HuLG007220

Entrez Gene ID

10577

Official Gene Symbol

NPC2

Synonyms

EDDM1|HE1|MGC1333

Gene name

Niemann-Pick disease, type C2

Gene Type

protein-coding

Chromosome

14

Genomics Location

14q24.3

Known cancer genes

Yes

Protein products

Uncharacterized protein

Epididymal secretory protein E1

Related liver disease name

Niemann-Pick's disease

Database cross reference

HGNC:14537
MIM:601015
Ensembl:ENSG00000119655
HPRD:03008
RefSeq Genomic nucleotide accession:AC_000057
RefSeq Genomic nucleotide gi:89161192

GO annotation

GO:0005576

extracellular region

GO:0005764

lysosome

GO:0009615

response to virus

GO:0015485

cholesterol binding

GO:0015914

phospholipid transport

GO:0019747

regulation of isoprenoid metabolic process

GO:0019899

enzyme binding

GO:0030301

cholesterol transport

GO:0032366

intracellular sterol transport

GO:0032367

intracellular cholesterol transport

GO:0033344

cholesterol efflux

GO:0042632

cholesterol homeostasis

GO:0046836

glycolipid transport