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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NPC2 Gene

protein-coding   GIFtS: 57
GCID: GC14M074943

Niemann-Pick disease, type C2
 Explore 18 diseases affiliated with
NPC2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NPC2    

Aliases
for NPC2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Niemann-Pick Disease, Type C21 2     NP-C21
HE11 2 3 5     Epididymal Protein 12
EDDM11 2     Epididymal Secretory Protein E12
Human Epididymis-Specific Protein 12 3     Tissue-Specific Secretory Protein2
Niemann-Pick Disease Type C2 Protein2 3     He13

External Ids:    HGNC: 145371   Entrez Gene: 105772   Ensembl: ENSG000001196557   OMIM: 6010155   UniProtKB: P619163   

Export aliases for NPC2 gene to outside databases

Previous GC identifers: GC14M072473 GC14M068764 GC14M072936 GC14M074016 GC14M055115


Summaries
for NPC2 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NPC2:
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)

UniProtKB/Swiss-Prot: NPC2_HUMAN, P61916
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




Genomic Views
for NPC2 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NPC2 gene promoter:
         c-Fos   Elk-1   AP-1   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NPC2 promoter sequence
   Search SABiosciences Chromatin IP Primers for NPC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NPC2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

NPC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NPC2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M074943:  view genomic region     (about GC identifiers)

Start:
 74,942,895 bp from pter      End:
 74,960,880 bp from pter
Size:
 17,986 bases      Orientation:
 minus strand

Proteins
for NPC2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NPC2_HUMAN, P61916 (See protein sequence)
Recommended Name: Epididymal secretory protein E1 precursor  
Size: 151 amino acids; 16570 Da
Subunit: 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
Subcellular location: Secreted. Endoplasmic reticulum. Lysosome
Secondary accessions: Q15668 Q29413

Explore the universe of human proteins at neXtProt for NPC2: NX_P61916

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P61916

    • NPC2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006423.1  
    ENSEMBL proteins: 
     ENSP00000412103   ENSP00000442488   ENSP00000451112   ENSP00000451314   ENSP00000238633  
     ENSP00000451180   ENSP00000450502   ENSP00000451206   ENSP00000450887  

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    Novus Biologicals NPC2 Proteins
    Novus Biologicals NPC2 Lysates
    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for NPC2

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005622intracellular ----
    GO:0005764lysosome IDA11125141
    GO:0005783endoplasmic reticulum IEA--


    NPC2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NPC2

    Protein Domains /
    Families
    for NPC2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NPC2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR014756 Ig_E-set
     IPR003172 MD-2_lipid-recog

    Graphical View of Domain Structure for InterPro Entry P61916

    ProtoNet protein and cluster: P61916

    UniProtKB/Swiss-Prot: NPC2_HUMAN, P61916
    Similarity: Belongs to the NPC2 family


    Function
    for NPC2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: NPC2_HUMAN, P61916
    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
    Induction: Down-regulated in response to enterovirus 71 (EV71) infection

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NPC2
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate NPC2:
    hsa-miR-569 hsa-miR-298 hsa-miR-4272 hsa-miR-1827 hsa-miR-497*
    SwitchGear 3'UTR luciferase reporter plasmid: NPC2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPC2 

    Cell Line
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    Search LifeMap BioReagents cell lines for NPC2

    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0015485cholesterol binding IDA17018531
    GO:0019899enzyme binding IPI15110773


    NPC2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for NPC2:
     Decreased number of cells in m 

    Animal Models:
         9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Npc2):
     behavior/neurological  cellular  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  liver/biliary system  mortality/aging  nervous system 

    NPC2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NPC2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)
    		Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF)1.00
    2Lysosome
    		Lysosome1.00
    3Cholesterol and Sphingolipids transport / Generic schema (normal and CF)
    		Cholesterol and Sphingolipids transport / Generic schema (normal and CF)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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


    1         Kegg Pathway  (Kegg details for NPC2):
        Lysosome


    NPC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NPC2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for NPC2 (P619163 ENSP000002386334) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DHDDSQ86SQ93, ENSP000003531044I2D: score=2 STRING: ENSP00000353104
    PLSCR1O151623I2D: score=1 
    NPC1ENSP000002692284STRING: ENSP00000269228
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008203cholesterol metabolic process IEA--
    GO:0009615response to virus IEP16548883
    GO:0015914phospholipid transport TAS17018531
    GO:0019747regulation of isoprenoid metabolic process TAS15110773
    GO:0030301cholesterol transport IDA17018531


    NPC2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for NPC2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NPC2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NPC2

