6):
        Oxidative phosphorylation
    Metabolic pathways
    Non-alcoholic fatty liver disease (NAFLD)
    Alzheimer's disease
    Parkinson's disease


    NDUFV2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFV2

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

    5/54 Interacting proteins for NDUFV2 (P194042, 3 ENSP000003272684) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SP110Q9HB582, 3, ENSP000002583814MINT-63536 I2D: score=5 STRING: ENSP00000258381
    KAT5Q929932, 3MINT-63535 I2D: score=5 
    CRMP1Q141942, 3MINT-63534 I2D: score=4 
    NDUFA2O436783, ENSP000002521024I2D: score=1 STRING: ENSP00000252102
    NDUFS2O753063, ENSP000003569724I2D: score=1 STRING: ENSP00000356972
    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 NAS9570948
    GO:0007399nervous system development IMP9570948
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    NDUFV2 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 NDUFV2 (NDUV2)

    8 HMDB Compounds for NDUFV2    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    IronArmco iron (see all 19)7439-89-6--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    QH2CoQH2 (see all 5)56275-39-9--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    1 DrugBank Compound for NDUFV2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--10716640 17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about NDUFV2 / NDUV2

    (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 NDUFV2 gene: 
    NM_021074.4  

    Unigene Cluster for NDUFV2:

    NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
    Hs.464572  [show with all ESTs]
    Unigene Representative Sequence: BM913384
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000577703 ENST00000318388(uc002knu.3) ENST00000497577 ENST00000583375
    ENST00000400033 ENST00000474350 ENST00000483511 ENST00000465096 ENST00000474740


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    Additional mRNA sequence: 

    AF147367.1 AK291865.1 AK312129.1 BC001632.1 BC017487.1 BC071689.1 CR456928.1 M22538.1 

    15 DOTS entries:

    DT.75189311  DT.455777  DT.121462288  DT.86852346  DT.95128794  DT.92441164  DT.70102367  DT.75103998 
    DT.95111315  DT.100724929  DT.121462126  DT.86852347  DT.86857170  DT.91710486  DT.95260621 

    24/287 AceView cDNA sequences (see all 287):

    CD367175 BM995605 CA429383 BM703400 BX417460 AA176527 BU737701 BC017487 
    BQ230844 BG185797 CB218086 CA421718 AA935157 AA176716 AA811237 CD364425 
    BF514383 N78386 BU789002 AF147367 BM765929 BM789853 CR618099 AI537789 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NDUFV2 expression in normal human tissues (normalized intensities)      NDUFV2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTCGAAACT
    NDUFV2 Expression
    About this image


    NDUFV2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             Olfactory Bulb   
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Membranous Facial Bones
             sensory organ/ear/inner ear   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Neural Crest (Gastrulation Derivatives)
             skeleton/cranium   

    See NDUFV2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFV2

    SOURCE GeneReport for Unigene cluster: Hs.464572
        SABiosciences Expression via Pathway-Focused PCR Array including NDUFV2: 
              Mitochondrial Energy Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFV2

    (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 NDUFV2 gene from 9/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufv21 , 5 NADH dehydrogenase (ubiquinone) flavoprotein 21, 5 90.69(n)1
    93.52(a)1
      17 (35.26 cM)5
    729001  NM_028388.21  NP_082664.11 
     660787955 
    chicken
    (Gallus gallus)
    Aves NDUFV21 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa 78.1(n)
    85.71(a)
      426488  XM_424129.3  XP_424129.3 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFV26
    Uncharacterized protein
    79(a)
    1 ↔ 1
    GL343319.1(468920-484975)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.209442 Xenopus laevis transcribed sequence with strong similarity more 91.37(n)    BX847160.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc731982 NADH dehydrogenase flavoprotein 2 75.5(n)   393720  BC059546.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57031 , 3 NADH dehydrogenase (ubiquinone)3
    CG57031
    72(a)
    (best of 2)3
    64.04(n)1
    71.76(a)1
      16B103
    327401  NM_133000.21  NP_573228.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F53F4.103
    CELE_F53F4.101
    NADH-ubiquinone dehydrogenase 24 KD
    subunit3
    Protein F53F4.101
    66(a)3
    64.89(n)1
    66.67(a)1
      V(13627287-13628083)3
    1798501  NM_073975.51  NP_506376.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G025801 NADH dehydrogenase (ubiquinone) flavoprotein 2 57.17(n)
    51.69(a)
      828130  NM_116492.3  NP_567244.1 
    rice
    (Oryza sativa)
    Liliopsida Os.110692 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 71.37(n)    AK061566.1 


