Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



NPC2 Gene

protein-coding   GIFtS: 64
GCID: GC14M074943

Niemann-Pick Disease, Type C2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Niemann-Pick Disease, Type C21 2     EDDM12
HE12 3 5     Epididymal Secretory Protein E12
Epididymal Protein 11 2     Tissue-Specific Secretory Protein2
Human Epididymis-Specific Protein 12 3     He13
Niemann-Pick Disease Type C2 Protein2 3     

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


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

TryGeneCards Plus

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 c, late infantile neurologic onset, and niemann-pick disease type c, severe perinatal form. GO annotations related to this gene include cholesterol binding and enzyme binding.

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




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   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 plasmidNPC2 promoter sequence
   Search Chromatin IP Primers for NPC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
About This Section

TryGeneCards Plus

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
Secondary accessions: Q15668 Q29413

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

Explore proteomics data for NPC2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn58, Asn135
  • Modification sites at PhosphoSitePlus

  • See NPC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    NPC2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NPC2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NPC2
    GenScript Custom Purified and Recombinant Proteins Services for NPC2
    Novus Biologicals NPC2 Proteins
    Novus Biologicals NPC2 Lysates
    Browse Sino Biological Recombinant Proteins
    Sino Biological Cell Lysate for NPC2
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPC2

    NPC2 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NPC2
    Browse R&D Systems for Antibodies
    OriGene Antibodies for NPC2
    OriGene Custom Antibody Services for NPC2
    Novus Biologicals NPC2 Antibodies
    Abcam antibodies for NPC2
    Cloud-Clone Corp. Antibodies for NPC2
    ThermoFisher Antibodies for NPC2
    LSBio Antibodies in human, mouse, rat for NPC2

    NPC2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NPC2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NPC2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NPC2
    Cloud-Clone Corp. CLIAs for NPC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    2 InterPro protein domains:
     IPR014756 Ig_E-set
     IPR003172 ML_dom

    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


    NPC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19664597
    GO:0015485cholesterol binding IDA17018531
    GO:0019899enzyme binding IPI15110773
         
    NPC2 for ontologies           About GeneDecksing


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

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

    NPC2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NPC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NPC2

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPC2:
    hsa-mir-92a-3p (MIRT049322)

    Block miRNA regulation of human, mouse, rat NPC2 using miScript Target Protectors
    5 qRT-PCR 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 plasmidNPC2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPC2
    Predesigned siRNA for gene silencing in human, mouse, rat NPC2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPC2

    Clone
    Products:
         
    OriGene clones in human, mouse for NPC2 (see all 7)
    OriGene ORF clones in mouse, rat for NPC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPC2 (NM_006432)
    Sino Biological Human cDNA Clone for NPC2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPC2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NPC2
    Browse ESI BIO Cell Lines and PureStem Progenitors for NPC2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    NPC2_HUMAN, P61916: Secreted. Endoplasmic reticulum. Lysosome
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular5
    lysosome5
    vacuole5
    endosome3
    nucleus2
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

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

    NPC2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for NPC2 About    
    See pathways by source

    SuperPathContained pathways About
    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
    Cholesterol and Sphingolipids transport Generic schema normal and CF 0.00
    2Lysosome
    Lysosome

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NPC2
    Interactions:

        GeneGlobe Interaction 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): Selected biological process terms (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



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

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

    Browse Tocris compounds for NPC2

    Selected 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 inferred 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)



    NPC2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat NPC2 using miScript Target Protectors
    5 qRT-PCR 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 plasmidNPC2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NPC2
    Predesigned siRNA for gene silencing in human, mouse, rat NPC2
    Clone
    Products:
         
    OriGene clones in human, mouse for NPC2 (see all 7)
    OriGene ORF clones in mouse, rat for NPC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NPC2 (NM_006432)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPC2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NPC2
    OriGene qSTAR qPCR primer pairs in human, mouse for NPC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPC2
      QuantiTect SYBR Green Assays in human, mouse, rat NPC2
      QuantiFast Probe-based Assays in human, mouse, rat NPC2

