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Aliases for ATG12 Gene

Aliases for ATG12 Gene

  • Autophagy Related 12 2 3 5
  • APG12 Autophagy 12-Like 2 3
  • APG12L 3 4
  • APG12 3 4
  • ATG12 Autophagy Related 12 Homolog (S. Cerevisiae) 2
  • Apg12 (Autophagy 12, S. Cerevisiae)-Like 2
  • APG12 Autophagy 12-Like (S. Cerevisiae) 2
  • ATG12 Autophagy Related 12 Homolog 3
  • Apg12 (Autophagy, Yeast) Homolog 3
  • Ubiquitin-Like Protein ATG12 3
  • Autophagy-Related Protein 12 4
  • APG12-Like 4
  • HAPG12 3
  • FBR93 3

External Ids for ATG12 Gene

Previous HGNC Symbols for ATG12 Gene

  • APG12L

Previous GeneCards Identifiers for ATG12 Gene

  • GC05M115195
  • GC05M110344
  • GC05M115163

Summaries for ATG12 Gene

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 Stomatitis and Mouth Disease. Among its related pathways are Pink/Parkin Mediated Mitophagy and Innate Immune System. Gene Ontology (GO) annotations related to this gene include Atg8 ligase activity.

UniProtKB/Swiss-Prot for ATG12 Gene

  • 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.

  • (Microbial infection) May act as a proviral factor. In association with ATG5, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for the initiation of HCV replication, but not required once infection is established (PubMed:19666601).

Gene Wiki entry for ATG12 Gene

Additional gene information for ATG12 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATG12 Gene

Genomics for ATG12 Gene

GeneHancer (GH) Regulatory Elements for ATG12 Gene

Promoters and enhancers for ATG12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I115838 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 565.2 -0.3 -268 6.3 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 ZNF143 SP3 ATG12 AP3S1 CDO1 ENSG00000250015 PGGT1B SEMA6A-AS1 GC05M115886
GH05I115540 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 19.2 +298.7 298713 5.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 FEM1C SEMA6A-AS1 ENSG00000250015 ATG12 LOC101927100 TICAM2 PGGT1B TMED7-TICAM2 TMED7 CCT5P1
GH05I115815 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 16.1 +25.3 25334 1.7 ZNF2 YY1 GLIS2 ZNF213 ZNF263 SP3 MXD4 REST ZNF518A GLIS1 CDO1 ATG12 PGGT1B GC05M115775 RNU2-49P
GH05I115261 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.1 +579.2 579236 2.2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF766 PGGT1B ENSG00000271797 ATG12 CCDC112
GH05I115927 Enhancer 1.1 FANTOM5 ENCODE 20 -88.4 -88423 4.6 ZNF473 INSM2 KLF17 TCF12 ZNF23 ZNF366 SCRT2 ZNF416 ZNF207 FOS GC05M115931 ENSG00000250015 SEMA6A-AS1 ATG12 LVRN PGGT1B GC05M115886
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATG12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ATG12 gene promoter:

Genomic Locations for ATG12 Gene

Genomic Locations for ATG12 Gene
chr5:115,828,196-115,841,858
(GRCh38/hg38)
Size:
13,663 bases
Orientation:
Minus strand
chr5:115,163,893-115,177,555
(GRCh37/hg19)

Genomic View for ATG12 Gene

Genes around ATG12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATG12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATG12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATG12 Gene

Proteins for ATG12 Gene

  • Protein details for ATG12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94817-ATG12_HUMAN
    Recommended name:
    Ubiquitin-like protein ATG12
    Protein Accession:
    O94817
    Secondary Accessions:
    • Q6PJV2

    Protein attributes for ATG12 Gene

    Size:
    140 amino acids
    Molecular mass:
    15113 Da
    Quaternary structure:
    • Forms a conjugate with ATG5 (PubMed:11096062, PubMed:12207896, PubMed:11825910, PubMed:17709747, PubMed:26812546, PubMed:23202584). The ATG12-ATG5 conjugate forms a complex with several units of ATG16L (PubMed:23202584). Interacts with DHX58/RIG-1, IFIH1/MDA5 and MAVS/IPS-1 in monomeric form as well as in ATG12-ATG5 conjugate. The interaction with MAVS is further enhanced upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Interacts with ATG3 and ATG7 (PubMed:11096062, PubMed:12207896, PubMed:11825910, PubMed:23202584). Interacts with ATG10 (By similarity). Interacts with TECPR1 (PubMed:22342342).
    Miscellaneous:
    • Small amount of ATG5-ATG12 conjugate is enough to perform normal autophagy.
    SequenceCaution:
    • Sequence=AAH12266.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATG12 Gene

