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

ATG5 Gene

protein-coding   GIFtS: 67
GCID: GC06M106632

Autophagy Related 5

(Previous names: APG5 (autophagy 5, S. cerevisiae)-like, APG5 autophagy 5-like...)
(Previous symbol: APG5L)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Autophagy Related 51 2     APG52
APG5L1 2 3 5     APG5-LIKE2
Apoptosis-Specific Protein2 3     Apoptosis Specific Protein2
ASP2 3     ATG5 Autophagy Related 5 Homolog2
APG5 (Autophagy 5, S. Cerevisiae)-Like1     Autophagy Protein 52
APG5 Autophagy 5-Like (S. Cerevisiae)1     hAPG52
ATG5 Autophagy Related 5 Homolog (S. Cerevisiae)1     APG5-like3

External Ids:    HGNC: 5891   Entrez Gene: 94742   Ensembl: ENSG000000576637   OMIM: 6042615   UniProtKB: Q9H1Y03   

Export aliases for ATG5 gene to outside databases

Previous GC identifers: GC06M106740 GC06M104079


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

GeneCards Summary for ATG5 Gene: 
ATG5 (autophagy related 5) is a protein-coding gene. Diseases associated with ATG5 include inclusion body myositis, and shigellosis, and among its related super-pathways are RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways and Immune System. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: ATG5_HUMAN, Q9H1Y0
Function: Required for autophagy. Conjugates to ATG12 and associates with isolation membrane to form cup-shaped
isolation membrane and autophagosome. The conjugate detaches from the membrane immediately before or after
autophagosome formation is completed (By similarity)
Function: May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its
expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity

Gene Wiki entry for ATG5 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_000006.11  NT_025741.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATG5 gene promoter:
         SRF   p53   SRF (504 AA)   HNF-3beta   POU3F2   RORalpha2   FOXJ2 (long isoform)   FOXJ2   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATG5 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATG5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATG5


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

Entrez Gene cytogenetic band: 6q21   Ensembl cytogenetic band:  6q21   HGNC cytogenetic band: 6q21

ATG5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATG5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M106632:  view genomic region     (about GC identifiers)

Start:
106,632,351 bp from pter      End:
106,773,695 bp from pter
Size:
141,345 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: ATG5_HUMAN, Q9H1Y0 (See protein sequence)
Recommended Name: Autophagy protein 5  
Size: 275 amino acids; 32447 Da
Subunit: The ATG5-ATG12 conjugate forms a complex with several units of ATG16. Interacts with TECPR1; the
interaction is direct and does not take place when ATG16 is associated with the ATG5-ATG12 conjugate
Subcellular location: Cytoplasm. Note=Colocalizes with nonmuscle actin
2 PDB 3D structures from and Proteopedia for ATG5:
4GDK (3D)        4GDL (3D)    
Secondary accessions: O60875 Q5JVR2 Q68DI4 Q9H2B8 Q9HCZ7
Alternative splicing: 2 isoforms:  Q9H1Y0-1   Q9H1Y0-2   

Explore the universe of human proteins at neXtProt for ATG5: NX_Q9H1Y0

Explore proteomics data for ATG5 at MOPED 

Post-translational modifications:

  • UniProtKB: Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H1Y0

  • ATG5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATG5 Protein Expression
    REFSEQ proteins: NP_004840.1  
    ENSEMBL proteins: 
     ENSP00000343313   ENSP00000358072   ENSP00000358066   ENSP00000353884  
    Reactome Protein details: Q9H1Y0
    Human Recombinant Protein Products for ATG5: 
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    Novus Biologicals ATG5 Proteins
    Novus Biologicals ATG5 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ATG5
    Cloud-Clone Corp. Proteins for ATG5 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005776autophagic vacuole IDA15292400
    GO:0034045pre-autophagosomal structure membrane ISS--

    ATG5 for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for ATG5 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR007239 Atg5

