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

NDUFA4L2 Gene

protein-coding   GIFtS: 51
GCID: GC12M057629

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like...

 Explore 2 diseases affiliated with
NDUFA4L2 via our new
 Human Malady Compendium 
Biological research products
for NDUFA4L2
    

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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 4-Like 21 2
NUOMS1 2 3
NADH-Ubiquinone Oxidoreductase MLRQ Subunit Homolog2 3
FLJ261181
NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 4-Like 22
NADH:Ubiquinone Oxidoreductase MLRQ Subunit Homolog2

External Ids:    HGNC: 298361   Entrez Gene: 569012   Ensembl: ENSG000001856337   UniProtKB: Q9NRX33   
ORGUL members:         
NONCODE:n341933    

Export aliases for NDUFA4L2 gene to outside databases

Previous GC identifers: GC12M055915 GC12M054667


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

  --

(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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NDUFA4L2 gene promoter:
         Nkx3-1   Spz1   HOXA3   Nkx3-1 v1   CUTL1   GATA-1   Nkx3-1 v2   AREB6   HOXA5   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): NDUFA4L2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NDUFA4L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NDUFA4L2


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

Entrez Gene cytogenetic band: 12q13.3   Ensembl cytogenetic band:  12q13.3   HGNC cytogenetic band: 12q13.3

NDUFA4L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NDUFA4L2 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M057629:  view genomic region     (about GC identifiers)

Start:
57,628,686 bp from pter      End:
57,634,545 bp from pter
Size:
5,860 bases      Orientation:
minus 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: NUA4L_HUMAN, Q9NRX3 (See protein sequence)
Recommended Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 4-like 2  
Size: 87 amino acids; 9966 Da
Secondary accessions: Q6IAH9

Explore the universe of human proteins at neXtProt for NDUFA4L2: NX_Q9NRX3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NRX3

  • NDUFA4L2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_064527.1  
    ENSEMBL proteins: 
     ENSP00000450664   ENSP00000452193   ENSP00000377411  

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

    NDUFA4L2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR010530 B12D

    Graphical View of Domain Structure for InterPro Entry Q9NRX3

    ProtoNet protein and cluster: Q9NRX3

    UniProtKB/Swiss-Prot: NUA4L_HUMAN, Q9NRX3
    Similarity: Belongs to the complex I NDUFA4 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

    miRNA
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    hsa-miR-640 hsa-miR-3184 hsa-miR-1321 hsa-miR-1271 hsa-miR-574-3p hsa-miR-765 hsa-miR-3190 hsa-miR-423-5p
    SwitchGear 3'UTR luciferase reporter plasmidNDUFA4L2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NDUFA4L2

    4 GenomeRNAi human phenotypes for NDUFA4L2:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e  Decreased viability 


    (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
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Oxidative phosphorylation0.63
    Alzheimer's disease0.43
    Parkinson's disease0.61
    Huntington's disease0.40
    Oxidative phosphorylation0.52
    2Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for NDUFA4L2 
        Oxidative phosphorylation


    5         Kegg Pathways  (Kegg details for NDUFA4L2):
        Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease
    Huntington's disease


    NDUFA4L2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NDUFA4L2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    5/22 Interacting proteins for NDUFA4L2 (Q9NRX32, 3 ENSP000003774114) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF3CQ996132, 3, ENSP000003326044MINT-65623 I2D: score=4 STRING: ENSP00000332604
    ANXA9O760272, 3, ENSP000003579434MINT-65616 I2D: score=5 STRING: ENSP00000357943
    C7orf55-LUC7L2Q9Y3832, 3MINT-65626 I2D: score=5 
    KCNA4P224592, 3, ENSP000003285114MINT-65617 I2D: score=5 STRING: ENSP00000328511
    LUC7L2Q9Y3832, 3MINT-65626 I2D: score=5 
    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 NDUFA4L2

    8 HMDB Compounds for NDUFA4L2    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 NDUFA4L2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about NDUFA4L2 / NUA4L 

    (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 NDUFA4L2 gene: 
    NM_020142.3  

    Unigene Cluster for NDUFA4L2:

    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2
    Hs.744062  [show with all ESTs]
    Unigene Representative Sequence: AK094275
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000554503 ENST00000555173(uc010srk.2) ENST00000556732 ENST00000554688
    ENST00000556234 ENST00000557276 ENST00000393825(uc001sno.3)

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    hsa-miR-640 hsa-miR-3184 hsa-miR-1321 hsa-miR-1271 hsa-miR-574-3p hsa-miR-765 hsa-miR-3190 hsa-miR-423-5p
    SwitchGear 3'UTR luciferase reporter plasmidNDUFA4L2 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NDUFA4L2
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    Additional cDNA sequence: 