    Alternative splice isoforms for ATG12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATG12 Gene

Post-translational modifications for ATG12 Gene

Other Protein References for ATG12 Gene

No data available for DME Specific Peptides for ATG12 Gene

Domains & Families for ATG12 Gene

Gene Families for ATG12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for ATG12 Gene

Suggested Antigen Peptide Sequences for ATG12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94817

UniProtKB/Swiss-Prot:

ATG12_HUMAN :
  • Shares weak sequence similarity with ubiquitin family, but contains an ubiquitin superfold and the C-terminal Gly is required for isopeptide linkage.
  • Belongs to the ATG12 family.
Domain:
  • Shares weak sequence similarity with ubiquitin family, but contains an ubiquitin superfold and the C-terminal Gly is required for isopeptide linkage.
Family:
  • Belongs to the ATG12 family.
genes like me logo Genes that share domains with ATG12: view

Function for ATG12 Gene

Molecular function for ATG12 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
(Microbial infection) May act as a proviral factor. In association with ATG5, negatively regulates the innate antiviral immune response by impairing the type I IFN production pathway upon vesicular stomatitis virus (VSV) infection (PubMed:17709747). Required for the translation of incoming hepatitis C virus (HCV) RNA and, thereby, for the initiation of HCV replication, but not required once infection is established (PubMed:19666601).
UniProtKB/Swiss-Prot Induction:
Expression is induced by mitochondrial DNA deletions, chloramphenicol and nicotinamide.

Phenotypes From GWAS Catalog for ATG12 Gene

Gene Ontology (GO) - Molecular Function for ATG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9852036
GO:0019776 Atg8 ligase activity IBA --
genes like me logo Genes that share ontologies with ATG12: view
genes like me logo Genes that share phenotypes with ATG12: view

Animal Models for ATG12 Gene

MGI Knock Outs for ATG12:

miRNA for ATG12 Gene

miRTarBase miRNAs that target ATG12

Clone Products

  • Addgene plasmids for ATG12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATG12 Gene

Localization for ATG12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATG12 Gene

Cytoplasm. Preautophagosomal structure membrane; Peripheral membrane protein. Note=TECPR1 recruits the ATG12-ATG5 conjugate to the autolysosomal membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATG12 gene
Compartment Confidence
cytosol 5
mitochondrion 3
lysosome 3
nucleus 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1

Gene Ontology (GO) - Cellular Components for ATG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005776 autophagosome IDA 24954904
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0030670 phagocytic vesicle membrane TAS --
genes like me logo Genes that share ontologies with ATG12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATG12 Gene

Pathways & Interactions for ATG12 Gene

genes like me logo Genes that share pathways with ATG12: view

SIGNOR curated interactions for ATG12 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ATG12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly ISS --
GO:0000422 autophagy of mitochondrion IBA --
GO:0002376 immune system process IEA --
GO:0006501 C-terminal protein lipidation IBA --
GO:0006914 autophagy IEA --
genes like me logo Genes that share ontologies with ATG12: view

Drugs & Compounds for ATG12 Gene

(6) Drugs for ATG12 Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Nimodipine Approved, Investigational Pharma Potentiation, Activator 27
Omeprazole Approved, Investigational, Vet_approved Pharma Activator H+,K+-ATPase inhibitor 373
Dexamethasone (DHAP) Pharma Glucocorticoidan;ti-inflammatory 0
Sulfacetamide Sodium Pharma Sulfonamide antibiotic 0
Trifluoperazine 2HCl Pharma 0

(6) ApexBio Compounds for ATG12 Gene

Compound Action Cas Number
Dexamethasone (DHAP) Glucocorticoidan;ti-inflammatory 1950-02-2
Divalproex Sodium Epilepsy/migraines/bipolar disorder medicine 76584-70-8
Nimodipine 66085-59-4
Omeprazole H+,K+-ATPase inhibitor 73590-58-6
Sulfacetamide Sodium Sulfonamide antibiotic 127-56-0
Trifluoperazine 2HCl 440-17-5
genes like me logo Genes that share compounds with ATG12: view

