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

ATPAF2 Gene

protein-coding   GIFtS: 51
GCID: GC17M017881

ATP Synthase Mitochondrial F1 Complex Assembly Factor 2

  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
ATP Synthase Mitochondrial F1 Complex Assembly Factor 21 2
ATP122 3 5
ATP12 Homolog2 3
ATP12p2
MC5DN12

External Ids:    HGNC: 188021   Entrez Gene: 916472   Ensembl: ENSG000001719537   OMIM: 6089185   UniProtKB: Q8N5M13   

Export aliases for ATPAF2 gene to outside databases

Previous GC identifers: GC17M018166 GC17M019290 GC17M017861 GC17M018122 GC17M017863 GC17M017864 GC17M017918 GC17M017675


(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 ATPAF2 Gene:
This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds
specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive
homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome
17. An alternatively spliced transcript variant has been described, but its biological validity has not been
determined. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATPAF2 Gene: 
ATPAF2 (ATP synthase mitochondrial F1 complex assembly factor 2) is a protein-coding gene. Diseases associated with ATPAF2 include atp synthase deficiency, nuclear-encoded, and mitochondrial complex v deficiency. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: ATPF2_HUMAN, Q8N5M1
Function: May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase)

Gene Wiki entry for ATPAF2 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_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATPAF2 gene promoter:
         POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   IRF-1   POU3F2   MZF-1   c-Myb   Pax-4a   NF-Y   CBF(2)   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATPAF2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATPAF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATPAF2


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

ATPAF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATPAF2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M017881:  view genomic region     (about GC identifiers)

Start:
17,880,723 bp from pter      End:
17,942,523 bp from pter
Size:
61,801 bases      Orientation:
minus 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: ATPF2_HUMAN, Q8N5M1 (See protein sequence)
Recommended Name: ATP synthase mitochondrial F1 complex assembly factor 2 precursor  
Size: 289 amino acids; 32772 Da
Subunit: Interacts with ATP5A1
Subcellular location: Mitochondrion (Probable)
Sequence caution: Sequence=AAP34466.1; Type=Frameshift; Positions=87;
Secondary accessions: A6NDE5 A8K2J2 Q6XYC7

Explore the universe of human proteins at neXtProt for ATPAF2: NX_Q8N5M1

Explore proteomics data for ATPAF2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N5M1

  • ATPAF2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATPAF2 Protein Expression
    REFSEQ proteins: NP_663729.1  
    ENSEMBL proteins: 
     ENSP00000462899   ENSP00000463920   ENSP00000463861   ENSP00000417190   ENSP00000466008  
     ENSP00000397198  

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    Cloud-Clone Corp. Proteins for ATPAF2 

    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:0016607nuclear speck IDA--

    ATPAF2 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: 
    MITOAF: Mitochondrial respiratory chain complex assembly factors

    2 InterPro protein domains:
     IPR011419 ATP12_ATPase-F1F0-assembly
     IPR023335 ATPase_assmbl_ATP12_dom

    Graphical View of Domain Structure for InterPro Entry Q8N5M1

    ProtoNet protein and cluster: Q8N5M1

    UniProtKB/Swiss-Prot: ATPF2_HUMAN, Q8N5M1
    Similarity: Belongs to the ATP12 family


    ATPAF2 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: ATPF2_HUMAN, Q8N5M1
    Function: May play a role in the assembly of the F1 component of the mitochondrial ATP synthase (ATPase)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11410595
         
    ATPAF2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATPAF2:
     Increased gamma-H2AX phosphory 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atpaf2):
     mortality/aging  skeleton 

    ATPAF2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATPAF2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATPAF2 
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    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidATPAF2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATPAF2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for ATPAF2 (Q8N5M13 ENSP000004171904) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5A1P257053, ENSP000002820504I2D: score=3 STRING: ENSP00000282050
    ATP5BP065763, ENSP000002620304I2D: score=1 STRING: ENSP00000262030
    IKZF3Q9UKT93I2D: score=1 
    PRDM14Q9GZV83I2D: score=1 
    HDAC6ENSP000003340614STRING: ENSP00000334061
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043461proton-transporting ATP synthase complex assembly NAS14757859

