2. Gene
  3. PDE12 - phosphodiesterase 12 Gene

PDE12 - phosphodiesterase 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：磷酸二酯酶 12

种属: Homo sapiens

同用名: 2-PDE; 2'-PDE

基因 ID: 201626 | 基因类型: protein coding

关于 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.

功能概要

启用 3'-5'-核糖核酸外切酶活性。参与多个过程，包括 RNA 代谢过程；对细胞因子刺激的细胞反应；和调节线粒体 mRNA 的稳定性。位于线粒体基质中。 [由基因组资源联盟提供，2022 年 4 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables 3'-5'-RNA exonuclease activity IMP
IMP: 通过突变表型推断
21245038 GOA
enables exonuclease activity IDA
IDA: 通过直接分析推断
22285541 GOA
enables poly(A)-specific ribonuclease activity IMP
IMP: 通过突变表型推断
15231837 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in antiviral innate immune response IDA
IDA: 通过直接分析推断
15231837 GOA
involved in cellular response to dsRNA IDA
IDA: 通过直接分析推断
15231837 GOA
involved in cellular response to interferon-alpha IMP
IMP: 通过突变表型推断
15231837 GOA
involved in cellular response to type II interferon IDA
IDA: 通过直接分析推断
15231837 GOA
involved in mitochondrial mRNA catabolic process IMP
IMP: 通过突变表型推断
21245038 GOA
involved in nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IMP
IMP: 通过突变表型推断
21245038 GOA
involved in nucleic acid metabolic process IDA
IDA: 通过直接分析推断
22285541 GOA
involved in positive regulation of viral genome replication IMP
IMP: 通过突变表型推断
15231837 GOA
involved in regulation of mitochondrial mRNA stability IMP
IMP: 通过突变表型推断
21666256 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial matrix IDA
IDA: 通过直接分析推断
21666256 GOA
located in mitochondrial matrix IMP
IMP: 通过突变表型推断
21245038 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PDE12 蛋白结构

Exo_endo_phos

Exo_endo_phos: Endonuclease/Exonuclease/phosphatase family (299 - 599)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 609 a.a.
蛋白主名 其他名称

2',5'-phosphodiesterase 12

2'-phosphodiesterase

mitochondrial deadenylase

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-124768 PDE12-IN-3 Inhibitor 98.02% 否
HY-117318 PDE12-IN-1 Inhibitor 98.85% 否

直系同源

种属 基因名 来源 基因 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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