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Npc2 Gene Detail
Summary
  • Symbol
    Npc2
  • Name
    NPC intracellular cholesterol transporter 2
  • Synonyms
    2700012J19Rik, HE1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1915213
    NCBI Gene: 67963
  • Alliance
  • Transcription Start Sites
    10 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:84754559-84773112 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 12, 39.37 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    99 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1915213
protein coding gene Chr12:84754559-84773152 (-)
129S1/SvImJ MGP_129S1SvImJ_G0019944
protein coding gene Chr12:85493515-85512070 (-)
A/J MGP_AJ_G0019901
protein coding gene Chr12:82252663-82271222 (-)
AKR/J MGP_AKRJ_G0019877
protein coding gene Chr12:84476183-84494737 (-)
BALB/cJ MGP_BALBcJ_G0019881
protein coding gene Chr12:82583284-82601806 (-)
C3H/HeJ MGP_C3HHeJ_G0019687
protein coding gene Chr12:84947282-84966818 (-)
C57BL/6NJ MGP_C57BL6NJ_G0020332
protein coding gene Chr12:87959571-87978121 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0017950
protein coding gene Chr12:79140651-79159309 (-)
CAST/EiJ MGP_CASTEiJ_G0019236
protein coding gene Chr12:79912590-79934603 (-)
CBA/J MGP_CBAJ_G0019658
protein coding gene Chr12:91346992-91365511 (-)
DBA/2J MGP_DBA2J_G0019773
protein coding gene Chr12:81769001-81787850 (-)
FVB/NJ MGP_FVBNJ_G0019759
protein coding gene Chr12:80730374-80749264 (-)
LP/J MGP_LPJ_G0019845
protein coding gene Chr12:85368517-85387069 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0019798
protein coding gene Chr12:94234639-94253197 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0020366
protein coding gene Chr12:84080997-84101338 (-)
PWK/PhJ MGP_PWKPhJ_G0019000
protein coding gene Chr12:76258396-76278022 (-)
SPRET/EiJ MGP_SPRETEiJ_G0018795
protein coding gene Chr12:78553652-78572216 (-)
WSB/EiJ MGP_WSBEiJ_G0019288
protein coding gene Chr12:84793675-84813173 (-)



Homology
more
  • Human Ortholog
    NPC2, NPC intracellular cholesterol transporter 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    NPC2, NPC intracellular cholesterol transporter 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EDDM1, HE1
  • Links
    NCBI Gene ID: 10577
    neXtProt AC: NX_P61916
    UniProt: P61916

  • Chr Location
    14q24.3; chr14:74479940-74493475 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Npc2 mouse models; 1 with human NPC2 associations

Human Disease Mouse Models
      
IDs
View 3 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 3 alleles in 7 genetic backgrounds
    6 phenotypes from multigenic genotypes
    1 images
    26 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67963 NCBI Gene Model | MGI Sequence Detail 18554 C57BL/6J ±  kb
    transcript NM_023409 RefSeq | MGI Sequence Detail 3278 C57BL/6  
    polypeptide Q9Z0J0 UniProt | EBI | MGI Sequence Detail 149 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 393
      cDNA 393

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:2144722, MGI:2144970
    References
    more
    • Summaries
      All 75
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 10
      Phenotypes 26
    • 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:269608 Markmann S, et al., Attenuation of the Niemann-Pick type C2 disease phenotype by intracisternal administration of an AAVrh.10 vector expressing Npc2. Exp Neurol. 2018 Aug;306:22-33

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    last database update
    11/05/2019
    MGI 6.14
    The Jackson Laboratory