2. Gene
  3. Epm2a - epilepsy, progressive myoclonic epilepsy, type 2 gene alpha Gene

Epm2a - epilepsy, progressive myoclonic epilepsy, type 2 gene alpha Gene

  • 基因
  • 蛋白
  • 相关产品
  • 直系同源

种属: Mus musculus

同用名: TG-B; Tg(TcraK,TcrbK)TG-BFlv

基因 ID: 13853 | 基因类型: protein coding

关于 Epm2a

功能概要

Enables identical protein binding activity; Phosphatase activity; and starch binding activity. Involved in carbohydrate phosphorylation and glycogen metabolic process. Acts upstream of or within several processes, including glycogen biosynthetic process; habituation; and regulation of cellular protein metabolic process. Located in several cellular components, including cytoplasmic side of endoplasmic reticulum membrane; dendrite; and perikaryon. Is expressed in several structures, including brain. Used to study Lafora disease and lymphoma. Human ortholog(s) of this gene implicated in Lafora disease and progressive myoclonus epilepsy. Orthologous to human EPM2A (EPM2A glucan Phosphatase, laforin). [provided by Alliance of Genome Resources, Apr 2022]

Epm2a 基因产物(1)

mRNA Protein Name
NM_010146.2 NP_034276.2 laforin
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 alpha-1,4-glucan glucosyltransferase (UDP-glucose donor) activity IEP
IEP: 通过表达模式推断
18852261 MGI
enables carbohydrate phosphatase activity IDA
IDA: 通过直接分析推断
18040046 MGI
enables carbohydrate phosphatase activity IMP
IMP: 通过突变表型推断
18040046 MGI
enables identical protein binding IPI
IPI: 通过物理相互作用推断
16971387 MGI
enables phosphatase activity IDA
IDA: 通过直接分析推断
24430976 MGI
enables phosphoprotein phosphatase activity IDA
IDA: 通过直接分析推断
16971387 MGI
enables polysaccharide binding IDA
IDA: 通过直接分析推断
15102711 MGI
enables protein binding IPI
IPI: 通过物理相互作用推断
16959610 MGI
enables protein serine/threonine phosphatase activity IDA
IDA: 通过直接分析推断
16971387 MGI
enables protein tyrosine phosphatase activity IDA
IDA: 通过直接分析推断
15541350 MGI
enables starch binding IDA
IDA: 通过直接分析推断
15102711 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within L-glutamate transmembrane transport IMP
IMP: 通过突变表型推断
26976331 MGI
acts upstream of or within Wnt signaling pathway IMP
IMP: 通过突变表型推断
16971387 MGI
acts upstream of or within autophagosome assembly IMP
IMP: 通过突变表型推断
24430976 MGI
acts upstream of or within autophagy IMP
IMP: 通过突变表型推断
24914213 MGI
acts upstream of or within calcium ion transport IMP
IMP: 通过突变表型推断
28063983 MGI
involved in carbohydrate phosphorylation IMP
IMP: 通过突变表型推断
18852261 MGI
acts upstream of or within glial cell proliferation IGI
IGI: 通过遗传相互作用推断
28973665 MGI
involved in glycogen biosynthetic process IDA
IDA: 通过直接分析推断
18040046 MGI
acts upstream of or within glycogen biosynthetic process IGI
IGI: 通过遗传相互作用推断
28536304 MGI
acts upstream of or within glycogen biosynthetic process IMP
IMP: 通过突变表型推断
28536304 MGI
involved in glycogen biosynthetic process IMP
IMP: 通过突变表型推断
17118331 MGI
acts upstream of or within glycogen metabolic process IGI
IGI: 通过遗传相互作用推断
21552327 MGI
acts upstream of or within glycogen metabolic process IMP
IMP: 通过突变表型推断
23663739 MGI
involved in glycogen metabolic process IMP
IMP: 通过突变表型推断
18852261 MGI
acts upstream of or within habituation IMP
IMP: 通过突变表型推断
12019206 MGI
acts upstream of or within macromolecule metabolic process IMP
IMP: 通过突变表型推断
23663739 MGI
acts upstream of or within mitochondrion organization IMP
IMP: 通过突变表型推断
28063983 MGI
acts upstream of or within negative regulation of cell cycle IMP
IMP: 通过突变表型推断
18824542 MGI
acts upstream of or within negative regulation of gene expression IMP
IMP: 通过突变表型推断
18824542 MGI
acts upstream of or within negative regulation of peptidyl-serine phosphorylation IMP
IMP: 通过突变表型推断
18824542 MGI
acts upstream of or within nervous system development IMP
IMP: 通过突变表型推断
12019206 MGI
acts upstream of or within positive regulation of macroautophagy IGI
IGI: 通过遗传相互作用推断
20453062 MGI
acts upstream of or within positive regulation of macroautophagy IMP
IMP: 通过突变表型推断
20453062 MGI
acts upstream of or within proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
24914213 MGI
acts upstream of or within regulation of cell growth IMP
IMP: 通过突变表型推断
18824542 MGI
acts upstream of or within regulation of gene expression IMP
IMP: 通过突变表型推断
24914213 MGI
acts upstream of or within regulation of glycogen (starch) synthase activity IMP
IMP: 通过突变表型推断
18040046 MGI
acts upstream of or within regulation of phosphorylation IMP
IMP: 通过突变表型推断
18040046 MGI
acts upstream of or within regulation of proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
27107699 MGI
acts upstream of or within regulation of protein import into nucleus IDA
IDA: 通过直接分析推断
16971387 MGI
acts upstream of or within regulation of protein kinase activity IMP
IMP: 通过突变表型推断
24914213 MGI
acts upstream of or within regulation of protein localization to plasma membrane IGI
IGI: 通过遗传相互作用推断
26976331 MGI
acts upstream of or within regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
18824542 MGI
acts upstream of or within regulation of protein ubiquitination IGI
IGI: 通过遗传相互作用推断
26976331 MGI
acts upstream of or within regulation of ubiquitin protein ligase activity IMP
IMP: 通过突变表型推断
28063983 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
17908927 MGI
located in cytoplasmic side of endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
15102711 MGI
is active in cytosol IMP
IMP: 通过突变表型推断
22669944 MGI
located in dendrite IDA
IDA: 通过直接分析推断
15102711 MGI
located in nucleus IDA
IDA: 通过直接分析推断
17908927 MGI
located in perikaryon IDA
IDA: 通过直接分析推断
15102711 MGI
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
蛋白主名 其他名称

laforin

LAFPTPase

glucan phosphatase

lafora PTPase

Epm2a 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属间
Epm2a Q9WUA5 NHLRC1 Homo sapiens Q6VVB1
Anti Tag CoIP
22578008
种属间: 跨种属相互作用 种属内: 同种属相互作用

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-RS04441 EPM2A Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS09286 NHLRC1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Epm2a NCBI NCBI:7957
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