Gene Gene information from NCBI Gene database.
Entrez ID 9140
Gene name Autophagy related 12
Gene symbol ATG12
Synonyms (NCBI Gene)
APG12APG12LFBR93HAPG12
Chromosome 5
Chromosome location 5q22.3
Summary 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 o
miRNA miRNA information provided by mirtarbase database.
1030
miRTarBase ID miRNA Experiments Reference
MIRT023448 hsa-miR-30b-5p Sequencing 20371350
MIRT023448 hsa-miR-30b-5p GFP reporter assayLuciferase reporter assayqRT-PCRWestern blot 22647547
MIRT023448 hsa-miR-30b-5p GFP reporter assayLuciferase reporter assayqRT-PCRWestern blot 22647547
MIRT438871 hsa-miR-30d-5p Luciferase reporter assay 23274497
MIRT438324 hsa-miR-23b-3p ImmunohistochemistryLuciferase reporter assayqRT-PCRWestern blot 23916944
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0000045 Process Autophagosome assembly IBA
GO:0000045 Process Autophagosome assembly IEA
GO:0000045 Process Autophagosome assembly ISO
GO:0000045 Process Autophagosome assembly ISS
GO:0000421 Component Autophagosome membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609608 588 ENSG00000145782
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O94817
Protein name Ubiquitin-like protein ATG12 (Autophagy-related protein 12) (APG12-like)
Protein 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 i
PDB 4GDK , 4GDL , 4NAW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04110 APG12 54 140 Ubiquitin-like autophagy protein Apg12 Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9852036}.
Sequence
Sequence length 140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Autophagy - other
Autophagy - animal
NOD-like receptor signaling pathway
RIG-I-like receptor signaling pathway
Shigellosis
  Macroautophagy
Pink/Parkin Mediated Mitophagy
Receptor Mediated Mitophagy
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
COLORECTAL CANCER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 23389729
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 28440437
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 29039784 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28440437
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 28381171
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 23307622
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34870550 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 19197948
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 27729742, 30602494, 39746597 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of bladder Bladder carcinoma BEFREE 28381171
★☆☆☆☆
Found in Text Mining only