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 757):

    BU579683 AA335267 AW474473 BI825450 CA415132 AL525452 AI874018 CR622486 
    AA315748 AI758568 BF970136 BM352686 BP375864 CR601885 AA376737 AA031690 
    AV651342 BM771706 BM707681 CA437318 BU733216 BM838331 AI191868 BU681676 

    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

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    NPC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTCTTTTTC
    NPC2 Expression
    About this image


    NPC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Brain (Nervous System)
             Cerebellum
     
     Inner Cell Mass (Early Embryonic Tissues)
             Inner Cell Mass Cells Inner Cell Mass
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Endoderm (Gastrulation Derivatives)
             Endoderm-like cells
    NPC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.433222

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

        Custom PCR Arrays for NPC2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for NPC2
    OriGene qSTAR qPCR primer pairs in human, mouse for NPC2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPC2
    QuantiTect SYBR Green Assays in human, mouse, rat NPC2
    QuantiFast Probe-based Assays in human, mouse, rat NPC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC2

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for NPC2 gene from Selected species (see all 13)    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 67.65(n)
    72.06(a)
      423353  NM_001031203.1  NP_001026374.1 
    lizard
    (Anolis carolinensis)
    Reptilia NPC26
    Niemann-Pick disease, type C2
    66(a)
    1 ↔ 1
    1(23119384-23135168)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC060392.12   -- 71.21(n)    BC060392.1 
    zebrafish
    (Danio rerio)
    Actinopterygii npc21 Niemann-Pick disease, type C2 61.83(n)
    64.12(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_134793.5  NP_608637.1 


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

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

    TryGeneCards Plus
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for NPC2 (see all 361)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs116941,2,,4
    CNiemann-Pick disease C2 (NPC2)4 pathogenic155943266(-) TTCAGC/TCTAAA 2 P S mis10--------
    rs1512208731,2,,4
    C,FNiemann-Pick disease C2 (NPC2)4 --55945118(+) ATCCAC/TAGAAC 2 M V mis11Minor allele frequency- T:0.00NA 4290
    VAR_0433074
    Niemann-Pick disease C2 (NPC2)4--see VAR_0433072 P S mis40--------
    VAR_0433054
    Niemann-Pick disease C2 (NPC2)4--see VAR_0433052 C F mis40--------
    VAR_0433064
    Niemann-Pick disease C2 (NPC2)4--see VAR_0433062 C R mis40--------
    VAR_0433044
    Niemann-Pick disease C2 (NPC2)4--see VAR_0433042 C F mis40--------
    VAR_0158484
    Niemann-Pick disease C2 (NPC2)4--see VAR_0158482 V M mis40--------
    rs1048944571,2
    Cpathogenic155939392(-) CAGTAC/TAGATC 2 Q * stg10--------
    rs1048944581,2
    Cpathogenic155943107(-) AATATC/TCCTCT 2 P S mis10--------
    rs803582661,2
    Cpathogenic155943113(-) AAAGCG/TAATAT 2 E * stg10--------

    HapMap Linkage Disequilibrium report for NPC2 (74942895 - 74960880 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NPC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv902099CNV Loss21882294
    nsv832829CNV Loss17160897

    Human Gene Mutation Database (HGMD): NPC2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPC2
    DNA2.0 Custom Variant and Variant Library Synthesis for NPC2

    (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

    TryGeneCards Plus
    OMIM gene information: 601015   
    OMIM disorders: 607625  
    UniProtKB/Swiss-Prot: NPC2_HUMAN, P61916
  • Niemann-Pick disease 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for NPC2 (see all 25):    
    About MalaCards
    niemann-pick disease type c, late infantile neurologic onset    niemann-pick disease type c, severe perinatal form    niemann-pick disease type c, adult neurologic onset    niemann-pick disease type c2
    niemann-pick disease type c, juvenile neurologic onset    niemann-pick disease type c, severe early infantile neurologic onset    niemann-pick disease    epididymitis
    glycine n-methyltransferase deficiency    pick's disease    protein s deficiency    peripheral neuropathy
    papillary carcinoma    dementia    brain injury    rhabdomyosarcoma
    neuropathy    ataxia    alzheimer's disease    thyroiditis

