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NPC2 (NPC intracellular cholesterol transporter 2)

Identity

Alias_namesNiemann-Pick disease
Alias_symbol (synonym)HE1
NP-C2
EDDM1
Other alias
HGNC (Hugo) NPC2
LocusID (NCBI) 10577
Atlas_Id 56443
Location 14q24.3  [Link to chromosome band 14q24]
Fusion genes
(updated 2016)
DDX47 (12p13.1) / NPC2 (14q24.3)DNAJC3 (13q32.1) / NPC2 (14q24.3)NPC2 (14q24.3) / C12orf66 (12q14.2)
NPC2 (14q24.3) / NPC2 (14q24.3)NPC2 (14q24.3) / RAD51B (14q24.1)NPC2 (14q24.3) / SRI (7q21.12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NPC2   14537
Cards
Entrez_Gene (NCBI)NPC2  10577  NPC intracellular cholesterol transporter 2
AliasesEDDM1; HE1
GeneCards (Weizmann)NPC2
Ensembl hg19 (Hinxton)ENSG00000119655 [Gene_View]  - [Contig_View]  NPC2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000119655 [Gene_View]  - [Contig_View]  NPC2 [Vega]
ICGC DataPortalENSG00000119655
TCGA cBioPortalNPC2
AceView (NCBI)NPC2
Genatlas (Paris)NPC2
WikiGenes10577
SOURCE (Princeton)NPC2
Genetics Home Reference (NIH)NPC2
Genomic and cartography
GoldenPath hg19 (UCSC)NPC2  -  
GoldenPath hg38 (UCSC)NPC2  -  
EnsemblNPC2 - [CytoView hg19]  NPC2 - [CytoView hg38]
Mapping of homologs : NCBINPC2 [Mapview hg19]  NPC2 [Mapview hg38]
OMIM601015   607625   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_006432
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPC2
Cluster EST : UnigeneHs.433222 [ NCBI ]
CGAP (NCI)Hs.433222
Alternative Splicing GalleryENSG00000119655
Gene ExpressionNPC2 [ NCBI-GEO ]   NPC2 [ EBI - ARRAY_EXPRESS ]   NPC2 [ SEEK ]   NPC2 [ MEM ]
Gene Expression Viewer (FireBrowse)NPC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10577
GTEX Portal (Tissue expression)NPC2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP61916   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP61916  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP61916
Splice isoforms : SwissVarP61916
PhosPhoSitePlusP61916
Domains : Interpro (EBI)Ig_E-set    ML_dom   
Domain families : Pfam (Sanger)E1_DerP2_DerF2 (PF02221)   
Domain families : Pfam (NCBI)pfam02221   
Domain families : Smart (EMBL)ML (SM00737)  
Conserved Domain (NCBI)NPC2
DMDM Disease mutations10577
Blocks (Seattle)NPC2
SuperfamilyP61916
Human Protein AtlasENSG00000119655
Peptide AtlasP61916
HPRD03008
IPIIPI00940960   IPI01013446   IPI00301579   IPI01026287   IPI01026053   IPI01025680   IPI01025459   IPI01025295   IPI01025402   
Protein Interaction databases
DIP (DOE-UCLA)P61916
IntAct (EBI)P61916
FunCoupENSG00000119655
BioGRIDNPC2
STRING (EMBL)NPC2
ZODIACNPC2
Ontologies - Pathways
QuickGOP61916
Ontology : AmiGOprotein binding  lysosome  endoplasmic reticulum  cholesterol metabolic process  response to virus  cholesterol binding  phospholipid transport  regulation of isoprenoid metabolic process  enzyme binding  cholesterol transport  intracellular sterol transport  intracellular cholesterol transport  intracellular cholesterol transport  cholesterol efflux  cholesterol homeostasis  glycolipid transport  extracellular exosome  
Ontology : EGO-EBIprotein binding  lysosome  endoplasmic reticulum  cholesterol metabolic process  response to virus  cholesterol binding  phospholipid transport  regulation of isoprenoid metabolic process  enzyme binding  cholesterol transport  intracellular sterol transport  intracellular cholesterol transport  intracellular cholesterol transport  cholesterol efflux  cholesterol homeostasis  glycolipid transport  extracellular exosome  
Pathways : KEGGLysosome   
NDEx NetworkNPC2
Atlas of Cancer Signalling NetworkNPC2
Wikipedia pathwaysNPC2
Orthology - Evolution
OrthoDB10577
GeneTree (enSembl)ENSG00000119655
Phylogenetic Trees/Animal Genes : TreeFamNPC2
HOVERGENP61916
HOGENOMP61916
Homologs : HomoloGeneNPC2
Homology/Alignments : Family Browser (UCSC)NPC2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPC2
dbVarNPC2
ClinVarNPC2
1000_GenomesNPC2 
Exome Variant ServerNPC2
ExAC (Exome Aggregation Consortium)NPC2 (select the gene name)
Genetic variants : HAPMAP10577
Genomic Variants (DGV)NPC2 [DGVbeta]
DECIPHER (Syndromes)-  ENSG00000119655
CONAN: Copy Number AnalysisNPC2 
Mutations
ICGC Data PortalNPC2 
TCGA Data PortalNPC2 
Broad Tumor PortalNPC2
OASIS PortalNPC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPC2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPC2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch NPC2
DgiDB (Drug Gene Interaction Database)NPC2
DoCM (Curated mutations)NPC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPC2 (select a term)
intoGenNPC2
Cancer3DNPC2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601015    607625   
Orphanet18801    18803    18802    18805    18804   
MedgenNPC2
Genetic Testing Registry NPC2
NextProtP61916 [Medical]
TSGene10577
GENETestsNPC2
Huge Navigator NPC2 [HugePedia]
snp3D : Map Gene to Disease10577
BioCentury BCIQNPC2
ClinGenNPC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10577
Chemical/Pharm GKB GenePA31700
Clinical trialNPC2
Miscellaneous
canSAR (ICR)NPC2 (select the gene name)
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPC2
EVEXNPC2
GoPubMedNPC2
iHOPNPC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:19:11 CET 2017

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