    10/519 HMDB Compounds for NPC2 (see all 519)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    6 Novoseek chemical compound relationships for NPC2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 70.4 130 16606609 (7), 18823126 (7), 15542393 (4), 16374838 (4) (see all 41)
    sterol 64.5 18 12398991 (3), 18823126 (3), 17018531 (2), 15030792 (1) (see all 10)
    glycolipid 50 4 14989468 (1), 16606609 (1), 12955717 (1)
    lipid 44.6 13 15071184 (2), 16757520 (2), 17314284 (1), 17003072 (1) (see all 9)
    ganglioside 25.6 2 14989468 (1)
    progesterone 0 2 16141411 (1), 16162941 (1)

    Search CenterWatch for drugs/clinical trials and news about NPC2 

    Transcripts
    for NPC2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NPC2 gene: 
    NM_006432.3  

    Unigene Cluster for NPC2:

    Niemann-Pick disease, type C2
    Hs.433222  [show with all ESTs]
    Unigene Representative Sequence: AK298975
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000434013 ENST00000541064 ENST00000555619(uc001xpy.3 uc010tus.2)
    ENST00000554482 ENST00000238633 ENST00000553490 ENST00000556009 ENST00000557510
    ENST00000555592

    miRNA
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    hsa-miR-569 hsa-miR-298 hsa-miR-4272 hsa-miR-1827 hsa-miR-497*
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK222474.1 AK298975.1 AK300879.1 AK311931.1 BC002532.2 X67698.1 

    19 DOTS entries:

    DT.80101106  DT.100890139  DT.100045448  DT.86842811  DT.100890141  DT.120749173  DT.100890143  DT.100890158 
    DT.100890130  DT.95168615  DT.100890134  DT.100890148  DT.95168614  DT.75174988  DT.95249588  DT.100890138 
    DT.120749226  DT.95168618  DT.120811742 

    24/757 AceView cDNA sequences (see all 757):

    BU579683 CB110100 CB267236 BQ268722 AA363112 CA414059 CR605546 AA335267 
    AL552612 CA413584 CA415312 BU626912 BE563526 BI824005 BM822459 BE536583 
    AI874018 BI825450 BU188235 AA748834 AI633237 CR622486 AL525452 CA415132 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NPC2    About this scheme

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


    ECgene alternative splicing isoforms for NPC2

    Expression
    for NPC2 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NPC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTCTTTTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NPC2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BrainMedulla OblongataBrain
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Endoderm-like cells (Generation of hepato...)

    See NPC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NPC2

    SOURCE GeneReport for Unigene cluster: Hs.433222

    UniProtKB/Swiss-Prot: NPC2_HUMAN, P61916
    Tissue specificity: Epididymis

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    In Situ
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    Orthologs
    for NPC2 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for NPC2 gene from 6/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Npc21 , 5 Niemann Pick type C21, 5 80.09(n)1
    81.21(a)1    		   12 (39.37 cM)5
    679631  NM_023409.41  NP_075898.11 
     847545605 
    chicken
    (Gallus gallus)    		 Aves NPC21 Niemann-Pick disease, type C2 68.56(n)
    73.05(a)    		   423353  NM_001031203.1  NP_001026374.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NPC26
    		 --
    		 64(a)
    		 1 ↔ 1
    		 1(23121693-23135168)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC060392.12   -- 71.21(n)    BC060392.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii npc21 Niemann-Pick disease, type C2 59.57(n)
    60.99(a)    		   282673  NM_173224.1  NP_775331.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Npc2a1 Niemann-Pick type C-2a 49.87(n)
    37.98(a)    		   33374  NM_134793.4  NP_608637.1 


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

    Paralogs
    for NPC2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for NPC2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/218 NCBI SNPs in NPC2 are shown (see all 218)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs803582601,2
    		Cpathogenic96688718(-) AGGCCG/TAACCG 2 E * stg11Minor allele frequency- T:0.00NA 4094
    rs803582611,2
    		Cpathogenic96695529(-) TGAATA/GTGAGC 2 M V mis10--------
    rs116941,2
    		Cpathogenic96697348(-) TTCAGC/TCTAAA 2 P S mis10--------
    rs1048944581,2
    		Cpathogenic96697507(-) AATATC/TCCTCT 2 P S mis10--------
    rs1048944571,2
    		Cpathogenic96701220(-) CAGTAC/TAGATC 2 Q * stg10--------
    rs791961711,2
    		F,--55114669(+) TCCAAG/TATTTA 1 -- ds50011Minor allele frequency- T:0.04WA 118
    rs1135877121,2
    		C,--55115134(+) CAAGAC/GTAAAT 1 -- ut310--------
    rs759361941,2
    		--55115158(+) AAGAGA/GCCACA 1 -- ut310--------
    rs102205031,2
    		C,F,H,--55115544(+) AGCAAC/ACTCCT 1 -- int111Minor allele frequency- A:0.03NS EA NA CSA WA 1212
    rs617385941,2
    		C,F,--55115789(+) ATTTAG/ATTTCA 1 -- int13Minor allele frequency- A:0.03NS WA 196

