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Npc2
Gene Detail
Symbol

Name
ID
Npc2
Niemann-Pick type C2
MGI:1915213
Synonyms
2700012J19Rik, HE1
Feature Type
protein coding gene
Genetic Map
Chromosome 12
39.37 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr12:84754560-84773112 bp, - strand
From Ensembl annotation of GRCm38

  18553 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4697  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: NPC2
Protein SuperFamily: epididymal secretory protein E1 precursor
Gene Tree: Npc2

Human
homologs
NPC2, Niemann-Pick disease, type C2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 10577
neXtProt AC: NX_P61916

Human Synonyms: EDDM1, HE1

Human Chr (Location): 14q24.3; chr14:74479940-74493381 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human NPC2

Mutations,
alleles, and
phenotypes
All mutations/alleles(20) : Gene trapped(15) Targeted(5)
Incidental mutations (data from Mutagenetix )
 
Homozygotes for a hypomorphic allele exhibit tremors, ataxia, weight loss, changes in lipid homeostasis, NK and T cell physiology, abnormal lysosome morphology, reduced NK cell number, Purkinje cell loss, and premature death. Homozygotes for a gene-trap allele show an identical immune phenotype.
 
Human Diseases Modeled in Mice Using Npc2 (2)    Mutations Annotated to Human Diseases (1)    Phenotype Images(1)
Interactions
Npc2 interacts with 251 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process cholesterol efflux, cholesterol homeostasis, ...
Component cell, endoplasmic reticulum, ...
Function cholesterol binding, enzyme binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (131)    Tissues (20)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 131
cDNA source data(392)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase npc2 ; ZFIN npc2    NEW 
Molecular
reagents
All nucleic(392) cDNA(392)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000021242 (Evidence)
Entrez Gene 67963 (Evidence)
UniGene 282556
DFCI TC1573915, TC1605892, TC1636432, TC1650642
DoTS DT.40154991, DT.496534, DT.91334109, DT.94277908
Consensus CDS Project CCDS26050.1
International Mouse Phenotyping Consortium Status Npc2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000021242 Ensembl Gene Model | MGI Sequence Detail 18553 C57BL/6J ±  kb
transcript ENSMUST00000021668 Ensembl | MGI Sequence Detail 3261 Not Applicable 
polypeptide ENSMUSP00000021668 Ensembl | MGI Sequence Detail 149 Not Applicable 

For the selected sequences
All sequences(57) RefSeq(2) UniProt(4)
Polymorphisms
SNPs within 2kb(99 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR014756 Immunoglobulin E-set
InterPro IPR003172 MD-2-related lipid-recognition (ML) domain
Protein Ontology PR:000011357 epididymal secretory protein E1
References
(Earliest) J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
(Latest) J:211602 Adachi T, et al., Niemann-Pick disease type C2 protein induces triglyceride accumulation in silkworm and mammalian cell lines. Biochem J. 2014 Apr 1;459(1):137-47
All references(59)
Disease annotation references (3)
Other
accession IDs
MGI:2144722, MGI:2144970

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory