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NDUFA2 Gene

protein-coding   GIFtS: 61
GCID: GC05M140005

NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2, 8kDa

(Previous names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2 (8kD,...)
  See NDUFA2-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) 1 Alpha Subcomplex, 2, 8kDa1 2     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 22
Complex I B8 Subunit1 2     NADH-Ubiquinone Oxidoreductase Subunit CI-B82
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2 (8kD, B8)1     CI-B83
B82     Complex I-B83
CD142     NADH-Ubiquinone Oxidoreductase B8 Subunit3
CIB82     

External Ids:    HGNC: 76851   Entrez Gene: 46952   Ensembl: ENSG000001314957   OMIM: 6021375   UniProtKB: O436783   
ORGUL members:         

Export aliases for NDUFA2 gene to outside databases

Previous GC identifers: GC05M139841 GC05M140607 GC05M140008 GC05M140053 GC05M135170


(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 NDUFA2 Gene:
The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase
(complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial
membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes.
Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder.
Alternative splicing results in multiple transcript variants.(provided by RefSeq, May 2010)

GeneCards Summary for NDUFA2 Gene:
NDUFA2 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa) is a protein-coding gene. Diseases associated with NDUFA2 include leigh syndrome due to mitochondrial complex i deficiency, and mitochondrial dna deletion syndromes. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot: NDUA2_HUMAN, O43678
Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the
respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone

Gene Wiki entry for NDUFA2 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_000005.9  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the NDUFA2 gene promoter:
         CREB   ATF-2   deltaCREB   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFA2 promoter sequence
   Search Chromatin IP Primers for NDUFA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NDUFA2


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

Entrez Gene cytogenetic band: 5q31.2   Ensembl cytogenetic band:  5q31.3   HGNC cytogenetic band: 5q31.2

NDUFA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M140005:  view genomic region     (about GC identifiers)

Start:
140,018,325 bp from pter      End:
140,027,370 bp from pter
Size:
9,046 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NDUA2_HUMAN, O43678 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2  
Size: 99 amino acids; 10922 Da
Subunit: Complex I is composed of 45 different subunits
1 PDB 3D structure from and Proteopedia for NDUFA2:
1S3A (3D)    
Secondary accessions: D6RJD6 Q6IAY8
Alternative splicing: 2 isoforms:  O43678-1   O43678-2   

Explore the universe of human proteins at neXtProt for NDUFA2: NX_O43678

Explore proteomics data for NDUFA2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NDUFA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001171941.1  NP_002479.1  

    ENSEMBL proteins: 
     ENSP00000252102   ENSP00000427220  
    Reactome Protein details: O43678

    NDUFA2 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:
     IPR012336 Thioredoxin-like_fold
     IPR016464 NADH_Ub_cplx-1_asu_su-2
     IPR007741 Ribosome/NADH_DH

    Graphical View of Domain Structure for InterPro Entry O43678

    ProtoNet protein and cluster: O43678

    1 Blocks protein domain: IPB007741 Mitochondrial ribosome


    Find genes that share domains with NDUFA2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: NDUA2_HUMAN, O43678
    Function: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that
    is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the
    respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone

         Genatlas biochemistry entry for NDUFA2:
    NADH ubiquinone oxidoreductase (Q reductase),8kDa,component alpha 2,hydrophobic fraction of the complex I
    multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity NAS9878551
         
    Find genes that share ontologies with NDUFA2           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NDUFA2

    miRNA
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    miRTarBase miRNAs that target NDUFA2:
    hsa-mir-100-5p (MIRT048578), hsa-mir-186-5p (MIRT045264), hsa-mir-99a-5p (MIRT048675)

    Block miRNA regulation of human, mouse, rat NDUFA2 using miScript Target Protectors
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NDUA2_HUMAN, O43678: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005747mitochondrial respiratory chain complex I NAS9878551
    GO:0031966mitochondrial membrane IDA17209039

