Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

NDUFAF2 Gene

protein-coding   GIFtS: 50
GCID: GC05P060240

NADH dehydrogenase (ubiquinone) complex I, assembly factor...

(Previous names: NDUFA12-like, NADH dehydrogenase (ubiquinone) 1 alpha subcomplex,...)
(Previous symbol: NDUFA12L)
 Explore 15 diseases affiliated with
NDUFAF2 via our new
 Human Malady Compendium 
Biological research products
for NDUFAF2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
NADH Dehydrogenase (Ubiquinone) Complex I, Assembly Factor 21 2     Myc-Induced Mitochondrial Protein2 3
B17.2L1 2 3 5     NDUFA12-Like Protein2 3
MMTN1 2 3 5     NDUFA12-Like1
NDUFA12L1 2 3 5     Mimitin, Mitochondrial2
Mimitin1     B17.2-Like1
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, Assembly Factor 21 2     NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Assembly Factor 23

External Ids:    HGNC: 280861   Entrez Gene: 919422   Ensembl: ENSG000001641827   OMIM: 6096535   UniProtKB: Q8N1833   

Export aliases for NDUFAF2 gene to outside databases

Previous GC identifers: GC05P060279 GC05P057199


(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 NDUFAF2:
NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in
the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner
mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive
encephalopathy resulting from mitochondrial complex I deficiency. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MIMIT_HUMAN, Q8N183
Function: Acts as a molecular chaperone for mitochondrial complex I assembly




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFAF2 gene promoter:
         XBP-1   MEF-2A   HEN1   AREB6   FOXC1   CP1C   aMEF-2   CP1A   NF-Y   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNDUFAF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFAF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFAF2


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

Entrez Gene cytogenetic band: 5q12.1   Ensembl cytogenetic band:  5q12.1   HGNC cytogenetic band: 5q12.1

NDUFAF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFAF2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P060240:  view genomic region     (about GC identifiers)

Start:
60,240,956 bp from pter      End:
60,448,864 bp from pter
Size:
207,909 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MIMIT_HUMAN, Q8N183 (See protein sequence)
Recommended Name: Mimitin, mitochondrial precursor  
Size: 169 amino acids; 19856 Da
Subcellular location: Mitochondrion
Secondary accessions: A8K5I1

Explore the universe of human proteins at neXtProt for NDUFAF2: NX_Q8N183

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N183

  • NDUFAF2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_777549.1  
    ENSEMBL proteins: 
     ENSP00000296597   ENSP00000423377   ENSP00000426149  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate: NDUFAF2
    OriGene Custom Protein Services for NDUFAF2 
    GenScript Custom Purified and Recombinant Proteins Services for NDUFAF2
    Novus Biologicals NDUFAF2 Proteins
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for NDUFAF2
    Browse Proteins at Uscn

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016020membrane IEA--


    NDUFAF2 for ontologies           About GeneDecksing



    NDUFAF2 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies: NDUFAF2
    OriGene Custom Antibody Services for NDUFAF2 
    GenScript Custom Superior Antibodies Services for NDUFAF2
    Search for Antibodies for NDUFAF2 at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibodies for NDUFAF2

    Assay Products for NDUFAF2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NDUFAF2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    NDUFAF2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007763 NADH_UbQ_OxRdtase_17.2kDa_su

    Graphical View of Domain Structure for InterPro Entry Q8N183

    ProtoNet protein and cluster: Q8N183

    UniProtKB/Swiss-Prot: MIMIT_HUMAN, Q8N183
    Similarity: Belongs to the complex I NDUFA12 subunit family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MIMIT_HUMAN, Q8N183
    Function: Acts as a molecular chaperone for mitochondrial complex I assembly
    Induction: By MYC. Direct transcriptional target of MYC

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: NDUFAF2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NDUFAF2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NDUFAF2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NDUFAF2
    OriGene shRNA RFP: NDUFAF2
    OriGene siRNA: NDUFAF2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDUFAF2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NDUFAF2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF2 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: NDUFAF2 (NM_174889)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFAF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFAF2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NDUFAF2
    Search LifeMap BioReagents cell lines for NDUFAF2

    In Situ Assay
    Products:
       

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for NDUFAF2

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008137NADH dehydrogenase (ubiquinone) activity IEA--
    GO:0009055electron carrier activity IEA--


    NDUFAF2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NDUFAF2:
     Decreased viability with pacli 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Validated targets of C-MYC transcriptional activation
    Validated targets of C-MYC transcriptional activation1.00