Drug Products

Transcripts for ATG12 Gene

Unigene Clusters for ATG12 Gene

Autophagy related 12:
Representative Sequences:

Clone Products

  • Addgene plasmids for ATG12

Alternative Splicing Database (ASD) splice patterns (SP) for ATG12 Gene

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: - - -
SP6: - -
SP7:
SP8: - - - - - - - -
SP9:

Relevant External Links for ATG12 Gene

GeneLoc Exon Structure for
ATG12
ECgene alternative splicing isoforms for
ATG12

Expression for ATG12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ATG12 Gene

Protein differential expression in normal tissues from HIPED for ATG12 Gene

This gene is overexpressed in Lymph node (10.4), Spleen (9.8), and Uterus (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ATG12 Gene



Protein tissue co-expression partners for ATG12 Gene

NURSA nuclear receptor signaling pathways regulating expression of ATG12 Gene:

ATG12

SOURCE GeneReport for Unigene cluster for ATG12 Gene:

Hs.264482

mRNA Expression by UniProt/SwissProt for ATG12 Gene:

O94817-ATG12_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATG12 Gene

  • Nervous system(4.7)
  • Muscle(2.1)
  • Intestine(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with ATG12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG12 Gene

Orthologs for ATG12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATG12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATG12 33 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia ATG12 33 34
  • 89.05 (n)
cow
(Bos Taurus)
Mammalia ATG12 33 34
  • 88.57 (n)
mouse
(Mus musculus)
Mammalia Atg12 33 16 34
  • 85.48 (n)
rat
(Rattus norvegicus)
Mammalia Atg12 33
  • 82.86 (n)
oppossum
(Monodelphis domestica)
Mammalia ATG12 34
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATG12 33 34
  • 71.22 (n)
lizard
(Anolis carolinensis)
Reptilia ATG12 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493403 33
  • 69.31 (n)
zebrafish
(Danio rerio)
Actinopterygii atg12 33 34
  • 64.58 (n)
ddah1 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13941 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007296 33
  • 60.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta Atg12 33 34
  • 54.52 (n)
worm
(Caenorhabditis elegans)
Secernentea lgg-3 34
  • 32 (a)
OneToOne
Species where no ortholog for ATG12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATG12 Gene

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

Paralogs for ATG12 Gene

Pseudogenes.org Pseudogenes for ATG12 Gene

genes like me logo Genes that share paralogs with ATG12: view

No data available for Paralogs for ATG12 Gene

Variants for ATG12 Gene

Sequence variations from dbSNP and Humsavar for ATG12 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000265343 -- 115,829,670(-) G/C 3_prime_UTR_variant, non_coding_transcript_variant
rs1000599299 -- 115,830,696(-) T/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1000631910 -- 115,831,037(-) T/G 3_prime_UTR_variant, non_coding_transcript_variant
rs1000755428 -- 115,840,789(-) T/C intron_variant
rs1001312374 -- 115,841,000(-) C/T intron_variant

Variation tolerance for ATG12 Gene

Residual Variation Intolerance Score: 62.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.54; 29.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATG12 Gene

Human Gene Mutation Database (HGMD)
ATG12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATG12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ATG12 Gene

Disorders for ATG12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ATG12 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
stomatitis
mouth disease
  • abnormality of the mouth
- elite association - COSMIC cancer census association via MalaCards
Search ATG12 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ATG12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ATG12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATG12 Gene

Publications for ATG12 Gene

  1. Regulation of autophagy by the p300 acetyltransferase. (PMID: 19124466) Lee IH … Finkel T (The Journal of biological chemistry 2009) 3 4 22 58
  2. Frameshift mutations of autophagy-related genes ATG2B, ATG5, ATG9B and ATG12 in gastric and colorectal cancers with microsatellite instability. (PMID: 19197948) Kang MR … Lee SH (The Journal of pathology 2009) 3 22 44 58
  3. A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy. (PMID: 9852036) Mizushima N … Ohsumi Y (The Journal of biological chemistry 1998) 2 3 4 58
  4. Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. (PMID: 26812546) Kim M … Burmeister M (eLife 2016) 3 4 58
  5. Structure of the human ATG12~ATG5 conjugate required for LC3 lipidation in autophagy. (PMID: 23202584) Otomo C … Otomo T (Nature structural & molecular biology 2013) 3 4 58

Products for ATG12 Gene

  • Addgene plasmids for ATG12

Sources for ATG12 Gene

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