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

    NPC2 for disorders           About GeneDecksing

    8 Novoseek inferred 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
    GeneReviews: NPC2
    Genetic Association Database (GAD): NPC2
    Human Genome Epidemiology (HuGE) Navigator: NPC2 (7 documents)

    Export disorders for NPC2 gene to outside databases

    (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

    TryGeneCards Plus

    PubMed articles for NPC2 gene, integrated from 10 sources (see all 120):
    (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. (Science 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. (Mol. Reprod. Dev. 1993)
    3. Regulation of sterol transport between membranes and NPC2. (PubMed id 18823126)1, 2, 9 Xu Z.... Storch J. (Biochemistry 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. (J. Biol. Chem. 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. (Hum. Mutat. 2005)
    6. Molecular analysis of NPC1 and NPC2 gene in 34 Niemann-Pick C Italian patients: identification and structural modeling of novel mutations. (PubMed id 19252935)1, 4, 9 Fancello T....Filocamo M. (Neurogenetics 2009)
    7. 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. (Am. J. Hum. Genet. 2001)
    8. 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. (Biochem. Biophys. Res. Commun. 2004)
    9. 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. (Ann. Neurol. 2002)
    10. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10577 HGNC: 14537 AceView: NPC2 Ensembl:ENSG00000119655 euGenes: HUgn10577
    ECgene: NPC2 Kegg: 10577 H-InvDB: NPC2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    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/books/NBK1116/?term=NPC2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     Browse Kits and Assays available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of NPC2
     Browse Purified and Recombinant Proteins at EMD Millipore
     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for NPC2   OriGene RNAi products in human, mouse, rat for NPC2  
     OriGene qPCR primer pairs and template standards for NPC2   OriGene Protein Over-expression Lysate for NPC2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for NPC2  
     OriGene qSTAR qPCR primer pairs in human, mouse for NPC2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for NPC2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for NPC2   OriGene Custom Protein Services for NPC2  

     
     
     Block miRNA regulation of human, mouse, rat NPC2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing NPC2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NPC2 Predesigned siRNA for gene silencing in human, mouse, rat NPC2
     QuantiFast Probe-based Assays in human, mouse, rat NPC2 QuantiTect SYBR Green Assays in human, mouse, rat NPC2
     Custom PCR Arrays for NPC2 Search Chromatin IP Primers for NPC2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NPC2  GeneGlobe Interaction Network for NPC2
     Regulatory tfbs in NPC2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for NPC2 GenScript cDNA clones with any tag delivered in your preferred vector for NPC2
     GenScript Custom Assay Services for NPC2 GenScript Custom overexpressing Cell Line Services for NPC2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for NPC2
     Browse Sino Biological Proteins
     Cell Lysates for NPC2
     cDNA Clones for NPC2
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     NPC2 antibodies
     NPC2 proteins
     NPC2 lysates
     Antibodies for NPC2
     See all of Abcam's Antibodies, Kits and Proteins for NPC2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for NPC2
     Antibodies for NPC2
     ELISAs for NPC2
     CLIAs for NPC2



     Browse ESI BIO Cell Lines and PureStem Progenitors for NPC2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPC2
     SwitchGear 3'UTR luciferase reporter plasmids for NPC2
     SwitchGear Promoter luciferase reporter plasmids for NPC2
     ThermoFisher Antibodies for NPC2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPC2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPC2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NPC2
     LSBio Antibodies in human, mouse, rat for NPC2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      NPC2 gene at Home site.
    Version: 3.12.162 20 Aug 2014
    hostname: 356980-web2.xennexinc.com index build: 126 solr: 1.4