2. Gene
  3. C9orf72 - C9orf72, member of C9orf72-SMCR8 complex Gene

C9orf72 - C9orf72, member of C9orf72-SMCR8 complex Gene

  • 基因
  • 蛋白
  • 相关产品
  • 直系同源

种属: Mus musculus

同用名: Dennd9; 3110043O21Rik

基因 ID: 73205 | 基因类型: protein coding

关于 C9orf72

功能概要

Enables small GTPase binding activity. Involved in several processes, including axon extension; late endosome to lysosome transport; and negative regulation of GTP binding activity. Located in several cellular components, including extracellular space; neuron projection; and perikaryon. Is expressed in several structures, including adipose tissue; alimentary system; nervous system; reproductive system; and sensory organ. Used to study autoimmune disease. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis-1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit). [provided by Alliance of Genome Resources, Apr 2022]

C9orf72 基因产物(2)

mRNA Protein Name
NM_001081343.2 NP_001074812.1 guanine nucleotide exchange factor C9orf72 homolog isoform 1
NM_028466.2 NP_082742.2 guanine nucleotide exchange factor C9orf72 homolog isoform 2
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 protein binding IPI
IPI: 通过物理相互作用推断
24549040 MGI
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
24549040 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in axon extension IMP
IMP: 通过突变表型推断
27723745 MGI
involved in late endosome to lysosome transport IMP
IMP: 通过突变表型推断
26989253 MGI
involved in negative regulation of GTP binding IMP
IMP: 通过突变表型推断
27723745 MGI
involved in negative regulation of protein phosphorylation IMP
IMP: 通过突变表型推断
27723745 MGI
involved in regulation of TORC1 signaling IMP
IMP: 通过突变表型推断
27875531 MGI
involved in regulation of actin filament organization IMP
IMP: 通过突变表型推断
27723745 MGI
involved in regulation of autophagy IMP
IMP: 通过突变表型推断
27193190 MGI
involved in regulation of protein localization IMP
IMP: 通过突变表型推断
31651360 MGI
involved in regulation of synaptic vesicle cycle IDA
IDA: 通过直接分析推断
35876881 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
24549040 MGI
located in extracellular space IDA
IDA: 通过直接分析推断
24549040 MGI
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
31651360 MGI
is active in glutamatergic synapse IEP
IEP: 通过表达模式推断
31651360 MGI
is active in hippocampal mossy fiber to CA3 synapse IDA
IDA: 通过直接分析推断
31651360 MGI
is active in hippocampal mossy fiber to CA3 synapse IEP
IEP: 通过表达模式推断
31651360 MGI
located in neuron projection IDA
IDA: 通过直接分析推断
26408000 MGI
located in nucleus IDA
IDA: 通过直接分析推断
24549040 MGI
located in perikaryon IDA
IDA: 通过直接分析推断
26408000 MGI
is active in postsynapse IDA
IDA: 通过直接分析推断
31651360 MGI
located in postsynapse IDA
IDA: 通过直接分析推断
31651360 MGI
is active in postsynapse IEP
IEP: 通过表达模式推断
31651360 MGI
located in presynapse IDA
IDA: 通过直接分析推断
31651360 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

guanine nucleotide exchange factor C9orf72 homolog

guanine nucleotide exchange C9orf72 homolog

protein C9orf72 homolog

相关产品

Clinical Phase
生物活性分子 (1)
目录号 产品名 作用方式
纯度 Phase
HY-132581 Tadnersen Inhibitor 90.06% Phase 3
Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-153898 rTRD01 Ligand 99.10% 否
HY-132581A Tadnersen sodium Inhibitor 90.06% 否
HY-132581E Scrambled Tadnersen Control / 否
HY-172902 RNA binder 1 / 否
HY-RS01760 C9orf72 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS21991 C9orf72 Mouse 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 C9orf72 NCBI NCBI:203228
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