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Aliases for NPC2 Gene

Aliases for NPC2 Gene

  • Niemann-Pick Disease, Type C2 2 3
  • HE1 3 4 6
  • Niemann-Pick Disease Type C2 Protein 3 4
  • Human Epididymis-Specific Protein 1 3 4
  • Epididymal Protein 1 2 3
  • Tissue-Specific Secretory Protein 3
  • Epididymal Secretory Protein E1 3
  • EDDM1 3

External Ids for NPC2 Gene

Summaries for NPC2 Gene

Entrez Gene Summary for NPC2 Gene

  • 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]

GeneCards Summary for NPC2 Gene

NPC2 (Niemann-Pick Disease, Type C2) is a Protein Coding gene. Diseases associated with NPC2 include niemann-pick disease, type c2 and niemann-pick disease. Among its related pathways are Lysosome and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). GO annotations related to this gene include enzyme binding and cholesterol binding.

UniProtKB/Swiss-Prot for NPC2 Gene

  • Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular tag team duo (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPC2 Gene

Genomics for NPC2 Gene

Genomic Location for NPC2 Gene

Start:
74,476,192 bp from pter
End:
74,494,177 bp from pter
Size:
17,986 bases
Orientation:
Minus strand

Genomic View for NPC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NPC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPC2 Gene

Regulatory Elements for NPC2 Gene

Proteins for NPC2 Gene

  • Protein details for NPC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61916-NPC2_HUMAN
    Recommended name:
    Epididymal secretory protein E1
    Protein Accession:
    P61916
    Secondary Accessions:
    • B4DQV7
    • Q15668
    • Q29413

    Protein attributes for NPC2 Gene

    Size:
    151 amino acids
    Molecular mass:
    16570 Da
    Quaternary structure:
    • Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking. Interacts with DHDDS. Interacts with NPC1 (via the second lumenal domain) in a cholestrol-dependent manner (By similarity). Interacts with NEDD4L (via C2 domain) (By similarity). Interacts with NPC1L1.

    Alternative splice isoforms for NPC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPC2 Gene

Proteomics data for NPC2 Gene at MOPED

Post-translational modifications for NPC2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn58 and Asn135

No data available for DME Specific Peptides for NPC2 Gene

Domains for NPC2 Gene

Protein Domains for NPC2 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

NPC2_HUMAN
Family:
  • Belongs to the NPC2 family.:
    • P61916
genes like me logo Genes that share domains with NPC2: view

No data available for Gene Families for NPC2 Gene

Function for NPC2 Gene

Molecular function for NPC2 Gene

UniProtKB/Swiss-Prot Function: Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the endosomal/lysosomal compartment. Both NPC1 and NPC2 function as the cellular tag team duo (TTD) to catalyze the mobilization of cholesterol within the multivesicular environment of the late endosome (LE) to effect egress through the limiting bilayer of the LE. NPC2 binds unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes and transfers it to the cholesterol-binding pocket of the N-terminal domain of NPC1. Cholesterol binds to NPC1 with the hydroxyl group buried in the binding pocket and is exported from the limiting membrane of late endosomes/ lysosomes to the ER and plasma membrane by an unknown mechanism. The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport.
UniProtKB/Swiss-Prot Induction: Down-regulated in response to enterovirus 71 (EV71) infection.

Gene Ontology (GO) - Molecular Function for NPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19664597
GO:0015485 cholesterol binding IDA 17018531
GO:0019899 enzyme binding IPI 15110773
genes like me logo Genes that share ontologies with NPC2: view
genes like me logo Genes that share phenotypes with NPC2: view

miRNA for NPC2 Gene

miRTarBase miRNAs that target NPC2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for NPC2 Gene

Localization for NPC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPC2 Gene

Secreted. Endoplasmic reticulum. Lysosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NPC2 Gene COMPARTMENTS Subcellular localization image for NPC2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 5
vacuole 5
endosome 3
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 11125141
GO:0005783 endoplasmic reticulum IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NPC2: view

Pathways for NPC2 Gene

genes like me logo Genes that share pathways with NPC2: view

Pathways by source for NPC2 Gene

Gene Ontology (GO) - Biological Process for NPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008203 cholesterol metabolic process IEA --
GO:0009615 response to virus IEP 16548883
GO:0015914 phospholipid transport TAS 17018531
GO:0019747 regulation of isoprenoid metabolic process TAS 15110773
GO:0030301 cholesterol transport IDA 17018531
genes like me logo Genes that share ontologies with NPC2: view

Compounds for NPC2 Gene

(519) HMDB Compounds for NPC2 Gene

Compound Synonyms Cas Number PubMed IDs
3-Dehydrosphinganine
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • Sulfatide (d18:1/12:0)
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • Sulfatide (d18:1/14:0)
Not Available
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • Sulfatide (d18:1/16:0)
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • Sulfatide (d18:1/18:0)
244215-65-4

(6) Novoseek inferred chemical compound relationships for NPC2 Gene

Compound -log(P) Hits PubMed IDs
cholesterol 70.4 88
sterol 64.5 15
glycolipid 50 3
lipid 44.6 11
ganglioside 25.6 1
genes like me logo Genes that share compounds with NPC2: view

Transcripts for NPC2 Gene

Unigene Clusters for NPC2 Gene

Niemann-Pick disease, type C2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NPC2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b · 5c · 5d
SP1: - -
SP2: -
SP3: - - -
SP4:
SP5: - - -