    ENSEMBL Gene Tree for NDUFV2 (if available)
    TreeFam Gene Tree for NDUFV2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFV2 gene

    NDUFV2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NDUFV2
    PGOHUM00000259358 PGOHUM00000260441


    (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

    10/703 SNPs in NDUFV2 are shown (see all 703)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs9068071,2,4
    C,F,O,A,Hunknown19081605(-) GCATAG/ACTGTC 2 /A /V mis120Minor allele frequency- A:0.20MN NA NS EA WA CSA EU 6692
    rs1820580911,2
    --9064384(+) CCTCTA/GGAATT 1 -- us2k10--------
    rs1870027191,2
    C--9064481(+) TACACA/GTAGAA 1 -- us2k10--------
    rs1913936871,2
    --9064495(+) AGCATA/CATTCT 1 -- us2k10--------
    rs1381026521,2
    --9064526(+) GAGCAC/TAATTC 1 -- us2k10--------
    rs1181769831,2
    F--9064531(+) TAATTC/GTAACC 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1417126441,2
    --9064610(+) GCCTTC/TTACTT 1 -- us2k10--------
    rs1827442691,2
    --9064705(+) TGTAGC/TAGTGA 1 -- us2k10--------
    rs1501671351,2
    --9064710(+) TAGTGA/CAAGTG 1 -- us2k10--------
    rs1855594681,2
    --9064877(+) TTTAGC/TTGTAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NDUFV2 (9102628 - 9134343 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NDUFV2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2664728CNV Deletion23128226
    nsv909364CNV Loss21882294


    Human Gene Mutation Database (HGMD): NDUFV2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFV2
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFV2

    (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: 600532   
    OMIM disorders: 252010  
    14 diseases for NDUFV2:    About MalaCards
    blepharospasm    bipolar disorder    hypertrophic cardiomyopathy    mitochondrial complex i deficiency
    bipolar i disorder    parkinson's disease    schizophrenia    intrahepatic cholangiocarcinoma
    cholangiocarcinoma    huntington's disease    tuberculosis    cerebritis
    alzheimer's disease    prostatitis

    2 diseases from the University of Copenhagen DISEASES database for NDUFV2:
    Bipolar disorder     Schizophrenia

    NDUFV2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NDUFV2
    Human Genome Epidemiology (HuGE) Navigator: NDUFV2 (20 documents)

    Export disorders for NDUFV2 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 NDUFV2 gene, integrated from 9 sources (see all 45):
    (articles sorted by number of sources associating them with NDUFV2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene. (PubMed id 7607668)1, 3, 9 de Coo R....van Oost B. (1995)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. Genetic variation of the mitochondrial complex I subu nit NDUFV2 and Parkinson's disease. (PubMed id 20971673)1, 4 Nishioka K....Farrer M.J. (2010)
    4. 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)
    5. Case-control association study of 65 candidate genes revealed a possible association of a SNP of HTR5A to be a factor susceptible to bipolar disease in Bulgarian population. (PubMed id 19328558)1, 4 Yosifova A....Nakamura Y. (2009)
    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. Association study on the mitochondrial gene NDUFV2 and bipolar disorder in the Chinese Han population. (PubMed id 19194776)1, 4 Zhang J....He G. (2009)
    8. 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)
    9. Polymorphisms in mitochondrial genes and prostate can cer risk. (PubMed id 19064571)1, 4 Wang L....Thibodeau S.N. (2008)
    10. Further support for association of the mitochondrial complex I subunit gene NDUFV2 with bipolar disorder. (PubMed id 18199248)1, 4 Xu C....Warsh J.J. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
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    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: 4729 HGNC: 7717 AceView: NDUFV2 Ensembl:ENSG00000178127 euGenes: HUgn4729
    ECgene: NDUFV2 Kegg: 4729 H-InvDB: NDUFV2

    (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 NDUFV2 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 NDUFV2 gene:
    Search GeneIP for patents involving NDUFV2

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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