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

GO curators for mouse genes have assigned the following annotations to the gene product of Evc. (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 leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [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 Evc
  • is located in the following cellular components:
    • cilium ^[1]
    • microtubule basal body ^[2]
• The gene product of Evc has been shown to bind to the gene products of Evc2. ^[1]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Evc
  • participates in the following biological processes:
    • endochondral bone growth ^[2]
    • positive regulation of smoothened signaling pathway ^[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 Evc:
  • is located in the following cellular components:
    • cilium

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Summary text based on GO annotations supported by structural data

• Evc encodes a protein or proteins that contain the following InterPro domains: Ellis-van Creveld protein, Limbin/Ellis-van Creveld protein, indicating that the gene product:
  • participates in the following biological processes:
    • smoothened signaling pathway

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Evc indicates that it:
  • is located in the following cellular components:
    • cell projection
    • cytoplasm
    • cytoskeleton
    • integral to membrane
    • membrane
    • plasma membrane

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References

1. Blair HJ et al. (2011) Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus. BMC Biol, 9:14. (PubMed:21356043)
2. Ruiz-Perez VL et al. (2007) Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development, 134:2903-12. (PubMed:17660199)

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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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