    Find genes that share ontologies with NDUFA2           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 NDUFA2 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
    4Metformin Pathway, Pharmacodynamic
    Metformin Pathway, Pharmacodynamic


    Find genes that share SuperPaths with NDUFA2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NDUFA2 (see all 8)
        iNOS Signaling
    LPS Stimulated MAPK Signaling
    MIF Regulation of Innate Immune Cells
    Toll-Like Receptors Pathway
    IL-10 Pathway

    2 BioSystems Pathways for NDUFA2
        Oxidative phosphorylation
    Electron Transport Chain

    1 Reactome Pathway for NDUFA2
        Respiratory electron transport

    1 PharmGKB Pathway for NDUFA2
        Metformin Pathway, Pharmacodynamic

    Selected Kegg Pathways  (Kegg details for NDUFA2) (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 NDUFA2: 
              Mitochondrial Energy Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NDUFA2

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

    Selected Interacting proteins for NDUFA2 (O436782, 3 ENSP000002521024) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HMP19Q9Y3282, 3, ENSP000003077224MINT-8263588 I2D: score=2 STRING: ENSP00000307722
    MT-ND1P038863, ENSP000003546874I2D: score=1 STRING: ENSP00000354687
    MT-ND4P039053, ENSP000003549614I2D: score=1 STRING: ENSP00000354961
    NDUFA5Q167183, ENSP000003479884I2D: score=1 STRING: ENSP00000347988
    NDUFB3O436763, ENSP000002378894I2D: score=1 STRING: ENSP00000237889
    About this table

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

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

    Find genes that share ontologies with NDUFA2           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
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    Browse Tocris compounds for NDUFA2 (NDUA2)

    8 HMDB Compounds for NDUFA2    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 NDUFA2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NDUFA2 gene (2 alternative transcripts): 
    NM_001185012.1  NM_002488.4  

    Unigene Cluster for NDUFA2:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
    Hs.75914  [show with all ESTs]
    Unigene Representative Sequence: BF686835
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000510680 ENST00000252102(uc021yem.1 uc003lgp.3) ENST00000512088
    ENST00000502960
    miRNA
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    Additional mRNA sequence: 

    AF047185.1 AF077029.1 BC003674.1 CR457016.1 NR_033697.1 

    15 DOTS entries:

    DT.454420  DT.100839133  DT.95170442  DT.120833481  DT.92459893  DT.120833483  DT.95170441  DT.75193702 
    DT.100839139  DT.95170437  DT.100758886  DT.101955157  DT.120833427  DT.91979006  DT.100839136 

    1 AceView cDNA sequence:

    W96226 

    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™, 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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    NDUFA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NDUFA2 Expression
    About this image


    NDUFA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Thalamus
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad
             Primary Oocyte Primary Follicle
     
     Eye (Sensory Organs)
             Lens
    NDUFA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NDUFA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.75914
        Pathway & Disease-focused RT2 Profiler PCR Array including NDUFA2: 
              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 NDUFA2

    (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 NDUFA2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa21 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 83.5(n)1
    85.86(a)1
      18 (19.46 cM)5
    179911  NM_010885.51  NP_035015.21 
     367423325 
    chicken
    (Gallus gallus)
    Aves NDUFA21 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 71.87(n)
    66.67(a)
      768860  XM_001232015.3  XP_001232016.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA26
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex...
    72(a)
    1 ↔ 1
    4(77812733-77816096)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ndufa21 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 69.79(n)
    73.96(a)
      100124807  NM_001102777.1  NP_001096247.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ndufa21 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more 68.71(n)
    67.35(a)
      554125  NM_001024420.1  NP_001019591.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG154341 CG15434 57.38(n)
    50.63(a)
      50178  NM_144084.3  NP_652341.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y63D3A.76
    Protein Y63D3A.7 (Y63D3A.7) mRNA, complete cds
    49(a)
    1 ↔ 1
    I(14113636-14114091) WBGene00013406
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G478901 AT5G47890 51.61(n)
    51.61(a)
      834840  NM_124163.4  NP_199600.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g03105001 Os04g0310500 62.08(n)
    47.5(a)
      4335450  NM_001058970.2  NP_001052435.2 


