PDE12 - phosphodiesterase 12 Gene

Homo sapiens

Also known as 2-PDE; 2'-PDE

Gene ID: 201626 | Gene type: protein coding

About PDE12

Cytogenetic location: 3p14.3 Genomic coordinates (GRCh38): 3:57,556,274-57,656,495 (from NCBI)

This gene has 2 transcripts (splice variants), 204 orthologues and 5 paralogues. Ubiquitous expression in adrenal (RPKM 3.9), thyroid (RPKM 3.9) and 25 other tissues.

Summary

Enables 3'-5'-exoribonuclease activity. Involved in several processes, including RNA metabolic process; cellular response to cytokine stimulus; and regulation of mitochondrial mRNA stability. Located in mitochondrial matrix. [provided by Alliance of Genome Resources, Apr 2022]

PDE12 Products(3)

mRNA	Protein	Name
NM_001322177.2	NP_001309106.1	2',5'-phosphodiesterase 12 isoform 3 precursor
NM_001322176.2	NP_001309105.1	2',5'-phosphodiesterase 12 isoform 2
NM_177966.7	NP_808881.3	2',5'-phosphodiesterase 12 isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 3'-5'-RNA exonuclease activity	IMP IMP: Inferred from mutant phenotype	21245038	GOA
enables exonuclease activity	IDA IDA: Inferred from direct assay	22285541	GOA
enables poly(A)-specific ribonuclease activity	IMP IMP: Inferred from mutant phenotype	15231837	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in antiviral innate immune response	IDA IDA: Inferred from direct assay	15231837	GOA
involved in cellular response to dsRNA	IDA IDA: Inferred from direct assay	15231837	GOA
involved in cellular response to interferon-alpha	IMP IMP: Inferred from mutant phenotype	15231837	GOA
involved in cellular response to type II interferon	IDA IDA: Inferred from direct assay	15231837	GOA
involved in mitochondrial mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	21245038	GOA
involved in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay	IMP IMP: Inferred from mutant phenotype	21245038	GOA
involved in nucleic acid metabolic process	IDA IDA: Inferred from direct assay	22285541	GOA
involved in positive regulation of viral genome replication	IMP IMP: Inferred from mutant phenotype	15231837	GOA
involved in regulation of mitochondrial mRNA stability	IMP IMP: Inferred from mutant phenotype	21666256	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial matrix	IDA IDA: Inferred from direct assay	21666256	GOA
located in mitochondrial matrix	IMP IMP: Inferred from mutant phenotype	21245038	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDE12 Protein Structure

Exo_endo_phos

0
100
200
300
400
500
609 a.a.

Protein Preferred Names

Protein Names

2',5'-phosphodiesterase 12

2'-phosphodiesterase

mitochondrial deadenylase

Related Diseases

Diseases

Alias

Spastic Ataxia

Spax	Ataxia, Spastic

Pontocerebellar Hypoplasia, Type 7

Pontocerebellar Hypoplasia Type 7	PCH7
Pontocerebellar Hypoplasia-46,Xy Disorder Of Sex Development Syndrome	Pontocerebellar Hypoplasia 7

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-124768	PDE12-IN-3	Inhibitor	98.02%	Unkown
HY-117318	PDE12-IN-1	Inhibitor	98.85%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PDE12	VGNC	VGNC:44347
Bos taurus	PDE12	VGNC	VGNC:32670
Macaca mulatta	PDE12	VGNC	VGNC:75863
Felis catus	PDE12	VGNC	VGNC:64080
Mus musculus	PDE12	MGD	MGI:2443226
Rattus norvegicus	PDE12	RGD	RGD:1310975

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