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Protein Ontology Report - hKCNQ2/var:S247W

PR:000000907 - http://purl.obolibrary.org/obo/PR_000000907
Ontology Information
PRO ID PR:000000907 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human)
Synonyms
PRO-short-label: hKCNQ2/var:S247W
EXACT: voltage-gated potassium channel subunit KCNQ2 sequence variant 1 (human)
PRO-proteoform-std: UniProtKB:O43526-1, Ser-247, CHEBI:29954
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]
Comment Note: 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 Category organism-sequence
Parent PR:O43526 potassium voltage-gated channel subfamily KQT member 2 (human)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000907
hKCNQ2/var:S247W
Ser-247, CHEBI:29954
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:12742592
capable_of GO:0005249 voltage-gated potassium channel activity decreased relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:12742592

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