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; 2 zebrafish

Protein SuperFamily: epididymal secretory protein E1 precursor
Gene Tree: Npc2

Human homologs

Human Homolog		NPC2, Niemann-Pick disease, type C2
NCBI Gene ID		10577
neXtProt AC		NX_P61916
Human Synonyms		EDDM1, HE1
Human Chr (Location)		14q24.3; chr14:74946643-74960084 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human NPC2

Alleles and phenotypes

All alleles(19) : Targeted(4) Gene trapped(15)
 

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 Using Mouse Npc2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)

Gene Ontology (GO) classifications

All GO classifications: (22 annotations)

Process	cholesterol efflux, cholesterol homeostasis, ...
Component	endoplasmic reticulum, extracellular region, ...
Function	cholesterol binding, enzyme binding

External Resources: FuncBase

Expression

Literature Summary: (2 records)
Data Summary: Results (131)    Tissues (20)    Images (22)
Theiler Stages: 22, 23, 24

Assay Type	Results
RNA in situ	131

cDNA source data(388)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(388) cDNA(388)
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 Knockout Project Status	Npc2

Sequences

Length	Strain/Species
genomic	ENSMUSG00000021242	Ensembl Gene Model | MGI Sequence Detail	18553	C57BL/6J
transcript	ENSMUST00000021668	Ensembl | MGI Sequence Detail	3261	Not Applicable
polypeptide	ENSMUSP00000021668	Ensembl | MGI Sequence Detail	149	Not Applicable

All sequences(57) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(92 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR014756	Immunoglobulin E-set
InterPro	IPR003172	MD-2-related lipid-recognition
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:185098 Boadu E, et al., ABCA1-dependent mobilization of lysosomal cholesterol requires functional Niemann-Pick C2 but not Niemann-Pick C1 protein. Biochim Biophys Acta. 2012 Mar;1821(3):396-404
All references(55)

Other accession IDs

MGI:2144722, MGI:2144970