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Protein Ontology report - voltage-gated potassium channel subunit KCNQ2 sequence variant 4 (human)
PR:000000911 -
http://purl.obolibrary.org/obo/PR_000000911
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000911
PRO name
voltage-gated potassium channel subunit KCNQ2 sequence variant 4 (human)
Synonyms
PRO-Short-label
:
EXACT:
hKCNQ2/var:4
PRO-proteoform-std
:
EXACT:
UniProtKB:O43526
, Arg-214,
CHEBI:29954
NARROW:
UniProtKB:O43526-1
, Arg-214,
CHEBI:29954
Definition
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a change of one of the innermost Arg residues of the key functional voltage sensor (S4) region. Example:
UniProtKB:O43526-1
, Arg-214,
CHEBI:29954
." [
PMID:11175290
, PRO:CNA, PRO:DAN]
PRO Category
organism-sequence
Parent
PR:O43526
potassium voltage-gated channel subfamily KQT member 2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_010929
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
PR:000000911
hKCNQ2/var:4
UniProtKB:O43526, Arg-214, CHEBI:29954 | UniProtKB:O43526-1, Arg-214, CHEBI:29954
"A potassium voltage-gated channel subfamily KQT member 2 (human) that has a change of one of the innermost Arg residues of the key functional voltage sensor (S4) region. Example: UniProtKB:O43526-1, Arg-214, CHEBI:29954." [PMID:11175290, PRO:CNA, PRO:DAN]
associated_with_disease_progression
DO:14264
benign neonatal seizures
PMID:11175290