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ATG12 Gene

protein-coding   GIFtS: 62
GCID: GC05M115163

Autophagy Related 12

(Previous names: Apg12 (autophagy 12, S. cerevisiae)-like, APG12 autophagy...)
(Previous symbol: APG12L)
Pneumococci & Pneumococcal Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Autophagy Related 121 2     FBR932
APG12L1 2 3     HAPG122
APG122 3     Apg12 (Autophagy, Yeast) Homolog2
Apg12 (Autophagy 12, S. Cerevisiae)-Like1     ATG12 Autophagy Related 12 Homolog2
APG12 Autophagy 12-Like1     Ubiquitin-Like Protein ATG122
APG12 Autophagy 12-Like (S. Cerevisiae)1     APG12-like3
ATG12 Autophagy Related 12 Homolog (S. Cerevisiae)1     Autophagy-Related Protein 123

External Ids:    HGNC: 5881   Entrez Gene: 91402   Ensembl: ENSG000001457827   OMIM: 6096085   UniProtKB: O948173   

Export aliases for ATG12 gene to outside databases

Previous GC identifers: GC05M115195 GC05M110344


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATG12 Gene:
Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are
enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for
degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 (PubMed
9852036)).(supplied by OMIM, Mar 2008)

GeneCards Summary for ATG12 Gene:
ATG12 (autophagy related 12) is a protein-coding gene. Diseases associated with ATG12 include inclusion body myositis, and myositis.

UniProtKB/Swiss-Prot: ATG12_HUMAN, O94817
Function: Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a
ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like
conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is
required for lipidation of ATG8 family proteins and their association to the vesicle membranes. The ATG12-ATG5
conjugate also regulates negatively the innate antiviral immune response by blocking the type I IFN production
pathway through direct association with RARRES3 and MAVS. Plays also a role in translation or delivery of
incoming viral RNA to the translation apparatus

Gene Wiki entry for ATG12 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NC_018916.2  NT_034772.7  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATG12 gene promoter:
         ISGF-3   Nkx2-2   CUTL1   LUN-1   Tal-1beta   Nkx6-1   FOXJ2 (long isoform)   SEF-1 (1)   FOXJ2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ATG12 promoter sequence
   Search Chromatin IP Primers for ATG12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATG12


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

Entrez Gene cytogenetic band: 5q21-q22   Ensembl cytogenetic band:  5q22.3   HGNC cytogenetic band: 5q21-q22

ATG12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATG12 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M115163:  view genomic region     (about GC identifiers)

Start:
115,163,893 bp from pter      End:
115,177,555 bp from pter
Size:
13,663 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ATG12_HUMAN, O94817 (See protein sequence)
Recommended Name: Ubiquitin-like protein ATG12  
Size: 140 amino acids; 15113 Da
Subunit: Forms a conjugate with ATG5. The ATG12-ATG5 conjugate forms a complex with several units of ATG16L.
Interacts with ATG3, ATG7 and ATG10. ATG12-ATG5 also interacts with MAVS, MGA, RARRES3 and TECPR1
Miscellaneous: Small amount of ATG5-ATG12 conjugate is enough to perform normal autophagy
Sequence caution: Sequence=AAH12266.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
3 PDB 3D structures from and Proteopedia for ATG12:
4GDK (3D)        4GDL (3D)        4NAW (3D)    
Secondary accessions: Q6PJV2
Alternative splicing: 2 isoforms:  O94817-1   O94817-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATG12: NX_O94817

Explore proteomics data for ATG12 at MOPED

Post-translational modifications: 

  • Acetylated by EP3001
  • Ubiquitination2 at Lys89
  • Modification sites at PhosphoSitePlus

  • See ATG12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001264712.1  NP_004698.3  

    ENSEMBL proteins: 
     ENSP00000425107   ENSP00000425164   ENSP00000424529   ENSP00000368913   ENSP00000425948  
     ENSP00000425277   ENSP00000274459  
    Reactome Protein details: O94817

    ATG12 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ATG12
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    Novus Biologicals ATG12 Proteins
    Novus Biologicals ATG12 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ATG12

