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

GO curators for mouse genes have assigned the following annotations to the gene product of Clcn2. (This text reflects annotations as of Wednesday, August 14, 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 voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]

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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 Clcn2
  • participates in the following biological processes:
    • cell differentiation involved in salivary gland development ^[1]
    • chloride transport ^[1]
    • regulation of anion transport ^[1]
    • regulation of ion transmembrane transport ^[1]
    • retina development in camera-type eye ^[2]
  • performs the following molecular functions:
    • voltage-gated chloride channel activity ^[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 Clcn2:
  • participates in the following biological processes:
    • chloride transport
    • lung development
  • performs the following molecular functions:
    • voltage-gated chloride channel activity
  • is located in the following cellular components:
    • dendrite
    • perikaryon

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Summary text based on GO annotations supported by structural data

• Clcn2 encodes a protein or proteins that contain the following InterPro domains: Chloride channel ClC-2, Chloride channel, core, Chloride channel, voltage gated, Cystathionine beta-synthase, core, indicating that the gene product:
  • participates in the following biological processes:
    • transmembrane transport
  • performs the following molecular functions:
    • adenyl nucleotide binding
    • ion channel activity
  • is located in the following cellular components:
    • membrane

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Clcn2 indicates that it:
  • participates in the following biological processes:
    • ion transport
    • transport
  • performs the following molecular functions:
    • chloride channel activity
    • voltage-gated ion channel activity
  • is located in the following cellular components:
    • chloride channel complex
    • integral to membrane
    • membrane

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References

1. Nehrke K et al. (2002) Loss of hyperpolarization-activated Cl(-) current in salivary acinar cells from Clcn2 knockout mice. J Biol Chem, 277:23604-11. (PubMed:11976342)
2. Won J et al. (2011) Mouse model resources for vision research. J Ophthalmol, 2011:391384. (PubMed:21052544)

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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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