Relevant External Links for NPC2 Gene

GeneLoc Exon Structure for
NPC2
ECgene alternative splicing isoforms for
NPC2

Expression for NPC2 Gene

mRNA expression in normal human tissues for NPC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NPC2 Gene

SOURCE GeneReport for Unigene cluster for NPC2 Gene Hs.433222

mRNA Expression by UniProt/SwissProt for NPC2 Gene

P61916-NPC2_HUMAN
Tissue specificity: Epididymis.
genes like me logo Genes that share expressions with NPC2: view

Orthologs for NPC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPC2 36
  • 99.78 (n)
  • 100 (a)
NPC2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NPC2 36
  • 83.67 (n)
  • 78.23 (a)
NPC2 37
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NPC2 36
  • 84.81 (n)
  • 80.95 (a)
NPC2 37
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Npc2 36
  • 80.09 (n)
  • 81.21 (a)
Npc2 16
Npc2 37
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPC2 37
  • 66 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Npc2 36
  • 81.95 (n)
  • 82.71 (a)
chicken
(Gallus gallus)
Aves NPC2 36
  • 67.65 (n)
  • 72.06 (a)
NPC2 37
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPC2 37
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npc2 36
  • 61.79 (n)
  • 62.31 (a)
zebrafish
(Danio rerio)
Actinopterygii npc2 36
  • 61.83 (n)
  • 64.12 (a)
npc2 37
  • 58 (a)
OneToMany
NPC2 (2 of 2) 37
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Npc2a 36
  • 49.87 (n)
  • 37.98 (a)
Npc2a 37
  • 35 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 45 (a)
OneToMany
-- 37
  • 45 (a)
OneToMany
Species with no ortholog for NPC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPC2 Gene

ENSEMBL:
Gene Tree for NPC2 (if available)
TreeFam:
Gene Tree for NPC2 (if available)

Paralogs for NPC2 Gene

No data available for Paralogs for NPC2 Gene

Variants for NPC2 Gene

Sequence variations from dbSNP and Humsavar for NPC2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs4688 - 74,484,521(-) CTTTC(C/T)CATTC reference, missense
rs11694 Pathogenic, Niemann-Pick disease C2 (NPC2) 74,484,579(-) TTCAG(C/T)CTAAA missense, reference
rs917394 -- 74,485,835(-) AGAAA(C/T)AGCCA intron-variant
rs2302116 -- 74,484,300(-) TGAAG(A/C)AGAAG intron-variant
rs3047735 -- 74,489,552(+) TGTGT(C/G)TCTGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPC2 Gene

Variant ID Type Subtype PubMed ID
nsv832829 CNV Loss 17160897
nsv902099 CNV Loss 21882294

Relevant External Links for NPC2 Gene

HapMap Linkage Disequilibrium report
NPC2
Human Gene Mutation Database (HGMD)
NPC2

Disorders for NPC2 Gene

(1) OMIM Diseases for NPC2 Gene (601015)

UniProtKB/Swiss-Prot

NPC2_HUMAN
  • Niemann-Pick disease C2 (NPC2) [MIM:607625]: A lysosomal storage disorder that affects the viscera and the central nervous system. It is due to defective intracellular processing and transport of low-density lipoprotein derived cholesterol. It causes accumulation of cholesterol in lysosomes, with delayed induction of cholesterol homeostatic reactions. Niemann-Pick disease type C2 has a highly variable clinical phenotype. Clinical features include variable hepatosplenomegaly and severe progressive neurological dysfunction such as ataxia, dystonia and dementia. The age of onset can vary from infancy to late adulthood. {ECO:0000269 PubMed:11125141, ECO:0000269 PubMed:11567215, ECO:0000269 PubMed:12447927, ECO:0000269 PubMed:12955717, ECO:0000269 PubMed:15937921, ECO:0000269 PubMed:16126423}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for NPC2 Gene

(8) Novoseek inferred disease relationships for NPC2 Gene

Disease -log(P) Hits PubMed IDs
niemann-picks disease type c 96.1 21
niemann-pick disease, type c2 90 1
niemann-pick diseases 74.7 1
lipidosis 72.3 2
cataplexy 51 1

Relevant External Links for NPC2

GeneTests
NPC2
GeneReviews
NPC2
Genetic Association Database (GAD)
NPC2
Human Genome Epidemiology (HuGE) Navigator
NPC2
genes like me logo Genes that share disorders with NPC2: view

Publications for NPC2 Gene

  1. Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs. (PMID: 8418812) Krull N. … Kirchhoff C. (Mol. Reprod. Dev. 1993) 2 3 4 23
  2. Identification of HE1 as the second gene of Niemann-Pick C disease. (PMID: 11125141) Naureckiene S. … Lobel P. (Science 2000) 2 3 4 23
  3. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. (PMID: 11567215) Millat G. … Vanier M.T. (Am. J. Hum. Genet. 2001) 3 4 23
  4. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. (PMID: 12447927) Klunemann H.H. … Pendlebury W.W. (Ann. Neurol. 2002) 3 4 23
  5. In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two- hybrid system. (PMID: 15110773) Kharel Y. … Koyama T. (Biochem. Biophys. Res. Commun. 2004) 3 4 23

Products for NPC2 Gene

Sources for NPC2 Gene

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