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NPC2 NPC intracellular cholesterol transporter 2 [ Homo sapiens (human) ]

Gene ID: 10577, updated on 13-Mar-2020

Summary

Official Symbol
NPC2provided by HGNC
Official Full Name
NPC intracellular cholesterol transporter 2provided by HGNC
Primary source
HGNC:HGNC:14537
See related
Ensembl:ENSG00000119655 MIM:601015
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HE1; EDDM1
Summary
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]
Expression
Ubiquitous expression in lung (RPKM 202.8), thyroid (RPKM 113.6) and 25 other tissues See more
Orthologs

Genomic context

See NPC2 in Genome Data Viewer
Location:
14q24.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (74479935..74493512, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74942900..74960084, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene 2 Neighboring gene synapse differentiation inducing 1 like Neighboring gene microRNA 4709 Neighboring gene RAP1A, member of RAS oncogene family pseudogene Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene latent transforming growth factor beta binding protein 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Pr55(Gag) gag NPC2-deficient cells exhibit Gag accumulation in late endosomal/lysosomal (LE/L) compartments of these cells as well as decreased NPC1 expression after HIV infection PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC1333

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
intermembrane cholesterol transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
cholesterol efflux IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cholesterol metabolic process IEA
Inferred from Electronic Annotation
more info
 
cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
glycolipid transport TAS
Traceable Author Statement
more info
PubMed 
intracellular cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
intracellular cholesterol transport IGI
Inferred from Genetic Interaction
more info
PubMed 
intracellular cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular sterol transport IDA
Inferred from Direct Assay
more info
PubMed 
low-density lipoprotein particle clearance TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
phospholipid transport TAS
Traceable Author Statement
more info
PubMed 
regulation of isoprenoid metabolic process TAS
Traceable Author Statement
more info
PubMed 
response to virus IEP
Inferred from Expression Pattern
more info
PubMed 
sterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
azurophil granule lumen TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IMP
Inferred from Mutant Phenotype
more info
PubMed 
lysosomal lumen TAS
Traceable Author Statement
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
NPC intracellular cholesterol transporter 2
Names
Niemann-Pick disease type C2 protein
epididymal protein 1
epididymis secretory sperm binding protein
human epididymis-specific protein 1
tissue-specific secretory protein

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007117.1 RefSeqGene

    Range
    4870..18447
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001363688.1NP_001350617.1  NPC intracellular cholesterol transporter 2 isoform 1 precursor

    Status: REVIEWED

    Source sequence(s)
    AC005479, CB265591
    Consensus CDS
    CCDS86413.1
    Related
    ENSP00000451206.1, ENST00000557510.5
    Conserved Domains (1) summary
    cd00916
    Location:24145
    Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...
  2. NM_001375440.1NP_001362369.1  NPC intracellular cholesterol transporter 2 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AK298975, GQ891387
    Related
    ENSP00000442488.1, ENST00000541064.5
  3. NM_006432.5NP_006423.1  NPC intracellular cholesterol transporter 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_006423.1

    Status: REVIEWED

    Source sequence(s)
    GQ891387
    Consensus CDS
    CCDS32121.1
    UniProtKB/Swiss-Prot
    P61916
    UniProtKB/TrEMBL
    A0A024R6C0
    Related
    ENSP00000451112.1, ENST00000555619.5
    Conserved Domains (1) summary
    cd00916
    Location:24145
    Npc2_like; Niemann-Pick type C2 (Npc2) is a lysosomal protein in which a mutation in the gene causes a rare form of Niemann-Pick type C disease, an autosomal recessive lipid storage disorder characterized by accumulation of low-density lipoprotein-derived ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    74479935..74493512 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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