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 more...

Aliases for NPC2 Gene

Aliases for NPC2 Gene

  • NPC Intracellular Cholesterol Transporter 2 2 3 4 5
  • Niemann-Pick Disease Type C2 Protein 3 4
  • Human Epididymis-Specific Protein 1 3 4
  • Epididymal Protein 1 2 3
  • HE1 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • Tissue-Specific Secretory Protein 3
  • Epididymal Secretory Protein E1 4
  • Niemann-Pick Disease, Type C2 2
  • EDDM1 3
  • He1 4

External Ids for NPC2 Gene

Previous GeneCards Identifiers for NPC2 Gene

  • GC14M072473
  • GC14M068764
  • GC14M072936
  • GC14M074016
  • GC14M074943
  • GC14M055115

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 (NPC Intracellular Cholesterol Transporter 2) is a Protein Coding gene. Diseases associated with NPC2 include Niemann-Pick Disease, Type C2 and Niemann-Pick Disease, Type C1. Among its related pathways are Lipoprotein metabolism and Innate Immune System. Gene Ontology (GO) annotations related to this gene include enzyme binding and cholesterol binding.

UniProtKB/Swiss-Prot Summary for NPC2 Gene

  • Intracellular cholesterol transporter which acts in concert with NPC1 and plays an important role in the egress of cholesterol from the lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017). May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126). NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531). Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity).

Additional gene information for NPC2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NPC2 Gene

Genomics for NPC2 Gene

GeneHancer (GH) Regulatory Elements for NPC2 Gene

Promoters and enhancers for NPC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NPC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NPC2

Top Transcription factor binding sites by QIAGEN in the NPC2 gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • Elk-1

Genomic Locations for NPC2 Gene

Genomic Locations for NPC2 Gene
chr14:74,476,192-74,494,177
(GRCh38/hg38)
Size:
17,986 bases
Orientation:
Minus strand
chr14:74,942,895-74,960,880
(GRCh37/hg19)
Size:
17,986 bases
Orientation:
Minus strand

Genomic View for NPC2 Gene

Genes around NPC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPC2 Gene

Proteins for NPC2 Gene

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

    Protein Symbol:
    P61916-NPC2_HUMAN
    Recommended name:
    NPC intracellular cholesterol transporter 2
    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 NPC1 (via the second lumenal domain) in a cholestrol-dependent manner (PubMed:18772377, PubMed:27238017, PubMed:27551080). Interacts with NUS1/NgBR, the interaction stabilizes NCP2 and regulates cholesterol trafficking (PubMed:19723497). Interacts with DHDDS (PubMed:15110773). Interacts with NEDD4L (via C2 domain) (PubMed:19664597). Interacts with NPC1L1 (PubMed:22095670).

    Three dimensional structures from OCA and Proteopedia for NPC2 Gene

    Alternative splice isoforms for NPC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NPC2 Gene

Post-translational modifications for NPC2 Gene

  • Glycosylation at Asn58 and Asn135
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for NPC2 Gene

Domains & Families for NPC2 Gene

Gene Families for NPC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for NPC2 Gene

Suggested Antigen Peptide Sequences for NPC2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51947, highly similar to Epididymal secretory protein E1 (B4DQV7_HUMAN)
  • Niemann-Pick disease type C2 protein (NPC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61916

UniProtKB/Swiss-Prot:

NPC2_HUMAN :
  • Binds cholesterol in a hydrophobic pocket; there are no hydrogen bonds between the sterol and the protein.
  • Belongs to the NPC2 family.
Domain:
  • Binds cholesterol in a hydrophobic pocket; there are no hydrogen bonds between the sterol and the protein.
Family:
  • Belongs to the NPC2 family.
genes like me logo Genes that share domains with NPC2: view

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 lysosomal compartment (PubMed:17018531, PubMed:11125141, PubMed:18772377, PubMed:29580834, PubMed:15937921). Unesterified cholesterol that has been released from LDLs in the lumen of the late endosomes/lysosomes is transferred by NPC2 to the cholesterol-binding pocket in the N-terminal domain of NPC1 (PubMed:17018531, PubMed:18772377, PubMed:27238017). May bind and mobilize cholesterol that is associated with membranes (PubMed:18823126). NPC2 binds cholesterol with a 1:1 stoichiometry (PubMed:17018531). Can bind a variety of sterols, including lathosterol, desmosterol and the plant sterols stigmasterol and beta-sitosterol (PubMed:17018531). The secreted form of NCP2 regulates biliary cholesterol secretion via stimulation of ABCG5/ABCG8-mediated cholesterol transport (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:39748; Evidence=. ;.
UniProtKB/Swiss-Prot Induction:
Down-regulated in response to enterovirus 71 (EV71) infection.