    ATG12 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ATG12
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    Abcam antibodies for ATG12
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    LSBio Antibodies in human, mouse, rat for ATG12

    ATG12 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ATG12
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ATG12
    Cloud-Clone Corp. CLIAs for ATG12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR007242 Atg12

    Graphical View of Domain Structure for InterPro Entry O94817

    ProtoNet protein and cluster: O94817

    1 Blocks protein domain: IPB007242 Autophagy protein Apg12

    UniProtKB/Swiss-Prot: ATG12_HUMAN, O94817
    Domain: Shares weak sequence similarity with ubiquitin family, but contains an 'ubiquitin superfold' and the
    C-terminal Gly is required for isopeptide linkage
    Similarity: Belongs to the ATG12 family


    ATG12 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ATG12_HUMAN, O94817
    Function: Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a
    ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like
    conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is
    required for lipidation of ATG8 family proteins and their association to the vesicle membranes. The ATG12-ATG5
    conjugate also regulates negatively the innate antiviral immune response by blocking the type I IFN production
    pathway through direct association with RARRES3 and MAVS. Plays also a role in translation or delivery of
    incoming viral RNA to the translation apparatus
    Induction: Expression is induced by mitochondrial DNA deletions, chloramphenicol and nicotinamide

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11096062
         
    ATG12 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for ATG12:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  G0/1 arrest  Increased G1 DNA content 
     Increased HPV18 LCR reporter a  Increased cell size 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATG12
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATG12
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    miRNA
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    miRTarBase miRNAs that target ATG12:
    hsa-mir-30b-5p (MIRT023448)

    Block miRNA regulation of human, mouse, rat ATG12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATG12 (see all 35):
    hsa-miR-146a hsa-miR-500a hsa-miR-650 hsa-miR-570 hsa-miR-374c hsa-miR-3622b-3p hsa-miR-378 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidATG12 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ATG12
    Predesigned siRNA for gene silencing in human, mouse, rat ATG12

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: ATG12 (NM_004707)
    Sino Biological Human cDNA Clone for ATG12
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATG12

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ATG12_HUMAN, O94817: Cytoplasm (By similarity). Preautophagosomal structure membrane; Peripheral membrane
    protein. Note=TECPR1 recruits the ATG12-ATG5 conjugate to the autolysosomal membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    vacuole3
    cytosol2
    lysosome2
    mitochondrion2
    nucleus2
    endoplasmic reticulum1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0016020membrane ----
    GO:0034045pre-autophagosomal structure membrane ISS--
    GO:0043234protein complex IEA--

    ATG12 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATG12 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 pathways0.47
    Negative regulators of RIG-I/MDA5 signaling0.42
    RIG-I-like receptor signaling pathway0.47
    2Senescence and Autophagy
    Senescence and Autophagy
    3Regulation of autophagy
    Regulation of autophagy
    4Protein Stability
    Protein Stability
    5FoxO signaling pathway
    FoxO signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for ATG12
        Protein Stability

    1 BioSystems Pathway for ATG12
        Senescence and Autophagy


    1 Reactome Pathway for ATG12
        Negative regulators of RIG-I/MDA5 signaling


    3 Kegg Pathways  (Kegg details for ATG12):
        FoxO signaling pathway
    Regulation of autophagy
    RIG-I-like receptor signaling pathway


    ATG12 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATG12: 
              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

    Interactions:

        Search GeneGlobe Interaction Network for ATG12

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

    Selected Interacting proteins for ATG12 (O948172, 3 ENSP000002744594) via UniProtKB, MINT, STRING, and/or I2D (see all 297)
    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): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000045autophagic vacuole assembly ISS--
    GO:0006914autophagy ----
    GO:0032480negative regulation of type I interferon production TAS--
    GO:0045087innate immune response TAS--

    ATG12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATG12



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATG12 gene (2 alternative transcripts): 
    NM_001277783.1  NM_004707.3  

    Unigene Cluster for ATG12:

