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

GO curators for mouse genes have assigned the following annotations to the gene product of Pex2. (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 an integral peroxisomal membrane protein required for peroxisome biogenesis. The protein is thought to be involved in peroxisomal matrix protein import. Mutations in this gene result in one form of Zellweger syndrome and infantile Refsum disease. Alternative splicing results in multiple transcript variants encoding the same protein. [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 Pex2
  • participates in the following biological processes:
    • bile acid biosynthetic process ^[2]
    • cholesterol homeostasis ^[2]
    • nervous system development ^[1]
    • neuron migration ^[1]
    • regulation of cholesterol biosynthetic process ^[2]

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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 Pex2:
  • participates in the following biological processes:
    • fatty acid beta-oxidation
    • negative regulation of epithelial cell proliferation
    • negative regulation of fibroblast proliferation
    • negative regulation of transcription from RNA polymerase II promoter
    • peroxisome organization
    • protein destabilization
    • protein import into peroxisome matrix
    • very long-chain fatty acid metabolic process
  • is located in the following cellular components:
    • Cdc73/Paf1 complex
    • integral to peroxisomal membrane
    • membrane
    • peroxisomal membrane
    • peroxisome

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Summary text based on GO annotations supported by structural data

• Pex2 encodes a protein or proteins that contain the following InterPro domains: Pex, N-terminal, Zinc finger, C3HC4 RING-type, Zinc finger, RING-type, Zinc finger, RING-type, conserved site, Zinc finger, RING/FYVE/PHD-type, indicating that the gene product:
  • performs the following molecular functions:
    • zinc ion binding

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Pex2 indicates that it:
  • performs the following molecular functions:
    • metal ion binding
  • is located in the following cellular components:
    • integral to membrane

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References

1. Faust PL. (2003) Abnormal cerebellar histogenesis in PEX2 Zellweger mice reflects multiple neuronal defects induced by peroxisome deficiency. J Comp Neurol, 461:394-413. (PubMed:12746876)
2. Kovacs WJ et al. (2004) Disturbed cholesterol homeostasis in a peroxisome-deficient PEX2 knockout mouse model. Mol Cell Biol, 24:1-13. (PubMed:14673138)

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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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