    ATPAF2 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 ATPAF2 (ATPF2)

    Search CenterWatch for drugs/clinical trials and news about ATPAF2 / ATPF2

    (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 ATPAF2 gene: 
    NM_145691.3  

    Unigene Cluster for ATPAF2:

    ATP synthase mitochondrial F1 complex assembly factor 2
    Hs.528889  [show with all ESTs]
    Unigene Representative Sequence: AF070584
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000584205 ENST00000462733(uc002gsd.1) ENST00000585101 ENST00000474627(uc002gse.1)
    ENST00000467560 ENST00000496852 ENST00000581698 ENST00000469327 ENST00000465337
    ENST00000488753 ENST00000444058 ENST00000577586 ENST00000497871(uc010vxf.1)

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ATPAF2:
    hsa-miR-3163
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATPAF2
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    Additional mRNA sequence: 

    AF052185.1 AF070584.1 AK290257.1 AK294487.1 AK296382.1 AY203943.1 BC004114.2 BC032126.2 
    BC128216.1 BC150162.1 

    15 DOTS entries:

    DT.97799331  DT.91683317  DT.115420  DT.120908574  DT.120908575  DT.100728299  DT.95237695  DT.100774697 
    DT.120908607  DT.75102049  DT.95170475  DT.97777981  DT.100743887  DT.40304429  DT.92022121 

    24/181 AceView cDNA sequences (see all 181):

    BQ057465 CN485316 BM853633 CF527980 AW006278 AF070584 CR600553 CA313434 
    BQ691561 AI208992 AA887186 BI905980 BQ949579 BM558942 AF052185 BC004114 
    BM555698 BM561309 BU728990 BG168724 NM_145691 AI968411 BC032126 F05506 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ATPAF2 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14
    SP1:                                      -     -     -           -     -                 -           -     -               
    SP2:                                -     -     -     -           -     -                 -                                 
    SP3:                                                              -     -                 -                                 
    SP4:                                                                                                                        
    SP5:                                -     -     -     -           -     -           -     -     -     -     -     -         


    ECgene alternative splicing isoforms for ATPAF2

    (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

    ATPAF2 expression in normal human tissues (normalized intensities)      ATPAF2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTATGAGCT
    ATPAF2 Expression
    About this image


    ATPAF2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/28 selected tissues (see all 28) fully expand
     
     Epithelium
             cervix, uterine ; squamous epithelial cells   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 3 entries
             colon ; peripheral nerve/ganglion   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See ATPAF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATPAF2

    SOURCE GeneReport for Unigene cluster: Hs.528889

    UniProtKB/Swiss-Prot: ATPF2_HUMAN, Q8N5M1
    Tissue specificity: Widely expressed

        SABiosciences Custom PCR Arrays for ATPAF2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATPAF2

    (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 ATPAF2 gene from 10/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atpaf21 , 5 ATP synthase mitochondrial F1 complex assembly factor more1, 5 86.27(n)1
    87.2(a)1
      11 (37.81 cM)5
    2467821  NM_145427.21  NP_663402.21 
     604006265 
    chicken
    (Gallus gallus)
    Aves ATPAF21 ATP synthase mitochondrial F1 complex assembly factor more 74.85(n)
    77.22(a)
      416511  XM_414815.2  XP_414815.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    76(a)
    70(a)
    many → 1
    many → 1
    AAWZ02039086(4730-9532)
    GL343977.1(40423-53266)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA982826.12   -- 75.93(n)    CA982826.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.47262 Transcribed sequence with weak similarity to protein more 68.83(n)    AL922862.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)k145051 lethal (2) k14505 53.59(n)
    43.46(a)
      35399  NM_136258.1  NP_610102.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y116A8C.271 Protein Y116A8C.27 42.22(n)
    30.42(a)
      191004  NM_070628.5  NP_503029.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATP121 Atp12p 41(n)
    28.32(a)
      853259   NP_012355.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G406601 ATP synthase mitochondrial F1 complex assembly factor more 42.86(n)
    32.9(a)
      834066  NM_123431.3  NP_198882.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g06440001 hypothetical protein 41.89(n)
    27.55(a)
      4344085  NM_001066980.1  NP_001060445.1 


