ENSMUSG00000021242


Mus musculus

Features
Gene ID: ENSMUSG00000021242
  
Biological name :Npc2
  
Synonyms : Epididymal secretory protein E1 / Npc2 / Q9Z0J0
  
Possible biological names infered from orthology : NPC intracellular cholesterol transporter 2 / P61916
  
Species: Mus musculus
  
Chr. number: 12
Strand: -1
Band: D1
Gene start: 84754562
Gene end: 84773152
  
Corresponding Affymetrix probe sets: 10401519 (MoGene1.0st)   1416901_at (Mouse Genome 430 2.0 Array)   1443266_at (Mouse Genome 430 2.0 Array)   1448513_a_at (Mouse Genome 430 2.0 Array)   1455768_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000021668
NCBI entrez gene - 67963     See in Manteia.
MGI - MGI:1915213
RefSeq - NM_023409
RefSeq Peptide - NP_075898
swissprot - Q9Z0J0
Ensembl - ENSMUSG00000021242
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 npc2ENSDARG00000090912Danio rerio
 zgc:193725ENSDARG00000096979Danio rerio
 NPC2ENSGALG00000010237Gallus gallus
 NPC2ENSG00000119655Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003172  MD-2-related lipid-recognition domain
 IPR014756  Immunoglobulin E-set
 IPR033916  ML domain, Npc2 like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0009615 response to virus IEA
 biological_processGO:0030301 cholesterol transport ISS
 biological_processGO:0032366 intracellular sterol transport ISS
 biological_processGO:0032367 intracellular cholesterol transport IMP
 biological_processGO:0033344 cholesterol efflux IMP
 biological_processGO:0042632 cholesterol homeostasis IEA
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005615 extracellular space IDA
 cellular_componentGO:0005764 lysosome ISS
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 molecular_functionGO:0015485 cholesterol binding ISS
 molecular_functionGO:0017127 cholesterol transporter activity IEA
 molecular_functionGO:0019899 enzyme binding IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation
LDL clearance


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000685 abnormal immune system morphology "morphological anomalies in the organs or cells associated with the development and formation of lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Npc2tm1Plob/Npc2tm1Plob
Genetic Background: C.129S1-Npc2tm1Plob

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0001175 abnormal lung morphology "malformed organ of respiration" [J:35802]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0001179 thicker alveolar septa 
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0001547 abnormal lipid level "anomalous concentrations of fat-soluble substances (molecules composed of carbon and hydrogen and are characteristically insoluble in water) in the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0001790 abnormal immune system physiology "deviation from the normal function of the immune system " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Npc2tm1Plob/Npc2tm1Plob
Genetic Background: C.129S1-Npc2tm1Plob

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0002118 abnormal lipid homeostasis "anomaly in the state of equilibrium in the body with respect to lipids in the fluids and tissues" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0002275 abnormal type II pneumocyte morphology "any structural anomaly of the epithelial cells lining the alveoli that produce surfactant " [Pathology , 2nd edition:ISBN 0-397-51047-0, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0002444 abnormal T cell physiology "anomalous response of T lymphocytes" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mapk1tm1Kuta/Mapk1tm1.1Kuta
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * FVB/N

 MP:0002768 small adrenal glands "reduced size of endocrine glands located above the kidneys responsible for hormone and epinephrine secretion" [J:78062]
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Allelic Composition: Ncoa3tm1b(EUCOMM)Wtsi/Ncoa3+
Genetic Background: C57BL/6N-Ncoa3tm1b(EUCOMM)Wtsi/H

 MP:0003982 increased cholesterol level "greater than normal concentration in the body of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0004007 abnormal lung vasculature "malformation or disorganization of the blood vessels of the lung" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0004777 abnormal phospholipid level "anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0004781 abnormal surfactant composition "anomaly in the chemical consituents of surfactant, a phospholipid present in the lungs that controls surface tension in the alveoli" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0005058 abnormal lysosome morphology "anomalous structure of any of the cytoplasmic, membrane bound vesicles that contain a variety of hydrolases" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mapk1tm1Kuta/Mapk1tm1.1Kuta
Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J * FVB/N

 MP:0005630 increased lung weight "greater than the normal state of the physical heaviness of the lung" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0008045 decreased NK cell number "reduction in the number of non-T, non-B lymphocytes, having a granular morphology and which are important in innate immunity to viruses and other intracellular pathogens; in addition, these cells can kill certain tumor cells" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease"]
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Allelic Composition: Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Npc2tm1Plob/Npc2tm1Plob
Genetic Background: C.129S1-Npc2tm1Plob

 MP:0008245 abnormal alveolar macrophage morphology "any structural anomaly of the round, granular, mononuclear phagocytes found in the alveoli of the lungs which ingest small inhaled particles resulting in degradation and presentation of the antigen to immunocompetent cells" [CL:0000583, MESH:A.11.329.372.600]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0008570 lipidosis "abnormal fat metabolism with increased accumulation of specific lipids in tissue" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0010027 increased liver cholesterol level "greater than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Npc1m1N/Npc1m1N
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

Allelic Composition: Npc1m1N/Npc1m1N,Npc2tm1Plob/Npc2tm1Plob
Genetic Background: involves: 129S1/Sv * BALB/c * C57BL/6

 MP:0010766 abnormal NK cell physiology "any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [GOC:add, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:15771571]
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Allelic Composition: Npc2tm1Plob/Npc2tm1Plob
Genetic Background: C.129S1-Npc2tm1Plob

 MP:0010889 small alveolar lamellar bodies "decreased size of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0010891 increased alveolar lamellar body number "greater number of the specialized secretory organelles found in the cytoplasm of type II pneumocytes and involved in the synthesis, secretion, and reutilization of pulmonary surfactant" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

 MP:0010998 pulmonary alveolar proteinosis "abnormal intra-alveolar accumulation of an amorphous, largely cell-free, surfactant-like lipoproteinaceous material that is not easily cleared from the lungs" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Ildr1Gt(D178D03)Wrst/Ildr1Gt(D178D03)Wrst,Tg(Cck-EGFP)BJ203Gsat/0
Genetic Background: involves: 129S2/SvPas * C57BL/6J * FVB/NTac * Swiss Webster

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000024413 Npc1 / O35604 / Niemann-Pick C1 protein / O15118* / NPC intracellular cholesterol transporter 1*  / reaction






 

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