    HapMap Linkage Disequilibrium report for NPC2 (74942895 - 74960880 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NPC2: --
    Human Gene Mutation Database (HGMD): NPC2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NPC2
    DNA2.0 Custom Variant and Variant Library Synthesis for NPC2

    Disorders / Diseases
    for NPC2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NPC2 for disorders           About GeneDecksing

    OMIM gene information: 601015   
    OMIM disorders: 607625  
    UniProtKB/Swiss-Prot: NPC2_HUMAN, P61916
  • Defects in NPC2 are the cause of Niemann-Pick disease type C2 (NPDC2) [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

    18 diseases for NPC2:    About MalaCards
    niemann-pick disease type c2    niemann-pick disease    pick's disease    epididymitis
    cholesterol    brain injury    peripheral neuropathy    neurodegenerative disease
    papillary carcinoma    protein s deficiency    dementia    neuropathy
    rhabdomyosarcoma    alzheimer's disease    ataxia    thyroiditis
    carcinoma    neuronitis

    1 disease from the University of Copenhagen DISEASES database for NPC2:
    Niemann-Pick disease

    8 Novoseek disease relationships for NPC2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    niemann-picks disease type c 96.1 21 15542393 (2), 15937921 (2), 17314284 (1), 12606053 (1) (see all 19)
    niemann-pick disease, type c2 90 3 12591949 (1)
    niemann-pick diseases 74.7 5 18751914 (1)
    lipidosis 72.3 2 12606053 (1), 11525744 (1)
    cataplexy 51 1 14629910 (1)
    neurodegenerative diseases 44.5 6 12591949 (1), 17804599 (1), 20007703 (1), 18774957 (1)
    genetic disorder 9.82 1 15972801 (1)
    dementia 0 1 14629910 (1)

    GeneTests: NPC2
    Niemann-Pick Disease Type C

    Human Genome Epidemiology (HuGE) Navigator: NPC2 (7 documents)

    Export disorders for NPC2 gene to outside databases

    Publications
    for NPC2 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NPC2 gene, integrated from 9 sources (see all 113):
    (articles sorted by number of sources associating them with NPC2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of HE1 as the second gene of Niemann-Pick C disease. (PubMed id 11125141)1, 2, 3, 9 Naureckiene S.... Lobel P. (2000)
    2. Region-specific variation of gene expression in the human epididymis as revealed by in situ hybridization with tissue-specific cDNAs. (PubMed id 8418812)1, 2, 3, 9 Krull N.... Kirchhoff C. (1993)
    3. Regulation of sterol transport between membranes and NPC2. (PubMed id 18823126)1, 2, 9 Xu Z....Storch J. (2008)
    4. NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols. (PubMed id 17018531)1, 2, 9 Liou H.L....Lobel P. (2006)
    5. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. (PubMed id 15937921)1, 2, 9 Chikh K....Millat G. (2005)
    6. Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. (PubMed id 11567215)1, 2, 9 Millat G.... Vanier M.T. (2001)
    7. In vivo interaction between the human dehydrodolichyl diphosphate synthase and the Niemann-Pick C2 protein revealed by a yeast two-hybrid system. (PubMed id 15110773)1, 2, 9 Kharel Y....Koyama T. (2004)
    8. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. (PubMed id 12447927)1, 2, 9 Klunemann H.H.... Pendlebury W.W. (2002)
    9. Identification of NPC2 protein as interaction molecul e with C2 domain of human Nedd4L. (PubMed id 19664597)1, 2 Araki N....Umemura S. (2009)
    10. Nogo-B receptor stabilizes Niemann-Pick type C2 prote in and regulates intracellular cholesterol trafficking. (PubMed id 19723497)1, 2 Harrison K.D....Sessa W.C. (2009)

    External Searches for NPC2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing NPC2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10577 HGNC: 14537 AceView: NPC2 Ensembl:ENSG00000119655 euGenes: HUgn10577
    ECgene: NPC2 Kegg: 10577 H-InvDB: NPC2

    Other Databases showing NPC2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NPC2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NPC2 Pharmacogenomics, SNPs, Pathways
    Niemann-Pick type C disease gene variation databasehttp://npc.fzk.de
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NPC2

    Intellectual Property
    for NPC2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for NPC2 gene:
    Search GeneIP for patents involving NPC2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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