Gene

NPC2

Species
Saccharomyces cerevisiae
Symbol
NPC2
Name
Niemann Pick type C homolog
Synonyms
  • YDL046W
Biotype
protein coding gene
Automated Description
Enables phospholipid binding activity and sterol binding activity. Involved in intracellular sterol transport. Located in fungal-type vacuole lumen. Used to study Niemann-Pick disease and Niemann-Pick disease type C2.
SGD Description
Sterol transport protein, functional homolog of human NPC2 Niemann-Pick disease type C2 protein; together with Ncr1p mediates integration of ergosterol into vacuolar membrane; functions as general “lipid solubilizer”, binds variety of amphiphilic lipid ligands; targeted to vacuole via Vps10p-dependent endosomal vacuolar protein sorting pathway; yeast NPC2 can complement mutations in human NPC2
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11306:SF0
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
None

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
R64-5-1
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371.25k371.30k371.35k371.40k371.45k371.50k371.55k371.60k371.65k371.70k371.75k

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions