Gene Gene information from NCBI Gene database.
Entrez ID 201626
Gene name Phosphodiesterase 12
Gene symbol PDE12
Synonyms (NCBI Gene)
2'-PDE2-PDE
Chromosome 3
Chromosome location 3p14.3
miRNA miRNA information provided by mirtarbase database.
948
miRTarBase ID miRNA Experiments Reference
MIRT005039 hsa-let-7b-5p Microarray 17699775
MIRT020694 hsa-miR-155-5p Proteomics 18668040
MIRT023732 hsa-miR-1-3p Proteomics 18668040
MIRT029374 hsa-miR-26b-5p Microarray 19088304
MIRT005039 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000175 Function 3'-5'-RNA exonuclease activity IBA
GO:0000175 Function 3'-5'-RNA exonuclease activity IMP 21245038, 21666256
GO:0000288 Process Nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IBA
GO:0000288 Process Nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IMP 21245038
GO:0000958 Process Mitochondrial mRNA catabolic process IMP 21245038, 21666256
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616519 25386 ENSG00000174840
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6L8Q7
Protein name 2',5'-phosphodiesterase 12 (2'-PDE) (2-PDE) (EC 3.1.4.-) (Mitochondrial deadenylase) (EC 3.1.13.4)
Protein function Enzyme that cleaves 2',5'-phosphodiester bond linking adenosines of the 5'-triphosphorylated oligoadenylates, triphosphorylated oligoadenylates referred as 2-5A modulates the 2-5A system. Degrades triphosphorylated 2-5A to produce AMP and ATP (P
PDB 4Z0V , 4Z2B , 4ZKF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03372 Exo_endo_phos 298 599 Endonuclease/Exonuclease/phosphatase family Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:15231837}.
Sequence
MWRLPGARAALRVIRTAVEKLSRAEAGSQTAAGAMERAVVRCVPSEPKLSLSFALADGSH
KNMQRDQSEPLGRVLSRIATNALKGHAKAAAAKKSRKSRPNASGGAACSGPGPEPAVFCE
PVVKLYYREEAVAEDVLNVDAWQDGAVLQIGDVKYKVERNPPAFTELQLPRYIMAGFPVC
PKLSLEFGDPASSLFRWYKEAKPGAAEPEVGVPSSLSPSSPSSSWTETDVEERVYTPSNA
DIGLRLKLHCTPGDGQRFGHSRELESVCVVEAGPGTCTFDHRHLYTKKVTEDALIRTVSY
NILADTYAQTEFSRTVLYPYCAPYALELDYRQNLIQKELTGYNADVICLQEVDRAVFSDS
LVPALEAFGLEGVFRIKQHEGLATFYRKSKFSLLSQHDISFYEALESDPLHKELLEKLVL
YPSAQEKVLQRSSVLQVSVLQSTKDSSKRICVANTHLYWHPKGGYIRLIQMAVALAHIRH
VSCDLYPGIPVIFCGDFNSTPSTGMYHFVINGSIPEDHEDWASNGEEERCNMSLTHFFKL
KSACGEPAYTNYVGGFHGCLDYIFIDLNALEVEQVIPLPSHEEVTTHQALPSVSHPSDH
I
ALVCDLKWK
Sequence length 609
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    OAS antiviral response
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
COVID 19 Associate 36307540
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Associate 35058920, 36307540
★☆☆☆☆
Found in Text Mining only