1. Gene
  2. Npc2 - NPC intracellular cholesterol transporter 2 Gene

Npc2 - NPC intracellular cholesterol transporter 2 Gene

种属: Mus musculus

同用名: HE1; 2700012J19Rik

基因 ID: 67963 | 基因类型: protein coding

关于 Npc2

功能概要

Enables Cholesterol binding activity. Involved in Cholesterol efflux and intracellular Cholesterol transport. Located in lysosome. Is expressed in nervous system; respiratory system; and stomach. Used to study Niemann-Pick disease. Human ortholog(s) of this gene implicated in Niemann-Pick disease and Niemann-Pick disease type C2. Orthologous to human NPC2 (NPC intracellular Cholesterol transporter 2). [provided by Alliance of Genome Resources, Apr 2022]

Npc2 基因产物(1)

mRNA Protein Name
NM_023409.4 NP_075898.1 NPC intracellular cholesterol transporter 2 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 cholesterol binding IMP
IMP: 通过突变表型推断
21315718 MGI
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cholesterol efflux IMP
IMP: 通过突变表型推断
21315718 MGI
acts upstream of or within cholesterol storage IMP
IMP: 通过突变表型推断
21289032 MGI
involved in cholesterol transport IMP
IMP: 通过突变表型推断
21315718 MGI
acts upstream of or within gene expression IMP
IMP: 通过突变表型推断
21289032 MGI
involved in intracellular cholesterol transport IMP
IMP: 通过突变表型推断
17018531 MGI
acts upstream of or within sterol metabolic process IMP
IMP: 通过突变表型推断
21289032 MGI
acts upstream of or within sterol transport IMP
IMP: 通过突变表型推断
21289032 MGI
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in lysosome IDA
IDA: 通过直接分析推断
21289032 MGI
located in lysosome IDA
IDA: 通过直接分析推断
29514215 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

NPC intracellular cholesterol transporter 2

Niemann-Pick type C2

epididymal secretory protein E1

mE1

niemann Pick type C2 protein homolog

重组 Npc2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74693 Niemann Pick C2/NPC2 Protein, Mouse (HEK293, His) Q9Z0J0 (E20-S149) ≥95%

直系同源

种属 基因名 来源 基因 ID
Homo sapiens Npc2 NCBI NCBI:10577
Rattus norvegicus Npc2 NCBI NCBI:286898