Gene Cluster: NPC2

Organism: Homo sapiens

Synonymous: HE1|MGC1333|NP-C2

Niemann-Pick disease, type C2

Link to Entrez Gene

Map: 14q24.3

GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0015485 cholesterol binding
GO:0015914 phospholipid transport
GO:0019747 regulation of isoprenoid metabolic process
GO:0019899 enzyme binding
GO:0032367 intracellular cholesterol transport
GO:0042632 cholesterol homeostasis
GO:0046836 glycolipid transport

Reference Sequence: NM_006432.3

921bp CDS 108..563

Homologous cDNA sequence in the JCRB Genebank

NPC2 (5:5'UTR, C:CDS, 3:3'UTR, N:Unknown)

Human
HDG0408 kaia0995_5EST kaia0995_5EST
Chimpanzee
PflB2042 PflB3589 PflB9373 PflB9374