    1 BioSystems Pathway for NDUFAF2 
        Validated targets of C-MYC transcriptional activation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFAF2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for NDUFAF2 (Q8N1833 ENSP000002965974) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OPTNQ96CV93I2D: score=1 
    MYCENSP000003672074STRING: ENSP00000367207
    MAXENSP000003514904STRING: ENSP00000351490
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 NDUFAF2

    1 HMDB Compound for NDUFAF2    About this table
    CompoundSynonyms CAS #PubMed Ids
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Search CenterWatch for drugs/clinical trials and news about NDUFAF2 / MIMIT 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NDUFAF2 gene: 
    NM_174889.4  

    Unigene Cluster for NDUFAF2:

    NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
    Hs.591757  [show with all ESTs]
    Unigene Representative Sequence: BQ954224
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296597(uc003jsp.4) ENST00000511107(uc003jso.4) ENST00000502658
    ENST00000512623

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: NDUFAF2
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NDUFAF2
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate NDUFAF2
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NDUFAF2
    OriGene shRNA RFP: NDUFAF2
    OriGene siRNA: NDUFAF2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDUFAF2
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF2 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF2
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: NDUFAF2 (NM_174889)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NDUFAF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFAF2 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFAF2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NDUFAF2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFAF2

    Additional cDNA sequence: 

    AB183433.1 AF087990.1 AK026051.1 AK291296.1 BC001753.1 BC022869.1 BC033965.1 BC070357.1 

    10 DOTS entries:

    DT.112525  DT.120989678  DT.92445082  DT.95264639  DT.100027976  DT.100786152  DT.120864541  DT.92445079 
    DT.120864512  DT.92445064 

    24/128 AceView cDNA sequences (see all 128):

    AA807847 F31549 BM670556 BF594138 BQ640571 AA614483 AA953849 BG205957 
    BG190017 AI992026 CA432020 AI685683 AI803230 BM787616 BQ448437 BE541699 
    BG198669 BC001753 CA334847 BG201251 AK026051 AW069418 BM701870 AI344493 

    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

    NDUFAF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See NDUFAF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFAF2

    SOURCE GeneReport for Unigene cluster: Hs.591757

    UniProtKB/Swiss-Prot: MIMIT_HUMAN, Q8N183
    Tissue specificity: Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts

        SABiosciences Custom PCR Arrays for NDUFAF2
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFAF2
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NDUFAF2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFAF2
    In Situ
    Assay Products:
     

     
    Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for NDUFAF2

    (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 NDUFAF2 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufaf21 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 less1, 5 84.33(n)1
    81.55(a)1
      13 (59.63 cM)5
    755971  NM_001127346.11  NP_001120818.11 
     1080525905 
    chicken
    (Gallus gallus)
    Aves NDUFAF21 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 less 69.57(n)
    59.63(a)
      769549  NM_001199230.1  NP_001186159.1 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFAF26
    --
    59(a)
    1 ↔ 1
    2(8823308-8842852)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.256512 Transcribed sequences 76.33(n)    AL917759.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G269656
    NADH:ubiquinone oxidoreductase subunit-17.2
    22(a)
    1 ↔ 1
    4(13539617-13542397)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    expressed protein
    26(a)
    19(a)
    many → 1
    many → 1
    9(19357507-19360585)
    5(26699135-26702170)


    ENSEMBL Gene Tree for NDUFAF2 (if available)
    TreeFam Gene Tree for NDUFAF2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFAF2 gene

    NDUFAF2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NDUFAF2
    PGOHUM00000242539


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2965 NCBI SNPs in NDUFAF2 are shown (see all 2965    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727571821,2
    C,F,--57201395(+) CAAACC/ATTTTG 1 -- int11Minor allele frequency- A:0.03NA 120
    rs77286551,2
    C,--57201729(+) AGCCCC/AAAAAA 1 -- int11Minor allele frequency- A:0.00WA 2
    rs776002461,2
    F,--57202652(+) AGATAT/CTTGGG 1 -- int11Minor allele frequency- C:0.07WA 118
    rs1589171,2
    F,H,--57203065(-) tacatG/Caatca 1 -- int16Minor allele frequency- C:0.01NS EA NA 542
    rs752202431,2
    C,--57203227(+) CCACAT/CGTATA 1 -- int12Minor allele frequency- C:0.08NA 122
    rs1589161,2
    C,F,A,H,--57203256(-) caggtT/Ccaaaa 1 -- int121Minor allele frequency- C:0.11NS EA NA 2640
    rs767801811,2
    F,--57203370(+) TGTTCA/GTTTAC 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1112497111,2
    --57203507(+) AGTGTG/AAGTGC 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs755049871,2
    F,--57203709(+) CTGATT/GTGTAG 1 -- int11Minor allele frequency- G:0.09NA 120
    rs598456851,2
    --57203805(+) AAAACA/GTAATT 1 -- int10--------

