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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
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr12:84801333-84819886 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 12, 39.37 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    583 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 Chr12:84801333-84819926 (-)
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
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NPC2, NPC intracellular cholesterol transporter 2
  • Synonyms
    EDDM1, HE1
  • Links
    NCBI Gene ID: 10577
    neXtProt AC: NX_P61916
    UniProt: P61916

  • Chr Location
    14q24.3; chr14:74476192-74494177 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Npc2 mouse models; 2 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
less
  • Phenotype Summary
    32 phenotypes from 3 alleles in 7 genetic backgrounds
    6 phenotypes from multigenic genotypes
    1 images
    31 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
less
  • All GO Annotations
    33
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    838
  • Tissues
    21
  • cDNA Data
    393
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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 84
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 13
      Phenotypes 31
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory