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

Gene ID: 10577, updated on 13-Feb-2019

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:
5
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (74479940..74493381, 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 FunctionsWhat'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 BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
    LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
  • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
    Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
  • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
    Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...

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 IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
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 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 
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
    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_006432.4NP_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)
    AC005479, BC002532
    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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    74479940..74493381 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020930.2XP_016876419.1  NPC intracellular cholesterol transporter 2 isoform X1

    UniProtKB/TrEMBL
    G3V3E8
    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 ...
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