    HapMap Linkage Disequilibrium report for NDUFAF2 (60240956 - 60448864 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for NDUFAF2
         5 CNVs: 99152 6409 64216 93071 44214
    Human Gene Mutation Database (HGMD): NDUFAF2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFAF2
    DNA2.0 Custom Variant and Variant Library Synthesis for NDUFAF2

    (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.)
    About This Section

    NDUFAF2 for disorders           About GeneDecksing

    OMIM gene information: 609653   
    OMIM disorders: 252010  256000  
    UniProtKB/Swiss-Prot: MIMIT_HUMAN, Q8N183
  • Defects in NDUFAF2 are a cause of mitochondrial complex I deficiency (MT-C1D) [MIM:252010]. A disorder of the
  • mitochondrial respiratory chain that causes a wide range of clinical disorders, 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

    15 diseases for NDUFAF2:    About MalaCards
    mitochondrial complex i deficiency    leber hereditary optic neuropathy    mitochondrial encephalomyopathy    esophageal squamous cell carcinoma
    squamous cell carcinoma    leigh disease    encephalomyopathy    leukodystrophy
    neuropathy    parkinson's disease    hepatocellular carcinoma    esophagitis
    carcinoma    sarcoma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for NDUFAF2:
    Leigh disease
    Human Genome Epidemiology (HuGE) Navigator: NDUFAF2 (4 documents)

    Export disorders for NDUFAF2 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 NDUFAF2 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with NDUFAF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. (PubMed id 15774466)1, 2, 3, 9 Tsuneoka M.... Koda Y. (2005)
    2. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. (PubMed id 16200211)1, 2, 3 Ogilvie I.... Shoubridge E.A. (2005)
    3. Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. (PubMed id 17383918)1, 3 Vogel R.O....Nijtmans L.G. (2007)
    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. (2004)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    9. Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect. (PubMed id 20571988)1 Herzer M....Sperl W. (2010)
    10. Genome-wide copy number variation analysis in attenti on-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. (PubMed id 20308990)1 Lesch K.P....Ullmann R. (2010)

    (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: 91942 HGNC: 28086 AceView: LOC91942 Ensembl:ENSG00000164182 euGenes: HUgn91942
    ECgene: NDUFAF2 H-InvDB: NDUFAF2

    (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 NDUFAF2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NDUFAF2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NDUFAF2 gene:
    Search GeneIP for patents involving NDUFAF2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     OriGene Antibodies for NDUFAF2   OriGene shRNA RFP for NDUFAF2  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NDUFAF2   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for NDUFAF2  
     OriGene Protein Over-expression Lysate for NDUFAF2   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for NDUFAF2   OriGene 3'-UTR Clone for NDUFAF2  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF2   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NDUFAF2  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NDUFAF2   OriGene Custom Protein Services for NDUFAF2  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat NDUFAF2
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NDUFAF2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFAF2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NDUFAF2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NDUFAF2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFAF2
     GenScript Custom Purified and Recombinant Proteins Services for NDUFAF2 GenScript cDNA clones with any tag delivered in your preferred vector for NDUFAF2
     GenScript Custom Assay Services for NDUFAF2 GenScript Custom Superior Antibodies Services for NDUFAF2
     GenScript Custom overexpressing Cell Line Services for NDUFAF2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in NDUFAF2 promoter
     Search Chromatin IP Primers for NDUFAF2
     RT2 qPCR Primer Assay in human, mouse, rat NDUFAF2
     Search GNC Networks for NDUFAF2
     SABiosciences Custom PCR Arrays for NDUFAF2
     Search Tocris compounds for NDUFAF2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     NDUFAF2 proteins
     Search for Antibodies for NDUFAF2 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for NDUFAF2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for NDUFAF2




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Search LifeMap BioReagents cell lines for NDUFAF2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for NDUFAF2
     Browse SwitchGear 3'UTR luciferase reporter plasmids for NDUFAF2
     SwitchGear Promoter luciferase reporter plasmids for NDUFAF2
     ThermoFisher Antibodies for NDUFAF2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NDUFAF2
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NDUFAF2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4