NPC2 Gene Summary [Human]
This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | NPC2 |
| Official Name | NPC intracellular cholesterol transporter 2 [Source:HGNC Symbol;Acc:HGNC:14537] |
| Ensembl ID | ENSG00000119655 |
| Bio databases IDs | |
| Aliases | NPC intracellular cholesterol transporter 2, epididymal protein 1 |
| Synonyms | 2700012J19Rik, AU045843, EDDM1, HE1, NPC intracellular cholesterol transporter 2, re1 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human NPC2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid transporter
- cholesterol binding
- ML
- enzyme binding
- ML domain
- protein binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cutaneous melanoma
- epithelial neoplasia
- breast cancer
- glioblastoma
- liver cancer
- epithelial cancer
- cholangiocarcinoma cancer
- pancreatic epithelial cancer
- Niemann-Pick disease type C2
- Niemann-Pick disease type C
role in cell
- expression in
- cell death
- phosphorylation in
- differentiation
- production in
- accumulation in
- activation
- induction in
- function
- activity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- endosome core
- azurophil granule lumen
- Cytoplasm
- lysosome
- Mitochondria
- cytosol
- lysosomal compartment
- cytoplasmic vesicles
- phagosomes
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NPC2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of isoprenoid metabolic process
- cholesterol metabolic process
- response to virus
- cholesterol homeostasis
- glycolipid transport
- cholesterol storage
- intracellular sterol transport
- intracellular cholesterol transport
- phospholipid transport
- gene expression
- cholesterol efflux
- cholesterol transport
Cellular Component
Where in the cell the gene product is active
- extracellular space
- extracellular vesicular exosome
- lysosomal lumen
- endoplasmic reticulum
- extracellular region
- azurophil granule lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- protein binding
- cholesterol binding
- enzyme binding