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

GO curators for mouse genes have assigned the following annotations to the gene product of Fscn2. (This text reflects annotations as of Wednesday, January 23, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of August 14, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.

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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 member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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

• Researchers have inferred from direct assay, that the gene product of Fscn2
  • is located in the following cellular components:
    • actin cytoskeleton ^[1]
    • stereocilium ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Fscn2
  • participates in the following biological processes:
    • eye photoreceptor cell development ^[2]

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Summary text based on GO annotations supported by structural data

• Fscn2 encodes a protein or proteins that contain the following InterPro domains: Actin cross-linking, Fascin, Fascin domain, indicating that the gene product:
  • performs the following molecular functions:
    • actin filament binding
    • protein binding, bridging

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Fscn2 indicates that it:
  • performs the following molecular functions:
    • actin binding
  • is located in the following cellular components:
    • cell projection
    • cytoplasm
    • cytoskeleton

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References

1. Shin JB et al. (2010) The R109H variant of fascin-2, a developmentally regulated actin crosslinker in hair-cell stereocilia, underlies early-onset hearing loss of DBA/2J mice. J Neurosci, 30:9683-94. (PubMed:20660251)
2. Yokokura S et al. (2005) Targeted disruption of FSCN2 gene induces retinopathy in mice. Invest Ophthalmol Vis Sci, 46:2905-15. (PubMed:16043865)

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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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