Npc2 - NPC intracellular cholesterol transporter 2 Gene

Mus musculus

Also known as HE1; 2700012J19Rik

Gene ID: 67963 | Gene type: protein coding

About Npc2

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables cholesterol binding	IMP IMP: Inferred from mutant phenotype	21315718	MGI

Biological Process GO Annotation	Evidence	Reference	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	Reference	Source
is active in lysosome	IDA IDA: Inferred from direct assay	21289032	MGI
located in lysosome	IDA IDA: Inferred from direct assay	29514215	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

NPC intracellular cholesterol transporter 2

Niemann-Pick type C2	epididymal secretory protein E1
mE1	niemann Pick type C2 protein homolog

Recombinant Npc2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74693	Niemann Pick C2/NPC2 Protein, Mouse (HEK293, His)	Q9Z0J0 (E20-S149)	≥95%

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09476	NPC2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Npc2	NCBI	NCBI:10577
Rattus norvegicus	Npc2	NCBI	NCBI:286898

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