    Graphical View of Domain Structure for InterPro Entry Q9H1Y0

    ProtoNet protein and cluster: Q9H1Y0

    1 Blocks protein domain: IPB007239 Autophagy protein Apg5

    UniProtKB/Swiss-Prot: ATG5_HUMAN, Q9H1Y0
    Similarity: Belongs to the ATG5 family


    ATG5 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: ATG5_HUMAN, Q9H1Y0
    Function: Required for autophagy. Conjugates to ATG12 and associates with isolation membrane to form cup-shaped
    isolation membrane and autophagosome. The conjugate detaches from the membrane immediately before or after
    autophagosome formation is completed (By similarity)
    Function: May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its
    expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity
    Induction: By apoptotic stimuli

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11096062
         
    ATG5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ATG5:
     Synthetic lethal with Ras 

         15/18 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Atg5) (see all 18):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     liver/biliary system  mortality/aging  muscle  nervous system  normal 

    ATG5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atg5tm1Nmz for ATG5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATG5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ATG5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATG5 
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    hsa-miR-30c hsa-miR-299-5p hsa-miR-3607-3p hsa-miR-216b hsa-miR-30d hsa-miR-4282 hsa-miR-3647-3p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidATG5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG5


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATG5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways0.52
    Negative regulators of RIG-I/MDA5 signaling0.49
    RIG-I-like receptor signaling pathway0.52
    2Immune System
    Immune System0.56
    Innate Immune System0.50
    3Senescence and Autophagy
    Senescence and Autophagy
    4Regulation of autophagy
    Regulation of autophagy
    5Shigellosis
    Shigellosis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ATG5
        Senescence and Autophagy


    4        Reactome Pathways for ATG5
        RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways
    Negative regulators of RIG-I/MDA5 signaling
    Immune System
    Innate Immune System


    3         Kegg Pathways  (Kegg details for ATG5):
        Regulation of autophagy
    RIG-I-like receptor signaling pathway
    Shigellosis


    ATG5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATG5

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

    5/479 Interacting proteins for ATG5 (Q9H1Y01, 2, 3 ENSP000003433134) via UniProtKB, MINT, STRING, and/or I2D (see all 479)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    ENSG00000232804P081073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly ISS--
    GO:0001974blood vessel remodeling IEA--
    GO:0002739regulation of cytokine secretion involved in immune response IEA--
    GO:0006914autophagy ISS--
    GO:0006915apoptotic process IEA--

    ATG5 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

    ATG5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATG5

    3 Novoseek inferred chemical compound relationships for ATG5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    3-methyladenine 88.9 2 15657430 (1), 19115482 (1)
    wortmannin 35.4 1 19115482 (1)
    cycloheximide 24.7 1 7796880 (1)

    Search CenterWatch for drugs/clinical trials and news about ATG5

    (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 ATG5 gene: 
    NM_004849.2  

    Unigene Cluster for ATG5:

    Autophagy related 5
    Hs.486063  [show with all ESTs]
    Unigene Representative Sequence: Y11588
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000475645 ENST00000343245 ENST00000369076(uc003prf.3 uc010kdb.3)
    ENST00000369070(uc003prg.3 uc010kdc.3) ENST00000476518 ENST00000360666


    miRNA
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    8/13 QIAGEN miScript miRNA Assays for microRNAs that regulate ATG5 (see all 13):
    hsa-miR-30c hsa-miR-299-5p hsa-miR-3607-3p hsa-miR-216b hsa-miR-30d hsa-miR-4282 hsa-miR-3647-3p hsa-miR-30a
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    Additional mRNA sequence: 

    AF293841.1 AK001899.1 AK299577.1 AK315800.1 BC002699.2 BC093011.1 BX537904.1 CR749386.1 
    EU283338.1 EU283339.1 JQ918353.1 JQ918354.1 JQ924061.1 Y11588.1 

