Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Npc2. (This text reflects annotations as of Wednesday, January 23, 2013.)

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Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a lipid recognition domain. The encoded protein may function in regulating the transport of cholesterol through the late endosomal/lysosomal system. Mutations in this gene have been associated with Niemann-Pick disease, type C2 and frontal lobe atrophy. [provided by RefSeq, Jul 2008]

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Summary text based on GO annotations supported by experimental evidence in mouse

• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Npc2
  • participates in the following biological processes:
    • intracellular cholesterol transport ^[1]

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Summary text based on GO annotations supported by experimental evidence in other organisms

• From comparative sequence analysis (see table for details), MGI curators have determined that the gene product of Npc2:
  • participates in the following biological processes:
    • cholesterol efflux
    • cholesterol homeostasis
    • cholesterol transport
    • intracellular cholesterol transport
    • intracellular sterol transport
  • performs the following molecular functions:
    • cholesterol binding
    • enzyme binding
  • is located in the following cellular components:
    • lysosome

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Npc2 indicates that it:
  • participates in the following biological processes:
    • cholesterol metabolic process
    • lipid metabolic process
    • steroid metabolic process
  • is located in the following cellular components:
    • endoplasmic reticulum
    • extracellular region

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References

1. Liou HL et al. (2006) NPC2, the protein deficient in Niemann-Pick C2 disease, consists of multiple glycoforms that bind a variety of sterols. J Biol Chem, 281:36710-23. (PubMed:17018531)

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Gene Ontology Evidence Code Abbreviations:

EXP Inferred from experiment

IC Inferred by curator

IDA Inferred from direct assay

IEA Inferred from electronic annotation

IGI Inferred from genetic interaction

IMP Inferred from mutant phenotype

IPI Inferred from physical interaction

ISS Inferred from sequence or structural similarity

ISO Inferred from sequence orthology

ISA Inferred from sequence alignment

ISM Inferred from sequence model

NAS Non-traceable author statement

ND No biological data available

RCA Reviewed computational analysis

TAS Traceable author statement

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