    Autophagy related 12
    Hs.264482  [show with all ESTs]
    Unigene Representative Sequence: NR_073603
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000509910 ENST00000505252 ENST00000500945 ENST00000507793 ENST00000513292
    ENST00000508464 ENST00000513322 ENST00000511984 ENST00000379594 ENST00000509598
    ENST00000505993 ENST00000513167 ENST00000514775 ENST00000274459(uc021ycr.1 uc021ycs.1 uc003krh.3 uc003kri.3)


    miRNA
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    Block miRNA regulation of human, mouse, rat ATG12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATG12 (see all 35):
    hsa-miR-146a hsa-miR-500a hsa-miR-650 hsa-miR-570 hsa-miR-374c hsa-miR-3622b-3p hsa-miR-378 hsa-miR-23a
    SwitchGear 3'UTR luciferase reporter plasmidATG12 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: ATG12 (NM_004707)
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    Primer
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    OriGene qPCR primer pairs and template standards for ATG12
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ATG12
      QuantiTect SYBR Green Assays in human, mouse, rat ATG12
      QuantiFast Probe-based Assays in human, mouse, rat ATG12

    Additional mRNA sequence: 

    AB002440.1 AB002449.2 AB017507.1 AK313320.1 BC011033.1 BC012266.2 EU554057.1 NR_033362.1 
    NR_033363.1 NR_073603.1 NR_073604.1 NR_073605.1 

    19 DOTS entries:

    DT.100680580  DT.446145  DT.215928  DT.92419910  DT.92048590  DT.101962391  DT.120806551  DT.100811754 
    DT.95259664  DT.120806525  DT.92419909  DT.100779296  DT.100779295  DT.120806511  DT.303883  DT.97858960 
    DT.100802593  DT.100810712  DT.120806520 

    Selected AceView cDNA sequences (see all 270):

    BX096680 CA438760 BC012266 BQ438977 CK822968 AI589158 BM476369 AI025710 
    N91468 BU685082 AI633671 AI858148 AI890691 BI916854 BQ086311 BP373171 
    CB241174 BQ014838 CF455031 AI860901 AA045447 BQ285915 BU741649 BG108336 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATG12 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h
    SP1:                                      -     -           -     -     -                                                         
    SP2:                          -           -     -           -     -     -                                                         
    SP3:                                -     -     -           -     -     -                                                         
    SP4:                          -     -     -     -           -     -     -                                                         
    SP5:                                                        -     -     -                                                         


    ECgene alternative splicing isoforms for ATG12

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATG12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGGCTTACA
    ATG12 Expression
    About this image

    ATG12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATG12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.264482

    UniProtKB/Swiss-Prot: ATG12_HUMAN, O94817
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ATG12: 
              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

    Primer
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    QuantiTect SYBR Green Assays in human, mouse, rat ATG12
    QuantiFast Probe-based Assays in human, mouse, rat ATG12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATG12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ATG12 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atg121 , 5 autophagy-related 12 (yeast)5
    autophagy related 121
    85.48(n)1
    89.29(a)1
      18 (24.76 cM)5
    675261  NM_026217.31  NP_080493.21 
     467324175 
    chicken
    (Gallus gallus)
    Aves ATG121 autophagy related 12 71.22(n)
    76.98(a)
      427390  XM_424963.4  XP_424963.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATG126
    autophagy related 12
    74(a)
    1 ↔ 1
    GL343193.1(8384423-8392969)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004934031 ubiquitin-like protein ATG12-like 69.31(n)
    74.6(a)
      100493403  XM_002939961.2  XP_002940007.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ddah12 dimethylarginine dimethylaminohydrolase 1 78.5(n)    BM037383.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atg121 Autophagy-specific gene 12 54.52(n)
    55.14(a)
      39383  NM_140294.4  NP_648551.3 
    worm
    (Caenorhabditis elegans)
    Secernentea lgg-36
    Protein LGG-3 (lgg-3) mRNA, complete cds
    32(a)
    1 ↔ 1
    III(5697477-5698010) WBGene00002982


    ENSEMBL Gene Tree for ATG12 (if available)
    TreeFam Gene Tree for ATG12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATG12 gene

    ATG12 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ATG12
    PGOHUM00000237173 PGOHUM00000250451


