Npc2 - NPC intracellular cholesterol transporter 2 Gene
Also Known as HE1; 2700012J19Rik
Species: Mus musculus
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_023409.4 | NP_075898.1 | NPC intracellular cholesterol transporter 2 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cholesterol binding |
IMP
IMP: Inferred from mutant phenotype
|
21315718 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cholesterol efflux |
IMP
IMP: Inferred from mutant phenotype
|
21315718 | MGI |
| acts upstream of or within cholesterol storage |
IMP
IMP: Inferred from mutant phenotype
|
21289032 | MGI |
| involved in cholesterol transport |
IMP
IMP: Inferred from mutant phenotype
|
21315718 | MGI |
| acts upstream of or within gene expression |
IMP
IMP: Inferred from mutant phenotype
|
21289032 | MGI |
| involved in intracellular cholesterol transport |
IMP
IMP: Inferred from mutant phenotype
|
17018531 | MGI |
| acts upstream of or within sterol metabolic process |
IMP
IMP: Inferred from mutant phenotype
|
21289032 | MGI |
| acts upstream of or within sterol transport |
IMP
IMP: Inferred from mutant phenotype
|
21289032 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in lysosome |
IDA
IDA: Inferred from direct assay
|
21289032 | MGI |
| located in lysosome |
IDA
IDA: Inferred from direct assay
|
29514215 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
NPC intracellular cholesterol transporter 2 |
|
|
Recombinant Npc2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P74693 | Niemann Pick C2/NPC2 Protein, Mouse (HEK293, His) | Q9Z0J0 (E20-S149) | ≥ 95%, as determined by reducing SDS-PAGE. |