    13 DOTS entries:

    DT.316534  DT.86852491  DT.100773368  DT.100773367  DT.100773370  DT.316536  DT.95184690  DT.102823419 
    DT.91844873  DT.100045110  DT.121325660  DT.40131866  DT.95259264 

    24/214 AceView cDNA sequences (see all 214):

    BC002699 AW466987 T63304 AI126884 AA251276 AI420472 AI494014 AI278043 
    BQ049839 AA558459 BP357784 BM128085 CB305851 AI160403 CR601228 BF589416 
    BF060669 AA804539 BF001735 AW519320 AI990740 BI764912 AI017430 AA235627 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATG5    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c
    SP1:                    -                                                               
    SP2:                                                                                    
    SP3:                                -                                                   
    SP4:                    -           -                                                   
    SP5:                    -           -     -     -                                       


    ECgene alternative splicing isoforms for ATG5

    (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

    ATG5 expression in normal human tissues (normalized intensities)      ATG5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ATG5 Expression
    About this image


    ATG5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Ovary (Reproductive System)
             oocyte   
     
     Eye (Sensory Organs)
             Retina

    See ATG5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATG5

    SOURCE GeneReport for Unigene cluster: Hs.486063

    UniProtKB/Swiss-Prot: ATG5_HUMAN, Q9H1Y0
    Tissue specificity: Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the
    protein is dramatically highly expressed in apoptotic cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including ATG5: 
              Antiviral Response in human mouse rat
              Autophagy in human mouse rat
              Stress & Toxicity PathwayFinder in human mouse rat
              Cell Death PathwayFinder in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG5

    (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 ATG5 gene from 10/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atg51 , 5 autophagy-related 5 (yeast)5
    autophagy related 51
    91.76(n)1
    96.73(a)1
      10 (23.24 cM)5
    117931  NM_053069.51  NP_444299.11 
     442683585 
    chicken
    (Gallus gallus)
    Aves ATG51 ATG5 autophagy related 5 homolog (S. cerevisiae) 84.73(n)
    89.82(a)
      421784  NM_001006409.1  NP_001006409.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATG56
    Uncharacterized protein
    90(a)
    1 ↔ 1
    1(189204532-189241708)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.237302 Xenopus laevis transcribed sequence with moderate similarity more 79.15(n)    BI477654.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.126862 Danio rerio clone RK112A2A05 APG5 autophagy 5-like more 74(n)    AY398310.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atg51 Autophagy-specific gene 5 54.58(n)
    50(a)
      31666  NM_132162.3  NP_572390.1 
    worm
    (Caenorhabditis elegans)
    Secernentea atg-51 Protein ATG-5 48.29(n)
    36.12(a)
      171735  NM_058484.4  NP_490885.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ATG5(YPL149W)4 Conserved protein involved in autophagy and the Cvt more   --   16(271310-272194) 855954  NP_015176.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons APG51 autophagy protein 5 47.17(n)
    35.09(a)
      831594  NM_121735.4  NP_197231.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g01178001 hypothetical protein 44.83(n)
    35.06(a)
      4328092  NM_001052225.1  NP_001045690.1 


    ENSEMBL Gene Tree for ATG5 (if available)
    TreeFam Gene Tree for ATG5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATG5 gene
    1 SIMAP similar gene for ATG5 using alignment to 4 protein entries:     ATG5_HUMAN (see all proteins):
    DKFZp686F0183

