NPC2 Gene Sequence, Family, Fuction and Expression Information

NPC2 cDNA / Gene Overview

NPC2 gene / cDNA is a protein-coding gene which located on 14q24.3. The NPC2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, and frog.240 organisms have orthologs with human gene NPC2.

NPC2 cDNA / Gene Function

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]

NPC2 cDNA / Gene Sequence

LOCUS
LOCUS NM_006432 1033 bp mRNA linear PRI 02-JUL-2018
DEFINITION
Homo sapiens NPC intracellular cholesterol transporter 2 (NPC2), transcript variant 2, mRNA.
ACCESSION
NM_006432
VERSION
NM_006432.4

This sequence information is just for reference only.

NPC2 cDNA / Gene Alias

  • EDDM1
  • epididymal protein 1
  • HE1
  • NP-C2

NPC2 cDNA / Gene Expression

Ubiquitous expression in lung (RPKM 202.8), thyroid (RPKM 113.6) and 25 other tissues