    ENSEMBL Gene Tree for NDUFA2 (if available)
    TreeFam Gene Tree for NDUFA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NDUFA2 gene

    Find genes that share paralogs with NDUFA2           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for NDUFA2
    PGOHUM00000239570


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NDUFA2 (see all 155)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0361744
    A breast cancer sample4--see VAR_0361742 D N mis40--------
    rs7023981,2
    C,F,A--140301129(+) GGAGTA/GGGCTG 3 -- ds500112Minor allele frequency- G:0.48EA MN WA NA CSA 2051
    rs3723676091,2
    F,H--140301129(+) GGAGT-/A/GGGCTG 3 -- ds50019NS EA NA 776
    rs2021995631,2
    --140301267(+) GAAGAC/GGCCCA 3 -- ds50010--------
    rs1810903891,2
    C--140301344(+) ACTCAC/TTCCCC 3 -- ds50010--------
    rs1851388181,2
    --140301422(+) ATGTTC/TTCTGC 3 -- ds50010--------
    rs1895569931,2
    --140301553(+) GCCCCC/TCCGCC 3 -- ds50010--------
    rs1840643351,2
    --140301599(+) GATGAA/GACAGA 3 -- ut31 nc-transcript-variant0--------
    rs1503444021,2
    --140301665(+) GTAGAA/GGGTAG 3 -- ut31 nc-transcript-variant0--------
    rs603134571,2
    C--140301718(+) CTTTAT/CGAGGA 3 -- ut31 nc-transcript-variant2Minor allele frequency- C:0.03WA 120

    HapMap Linkage Disequilibrium report for NDUFA2 (140018325 - 140027370 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NDUFA2: --
    Human Gene Mutation Database (HGMD): NDUFA2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NDUFA2
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFA2

    (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: 602137   
    OMIM disorders: 256000  
    7 diseases for NDUFA2:    
    About MalaCards
    leigh syndrome due to mitochondrial complex i deficiency    mitochondrial dna deletion syndromes    leigh syndrome with leukodystrophy    mitochondrial dna-associated leigh syndrome and narp
    mitochondrial complex i deficiency    mitochondrial disorders    leigh disease

    1 disease from the University of Copenhagen DISEASES database for NDUFA2:
    Leigh disease

    Find genes that share disorders with NDUFA2           About GenesLikeMe

    Genetic Association Database (GAD): NDUFA2
    Human Genome Epidemiology (HuGE) Navigator: NDUFA2 (2 documents)

    Export disorders for NDUFA2 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 NDUFA2 gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with NDUFA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PubMed id 9425316)1, 2, 3 Ton C.... Liew C.-C. (Biochem. Biophys. Res. Commun. 1997)
    2. The oxidized subunit B8 from human complex I adopts a thioredoxin fold. (PubMed id 15341729)1, 2, 9 Brockmann C.... Oschkinat H. (Structure 2004)
    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. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PubMed id 12611891)1, 2 Murray J.... Capaldi R.A. (J. Biol. Chem. 2003)
    6. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (Genome Res. 2000)
    7. Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. (PubMed id 9763676)1, 3 Emahazion T. and Brookes A.J. (Cytogenet. Cell Genet. 1998)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Proteomic analysis of I+4I^1 integrin adhesion complexes reveals I+-subunit-dependent protein recruitment. (PubMed id 22623428)1 Byron A....Humphries M.J. (Proteomics 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (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: 4695 HGNC: 7685 AceView: NDUFA2.2 Ensembl:ENSG00000131495 euGenes: HUgn4695
    ECgene: NDUFA2 Kegg: 4695 H-InvDB: NDUFA2

    (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 NDUFA2 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 NDUFA2 gene:
    Search GeneIP for patents involving NDUFA2

    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, eBioscience, antibodies-online, 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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