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NPC2 Niemann-Pick disease, type C2 [ Homo sapiens (human) ]

Gene ID: 10577, updated on 26-Aug-2014
Official Symbol
NPC2provided by HGNC
Official Full Name
Niemann-Pick disease, type C2provided by HGNC
Primary source
HGNC:14537
See related
Ensembl:ENSG00000119655; HPRD:03008; MIM:601015; Vega:OTTHUMG00000171212
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]
See NPC2 in Epigenomics, MapViewer
Location:
14q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 Neighboring gene uncharacterized LOC101928352

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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 Protein Interaction Database

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC1333

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding 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 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 sterol transport IDA
Inferred from Direct Assay
more info
PubMed 
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
endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
epididymal secretory protein E1
Names
epididymal secretory protein E1
epididymal protein 1
tissue-specific secretory protein
human epididymis-specific protein 1
Niemann-Pick disease type C2 protein

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 

    Range
    5001..18442
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006432.3NP_006423.1  epididymal secretory protein E1 precursor

    See proteins identical to NP_006423.1

    Status: REVIEWED

    Source sequence(s)
    BC002532
    Consensus CDS
    CCDS32121.1
    UniProtKB/Swiss-Prot
    P61916
    Related
    ENSP00000451112, OTTHUMP00000245453, ENST00000555619, OTTHUMT00000412346
    Conserved Domains (1) summary
    cd00916
    Location:24145
    Blast Score: 404
    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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

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

mRNA and Protein(s)

  1. XM_006720004.1XP_006720067.1  

    UniProtKB/TrEMBL
    G3V3E8
    Conserved Domains (1) summary
    cd00916
    Location:24145
    Blast Score: 412
    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 ...

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    55115095..55128528
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    74886183..74899622
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)