    ENSEMBL Gene Tree for ATPAF2 (if available)
    TreeFam Gene Tree for ATPAF2 (if available)

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

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

    10/414 SNPs in ATPAF2 are shown (see all 414)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0233864
    Mitochondrial complex V deficiency, nuclear 1 (MC5DN1)4--see VAR_0233862 W R mis40--------
    rs1048945541,2
    Cpathogenic117919551(-) CTGAGA/TGGGAT 2 R W mis10--------
    rs1159471121,2
    F--17908866(+) CTGGTG/ATCATC 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1454171381,2
    --17908904(+) GGAACA/TGTTCA 1 -- ds50010--------
    rs1923329361,2
    --17908951(+) GCATGC/TGATCA 1 -- ds50010--------
    rs2014269111,2
    C--17909009(+) GGACAC/TAGGGC 1 -- ds50010--------
    rs782923121,2
    C,F--17909080(+) CAGAAA/CGTAGC 1 -- ds50011Minor allele frequency- C:0.06WA 118
    rs1445976841,2
    --17909086(+) GTAGCA/GCCTGC 1 -- ds50010--------
    rs620735691,2
    C,F--17909167(+) ATGCAC/TATCAG 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1153128441,2
    F--17909218(+) AACTTC/GTATTT 1 -- ds50011Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for ATPAF2 (17880723 - 17942523 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ATPAF2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv510701CNV Loss20534489
    nsv907766CNV Loss21882294
    nsv155OTHER Inversion15895083
    nsv499114OTHER Inversion21111241


    Human Gene Mutation Database (HGMD): ATPAF2
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    (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: 608918   
    OMIM disorders: 604273  
    UniProtKB/Swiss-Prot: ATPF2_HUMAN, Q8N5M1
  • Mitochondrial complex V deficiency, nuclear 1 (MC5DN1) [MIM:604273]: A mitochondrial disorder with
    heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth
    retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and
    cerebrospinal fluid. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for ATPAF2:    About MalaCards
    atp synthase deficiency, nuclear-encoded    mitochondrial complex v deficiency    smith magenis syndrome    mitochondrial disorders
    lactic acidosis    hypotonia    dementia


    ATPAF2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATPAF2
    Human Genome Epidemiology (HuGE) Navigator: ATPAF2 (2 documents)

    Export disorders for ATPAF2 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 ATPAF2 gene, integrated from 9 sources (see all 20):
    (articles sorted by number of sources associating them with ATPAF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Atp11p and Atp12p are assembly factors for the F(1)-ATPase in human mitochondria. (PubMed id 11410595)1, 2, 3 Wang Z.-G.... Ackerman S.H. (2001)
    2. Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk. (PubMed id 20167577)1, 4 Reynolds C.A....Prince J.A. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12. (PubMed id 14757859)1, 2 De Meirleir L.... Van Coster R. (2004)
    5. 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)
    6. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PubMed id 11997338)1, 3 Bi W....Lupski J.R. (2002)
    7. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    8. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    9. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    10. Defining the pathogenesis of the human Atp12p W94R mu tation using a Saccharomyces cerevisiae yeast model. (PubMed id 19933271)1 Meulemans A....Ackerman S.H. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      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: 91647 HGNC: 18802 AceView: ATPAF2 Ensembl:ENSG00000171953 euGenes: HUgn91647
    ECgene: ATPAF2 H-InvDB: ATPAF2

    (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 ATPAF2 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 ATPAF2 gene:
    Search GeneIP for patents involving ATPAF2

    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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