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

GO curators for mouse genes have assigned the following annotations to the gene product of Kcnq2. (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.] The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five 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 Kcnq2
  • is located in the following cellular components:
    • axon initial segment ^[2]
    • node of Ranvier ^[2]
    • plasma membrane ^[2]
• Researchers have inferred, based on phenotypic analysis of mouse mutants, that the gene product of Kcnq2
  • participates in the following biological processes:
    • membrane hyperpolarization ^[1]
    • transmission of nerve impulse ^[3]

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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 Kcnq2:
  • performs the following molecular functions:
    • ankyrin binding
    • delayed rectifier potassium channel activity
    • protein N-terminus binding
  • is located in the following cellular components:
    • protein complex

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Summary text based on GO annotations supported by structural data

• Kcnq2 encodes a protein or proteins that contain the following InterPro domains: Ankyrin-G binding site, Ion transport domain, Potassium channel, voltage dependent, KCNQ, Potassium channel, voltage dependent, KCNQ, C-terminal, Potassium channel, voltage dependent, KCNQ2, Voltage-dependent potassium channel, indicating that the gene product:
  • participates in the following biological processes:
    • ion transport
    • potassium ion transport
    • transmembrane transport
  • performs the following molecular functions:
    • ion channel activity
    • voltage-gated potassium channel activity
  • is located in the following cellular components:
    • membrane
    • voltage-gated potassium channel complex

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Summary text for additional MGI annotations

• Automated translation to GO terms of SwissProt keywords that describe Kcnq2 indicates that it:
  • participates in the following biological processes:
    • ion transport
    • potassium ion transmembrane transport
    • potassium ion transport
    • regulation of ion transmembrane transport
    • transport
  • performs the following molecular functions:
    • ion channel activity
    • potassium channel activity
    • voltage-gated ion channel activity
  • is located in the following cellular components:
    • integral to membrane
    • membrane

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References

1. Hayakawa JI et al. (1990) Inheritance of juvenile visceral steatosis (jvs) found in C3H-H-2 mice. Mouse Genome, 86:261.
2. Pan Z et al. (2006) A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. J Neurosci, 26:2599-613. (PubMed:16525039)
3. Watanabe H et al. (2000) Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability. J Neurochem, 75:28-33. (PubMed:10854243)

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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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