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATG12 (see all 284)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1876610451,2
    --115163426(+) ATTTAC/TCATTC 6 -- ds50010--------
    rs77268131,2
    H--115163476(+) AAAGGT/CATGTT 6 -- ds50014Minor allele frequency- C:0.00NS EA 416
    rs766789151,2
    C--115163596(+) ATGGAC/TAGGAC 6 -- ds50012Minor allele frequency- T:0.21CSA WA 120
    rs1925184481,2
    --115163645(+) TCATGG/TGTATC 6 -- ds50010--------
    rs1847982761,2
    --115163698(+) CCTCTA/GAAGAT 6 -- ds50010--------
    rs615829771,2
    C--115163710(+) TTACT-/CACGTTTT 6 -- ds50010--------
    rs1888674271,2
    --115163740(+) AATACA/GAAAAC 6 -- ds50010--------
    rs608311991,2
    C,F--115163741(+) ATACGA/TAAACA 6 -- ds50012Minor allele frequency- T:0.05WA 120
    rs1447408961,2
    C--115163766(+) AGTATC/TAGGTA 6 -- ds50010--------
    rs1917101461,2
    --115163819(+) CTTCCA/GAGATT 6 -- ds50010--------

    HapMap Linkage Disequilibrium report for ATG12 (115163893 - 115177555 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ATG12: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATG12
    DNA2.0 Custom Variant and Variant Library Synthesis for ATG12

    (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.)
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    OMIM gene information: 609608    OMIM disorders: --

    12 diseases for ATG12:    
    About MalaCards
    inclusion body myositis    myositis    myelodysplastic syndromes    acute myeloid leukemia
    myeloid leukemia    retinitis    colorectal cancer    lung cancer
    malaria    hiv-1    leukemia    breast cancer


    ATG12 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Genetic Association Database (GAD): ATG12
    Human Genome Epidemiology (HuGE) Navigator: ATG12 (2 documents)

    Export disorders for ATG12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ATG12 gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with ATG12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy. (PubMed id 9852036)1, 2, 3 Mizushima N.... Ohsumi Y. (J. Biol. Chem. 1998)
    2. 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. (J. Pathol. 2009)
    3. Regulation of autophagy by the p300 acetyltransferase. (PubMed id 19124466)1, 2, 9 Lee I.H. and Finkel T. (J. Biol. Chem. 2009)
    4. Structure of the human ATG12-ATG5 conjugate required for LC3 lipidation in autophagy. (PubMed id 23202584)1, 2 Otomo C.... Otomo T. (Nat. Struct. Mol. Biol. 2013)
    5. A mammalian autophagosome maturation mechanism mediated by TECPR1 and the Atg12-Atg5 conjugate. (PubMed id 22342342)1, 2 Chen D.... Zhong Q. (Mol. Cell 2012)
    6. Mitochondrial DNA deletions and chloramphenicol treatment stimulate the autophagic transcript ATG12. (PubMed id 17457038)1, 2 Prigione A. and Cortopassi G. (Autophagy 2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Human Apg3p/Aut1p homologue is an authentic E2 enzyme for multiple substrates, GATE-16, GABARAP, and MAP-LC3, and facilitates the conjugation of hApg12p to hApg5p. (PubMed id 11825910)1, 2 Tanida I.... Kominami E. (J. Biol. Chem. 2002)
    9. Mammalian Apg12p, but not the Apg12p.Apg5p conjugate, facilitates LC3 processing. (PubMed id 12207896)1, 2 Tanida I.... Kominami E. (Biochem. Biophys. Res. Commun. 2002)
    10. The human homolog of Saccharomyces cerevisiae Apg7p is a Protein- activating enzyme for multiple substrates including human Apg12p, GATE-16, GABARAP, and MAP-LC3. (PubMed id 11096062)1, 2 Tanida I.... Kominami E. (J. Biol. Chem. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9140 HGNC: 588 AceView: APG12L Ensembl:ENSG00000145782 euGenes: HUgn9140
    ECgene: ATG12 Kegg: 9140 H-InvDB: ATG12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATG12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATG12 gene:
    Search GeneIP for patents involving ATG12

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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