Phenotypes From GWAS Catalog for NPC2 Gene

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,IEA 17018531
GO:0019899 enzyme binding IPI 15110773
GO:0032934 sterol binding IBA 21873635
GO:0120020 intermembrane cholesterol transfer activity IDA 18772377
genes like me logo Genes that share ontologies with NPC2: view
genes like me logo Genes that share phenotypes with NPC2: view

Human Phenotype Ontology for NPC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NPC2 Gene

MGI Knock Outs for NPC2:
  • Npc2 Npc2<tm1Plob>
  • Npc2 Npc2<tm1e.1(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

miRNA for NPC2 Gene

miRTarBase miRNAs that target NPC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPC2

Clone Products

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

Localization for NPC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPC2 Gene

Secreted. Endoplasmic reticulum. Lysosome. Note=Interaction with cell-surface M6PR mediates endocytosis and targeting to lysosomes. {ECO:0000305 PubMed:11125141}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPC2 gene
Compartment Confidence
extracellular 5
lysosome 5
endoplasmic reticulum 4
endosome 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for NPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IMP 15937921
GO:0005623 cell IEA --
GO:0005764 lysosome IDA,IEA 11125141
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with NPC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NPC2 Gene

Pathways & Interactions for NPC2 Gene

PathCards logo

SuperPathways for NPC2 Gene

SuperPathway Contained pathways
1 Innate Immune System
2 Lipoprotein metabolism
3 Metabolism
4 Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
.01
-
5 Statin Pathway
genes like me logo Genes that share pathways with NPC2: view

Pathways by source for NPC2 Gene

2 GeneGo (Thomson Reuters) pathways for NPC2 Gene
  • Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
  • Cholesterol and Sphingolipids transport / Generic schema (normal and CF)

Gene Ontology (GO) - Biological Process for NPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006869 lipid transport IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process IEA --
GO:0009615 response to virus IEP 16548883
genes like me logo Genes that share ontologies with NPC2: view

No data available for SIGNOR curated interactions for NPC2 Gene

Drugs & Compounds for NPC2 Gene

(6) Drugs for NPC2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(518) Additional Compounds for NPC2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-dehydro-D-Sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-amino-1-Hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with NPC2: view

Transcripts for NPC2 Gene

mRNA/cDNA for NPC2 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NPC2

Clone Products

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

Expression for NPC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NPC2 Gene

Protein differential expression in normal tissues from HIPED for NPC2 Gene

This gene is overexpressed in Amniocyte (27.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NPC2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NPC2

SOURCE GeneReport for Unigene cluster for NPC2 Gene:

Hs.433222

mRNA Expression by UniProt/SwissProt for NPC2 Gene:

P61916-NPC2_HUMAN
Tissue specificity: Detected in gallbladder bile (PubMed:21315718). Detected in fibroblasts, kidney, liver, spleen, small intestine, placenta and testis (at protein level) (PubMed:11125141). Epididymis.

Evidence on tissue expression from TISSUES for NPC2 Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Lung(3.9)
  • Pancreas(3.8)
  • Skin(3.4)
  • Eye(2.9)
  • Blood(2.5)
  • Spleen(2.5)
  • Bone marrow(2.4)
  • Kidney(2.3)
  • Thyroid gland(2.3)
  • Gall bladder(2.2)
  • Intestine(2.2)
  • Lymph node(2.2)
  • Stomach(2.2)
  • Adrenal gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NPC2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • mouth
  • pharynx
Thorax:
  • esophagus
  • lung
Abdomen:
  • liver
  • spleen
  • stomach
Pelvis:
  • pelvis
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with NPC2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for NPC2 Gene

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 31 30
  • 99.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NPC2 31 30
  • 84.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NPC2 31 30
  • 83.67 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Npc2 30
  • 81.95 (n)
mouse
(Mus musculus)
Mammalia Npc2 17 31 30
  • 80.09 (n)
oppossum
(Monodelphis domestica)
Mammalia NPC2 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPC2 31 30
  • 67.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPC2 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npc2 30
  • 61.79 (n)
zebrafish
(Danio rerio)
Actinopterygii npc2 31 30
  • 61.83 (n)
OneToMany
NPC2 (2 of 2) 31
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Npc2a 31 30
  • 49.87 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
Species where no ortholog for NPC2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NPC2: view image

Paralogs for NPC2 Gene

No data available for Paralogs for NPC2 Gene

Variants for NPC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NPC2 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
594094 Uncertain Significance: not provided 74,484,426(-) C/T MISSENSE_VARIANT
598435 Uncertain Significance: not provided 74,484,538(-) G/A SYNONYMOUS_VARIANT
643285 Pathogenic: Niemann-Pick disease type C2 74,493,195(-) C/CA FRAMESHIFT_VARIANT
680698 Benign: not provided 74,484,297(-) T/TCTG INTRON_VARIANT
680699 Benign: not provided 74,484,261(-) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for NPC2 Gene

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

Variant ID Type Subtype PubMed ID
esv3634943 CNV gain 21293372
nsv832829 CNV loss 17160897

Variation tolerance for NPC2 Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.64; 13.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NPC2 Gene

Human Gene Mutation Database (HGMD)
NPC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPC2 Gene

Disorders for NPC2 Gene

MalaCards: The human disease database

(33) MalaCards diseases for NPC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

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, ECO:0000269 PubMed:18772377}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NPC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NPC2: view

No data available for Genatlas for NPC2 Gene

Publications for NPC2 Gene

  1. Identification of HE1 as the second gene of Niemann-Pick C disease. (PMID: 11125141) Naureckiene S … Lobel P (Science (New York, N.Y.) 2000) 2 3 4 23 54
  2. 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 (Molecular reproduction and development 1993) 2 3 4 23 54
  3. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. (PMID: 19252935) Fancello T … Filocamo M (Neurogenetics 2009) 3 23 41 54
  4. Regulation of sterol transport between membranes and NPC2. (PMID: 18823126) Xu Z … Storch J (Biochemistry 2008) 3 4 23 54
  5. NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols. (PMID: 17018531) Liou HL … Lobel P (The Journal of biological chemistry 2006) 3 4 23 54

Products for NPC2 Gene

Sources for NPC2 Gene