    ATG5 for paralogs           About GeneDecksing



    (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

    10/2562 SNPs in ATG5 are shown (see all 2562)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362434
    A colorectal cancer sample4--see VAR_0362432 K M mis40--------
    rs104845751,2
    C,F,H--106631860(+) AAATCC/TTGGTG 1 -- ds500133Minor allele frequency- T:0.14NS EA NA WA CSA 3080
    rs1917187251,2
    --106631952(+) CAAAAA/GTATAA 1 -- ds50010--------
    rs579014431,2
    C--106631967(+) TTTTT-/TATCCT 1 -- ds50010--------
    rs782005521,2
    C--106631967(+) GTGGAT/CTTTTT 1 -- ds50014Minor allele frequency- C:0.18NA WA EA 360
    rs1511653281,2
    --106631996(+) ATATTA/GCTATT 1 -- ds50010--------
    rs1390548231,2
    --106631997(+) TATTGA/CTATTT 1 -- ds50010--------
    rs750160101,2
    C,F--106632045(+) TCCATG/TGTCAT 1 -- ds50011Minor allele frequency- T:0.05WA 118
    rs1439742061,2
    --106632195(+) TCAAAC/TAGGCA 1 -- ds50010--------
    rs1842682201,2
    --106632260(+) TATTTC/TTCCAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATG5 (106632351 - 106773695 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATG5:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677509CNV Deletion23128226
    esv2657202CNV Deletion23128226
    esv2615044CNV Insertion19546169
    esv24511CNV Loss19812545
    dgv391n21CNV Gain19592680
    esv26469CNV Gain19812545


    Human Gene Mutation Database (HGMD): ATG5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ATG5
    DNA2.0 Custom Variant and Variant Library Synthesis for ATG5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604261    OMIM disorders: --

    20/29 diseases for ATG5 (see all 29):    About MalaCards
    inclusion body myositis    shigellosis    myositis    malignant glioma
    myelodysplastic syndromes    huntington's disease    acute myeloid leukemia    systemic lupus erythematosus
    lupus erythematosus    multiple sclerosis    myeloid leukemia    hepatitis c
    asthma    hypoxia    rheumatoid arthritis    neuroblastoma
    arthritis    colorectal cancer    retinitis    squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for ATG5:
    Cancer

    ATG5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for ATG5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    shock 11.2 2 9596416 (1), 7796880 (1)
    necrosis 0 1 20431342 (1)

    Genetic Association Database (GAD): ATG5
    Human Genome Epidemiology (HuGE) Navigator: ATG5 (8 documents)

    Export disorders for ATG5 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 ATG5 gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with ATG5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homology between a human apoptosis specific protein and the product of APG5, a gene involved in autophagy in yeast. (PubMed id 9563500)1, 2, 3, 9 Hammond E.M.... Grand R.J.A. (1998)
    2. Essential roles of Atg5 and FADD in autophagic cell death: dissection of autophagic cell death into vacuole formation and cell death. (PubMed id 15778222)1, 3, 9 Pyo J.O....Jung Y.K. (2005)
    3. Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PubMed id 19197948)1, 4, 9 Kang M.R....Lee S.H. (2009)
    4. A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy. (PubMed id 9852036)1, 2, 9 Mizushima N.... Ohsumi Y. (1998)
    5. A novel protein expressed in mammalian cells undergoing apoptosis. (PubMed id 7796880)1, 2, 9 Grand R.J.A.... Gregory C.D. (1995)
    6. A mammalian autophagosome maturation mechanism mediated by TECPR1 and the Atg12-Atg5 conjugate. (PubMed id 22342342)1, 2 Chen D.... Zhong Q. (2012)
    7. Age at onset in Huntington's disease is modified by t he autophagy pathway: implication of the V471A polymorphism in Atg7. (PubMed id 20697744)1, 4 Metzger S....Nguyen H.P. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. A targeted association study in systemic lupus erythe matosus identifies multiple susceptibility alleles. (PubMed id 20962850)1, 4 Budarf M.L....Rioux J.D. (2010)
    10. Genome-wide association study in a Chinese Han popula tion identifies nine new susceptibility loci for systemic lupus erythematosus. (PubMed id 19838193)1, 4 Han J.W....Zhang X.J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 9474 HGNC: 589 AceView: APG5L Ensembl:ENSG00000057663 euGenes: HUgn9474
    ECgene: ATG5 Kegg: 9474 H-InvDB: ATG5

    (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 ATG5 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 ATG5 gene:
    Search GeneIP for patents involving ATG5

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



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    About This Section

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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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