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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human)
PR:000000907 - http://purl.obolibrary.org/obo/PR_000000907
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000907   
  PRO namevoltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human) 
  Synonyms
PRO-Short-label: EXACT:hKCNQ2/var:S247W
PRO-proteoform-std: EXACT:UniProtKB:O43526, Ser-247, CHEBI:29954
NARROW:UniProtKB:O43526-1, Ser-247, CHEBI:29954
Other: EXACT:voltage-gated potassium channel subunit KCNQ2 sequence variant 1 (human)
  Definition"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Ser-247 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ser-247, CHEBI:29954." [PMID:12742592, PRO:CNA, PRO:DAN] 
  CommentNote: This residue is located within the transmembrane S5. This form reduces the current amplitude of KCNQ2 homomeric channels in a dominant-negative manner whereas the amplitude of KCNQ2/KCNQ3 heteromers is only reduced by about 40%. 
  PRO Categoryorganism-sequence 
  ParentPR:O43526 potassium voltage-gated channel subfamily KQT member 2 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_026991
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000907 hKCNQ2/var:S247W
UniProtKB:O43526, Ser-247, CHEBI:29954 | UniProtKB:O43526-1, Ser-247, CHEBI:29954 | voltage-gated potassium channel subunit KCNQ2 sequence variant 1 (human)
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Ser-247 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ser-247, CHEBI:29954." [PMID:12742592, PRO:CNA, PRO:DAN]		 associated_with_disease_progressionDO:14264 benign neonatal seizures PMID:12742592
enablesdecreased GO:0005249 voltage-gated potassium channel activity relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:12742592