    AF164796.1 AK094275.1 AK129629.1 BC011910.2 CR457176.1 

    11 DOTS entries:

    DT.450338  DT.100859132  DT.99949983  DT.100859133  DT.100848237  DT.100870151  DT.97847286  DT.92426842 
    DT.99981974  DT.307323  DT.91784339 

    24/232 AceView cDNA sequences (see all 232):

    BQ181963 BI834695 BM666906 BI834450 BI835182 AI830828 BM695018 CA415479 
    BG676080 AA934090 NM_020142 BM668781 CA447133 BM709415 AI222888 CA448352 
    BI829362 BG676323 BM790758 BM700373 AI183607 BG676000 BM700128 BQ447435 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA4L2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d · 3e ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c
    SP1:                                                  -     -                           
    SP2:                                                  -     -                           
    SP3:                                                        -                           
    SP4:                                                  -     -                           
    SP5:                                                                                    


    ECgene alternative splicing isoforms for NDUFA4L2

    (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

    NDUFA4L2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAGCCACAG

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

    About this image

    NDUFA4L2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryAntral FollicleCumulus CellsOvary
    OvaryPrimary FollicleGranulosa CellsOvary
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/13 LifeMap Cells (see all 13
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor F15 (Embryonic Progenitor Cell)
    PureStem™ progenitor SK17 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)

    See NDUFA4L2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NDUFA4L2

    SOURCE GeneReport for Unigene cluster: Hs.744062
        SABiosciences Custom PCR Arrays for NDUFA4L2
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    In Situ
    Assay Products:
     

     
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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 animals.

    Orthologs for NDUFA4L2 gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ndufa4l21 , 5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, more1, 5 88.89(n)1
    94.25(a)1
      10 (74.51 cM)5
    4077901  NM_001098789.11  NP_001092259.11 
     1275149395 
    lizard
    (Anolis carolinensis)
    Reptilia NDUFA4L26
    --
    92(a)
    1 ↔ 1
    GL343212.1(1713800-1716389)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1000030661 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex more 68.02(n)
    64.86(a)
      100003066  XM_001342673.3  XP_001342709.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG322306
    --
    36(a)
    1 → many
    3L(23332426-23339038)


    ENSEMBL Gene Tree for NDUFA4L2 (if available)
    TreeFam Gene Tree for NDUFA4L2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NDUFA4L2 gene
    NDUFA42  
    3 SIMAP similar genes for NDUFA4L2 using alignment to 2 protein entries:     NUA4L_HUMAN (see all proteins):
    NDUFA4    NMES1    C15orf48

    NDUFA4L2 for paralogs           About GeneDecksing



    (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

    10/91 NCBI SNPs in NDUFA4L2 are shown (see all 91    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1453267201,2
    --57629222(+) AACCCA/GGCCTG 1 -- ut310--------
    rs1913832361,2
    --57629255(+) TGGCCA/GGAGTG 1 -- ut310--------
    rs2003596901,2
    --57629331(+) CACTGA/GCAGCC 1 -- ut310--------
    rs1112616741,2
    C--57629362(+) GCCGGA/C/TCCTTC 3 D G V mis11CSA 1
    rs1829086101,2
    --57629395(+) AAACTA/GCAAGG 2 A V mis10--------
    rs1997804071,2
    --57629409(+) TAAGAC/GGAGAG 1 -- int10--------
    rs2015288981,2
    --57629497(+) TAAGAA/GGATGG 1 -- int10--------
    rs2007135341,2
    --57629499(+) AGAGGA/TTGGGG 1 -- int10--------
    rs1995053101,2
    --57629523(+) CCATCA/GAGAGG 1 -- int10--------
    rs582124691,2
    C,--57629526(+) TCGAGA/CGGTAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for NDUFA4L2 (57628686 - 57634545 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NDUFA4L2: --

    SABiosciences Cancer Mutation PCR Assays
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    (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

    NDUFA4L2 for disorders           About GeneDecksing

    2 diseases for NDUFA4L2:    About MalaCards
    huntington's disease    parkinson's disease


    Export disorders for NDUFA4L2 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 NDUFA4L2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with NDUFA4L2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning. (PubMed id 10931946)1, 2 Hu R.-M.... Chen J.-L. (2000)
    3. How many drug targets are there? (PubMed id 17139284)7 Overington J.P....Hopkins A.L. (2006)
    4. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    5. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 56901 HGNC: 29836 AceView: LOC56901 Ensembl:ENSG00000185633 euGenes: HUgn56901
    ECgene: NDUFA4L2 Kegg: 56901 H-InvDB: NDUFA4L2

    (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 NDUFA4L2 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 NDUFA4L2 gene:
    Search GeneIP for patents involving NDUFA4L2

    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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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