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Protein Ontology Report - hKCNQ2

PR:O43526 - http://purl.obolibrary.org/obo/PR_O43526
This page represents a class of proteins encompassing all the protein products of the KCNQ2 gene in human .
Ontology Information
PRO ID PR:O43526 Show OBO stanza / PAF
PRO name potassium voltage-gated channel subfamily KQT member 2 (human)
Synonyms
PRO-short-label: hKCNQ2
Definition A voltage-gated potassium channel subunit KCNQ2 that is encoded in the genome of human.
PRO Category organism-gene
Parent PR:000000729 voltage-gated potassium channel subunit KCNQ2
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Specific
Category Number of Terms
organism-gene 1
organism-sequence 16
organism-modification 0
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:000000911
hKCNQ2/var:4
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:11175290
has_agent SO:0001606 amino_acid_substitution PMID:11175290
PR:000000915
hKCNQ2/var:M208V
Met-208, CHEBI:30015
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:14534157
has_agent SO:0001606 amino_acid_substitution PMID:14534157
PR:000000909
hKCNQ2/var:R207W
Arg-207, CHEBI:29954
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:11572947
has_agent SO:0001606 amino_acid_substitution PMID:11572947
has_function GO:0005249 voltage-gated potassium channel activity decreased relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:11572947
PR:000000908
hKCNQ2/var:H228Q
His-228, CHEBI:30011
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:14534157
has_agent SO:0001606 amino_acid_substitution PMID:14534157
PR:000000910
hKCNQ2/var:L243F
Leu-243, CHEBI:29997
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:14534157
has_agent SO:0001606 amino_acid_substitution PMID:14534157
PR:000000916
hKCNQ2/var:K526N
Lys-526, CHEBI:50347
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:15249611
has_agent SO:0001606 amino_acid_substitution PMID:15249611
PR:O43526-4
hKCNQ2/iso:4
has_function GO:0005251 delayed rectifier potassium channel activity PMID:9836639
PR:000000914
hKCNQ2/var:R333Q
Arg-333, CHEBI:30011
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:14534157
has_agent SO:0001606 amino_acid_substitution PMID:14534157
PR:O43526-6
hKCNQ2/iso:6
has_function GO:0005249 voltage-gated potassium channel activity PMID:9039501
PR:000000912
hKCNQ2/var:Y284C
Tyr-284, CHEBI:29950
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:10788442
has_agent SO:0001606 amino_acid_substitution PMID:10788442
located_in GO:0009986 cell surface PMID:10788442
PR:000000913
hKCNQ2/var:A306T
Ala-306, CHEBI:30013
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:10788442
has_agent SO:0001606 amino_acid_substitution PMID:10788442
located_in GO:0009986 cell surface PMID:10788442
PR:000000907
hKCNQ2/var:S247W
Ser-247, CHEBI:29954
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:12742592
has_agent SO:0001606 amino_acid_substitution PMID:12742592
has_function GO:0005249 voltage-gated potassium channel activity decreased relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:12742592
PR:O43526-2
hKCNQ2/iso:2
has_function GO:0005249 voltage-gated potassium channel activity PMID:11160379
Molecular Function GO Term Protein Forms & Complexes Evidence
GO:0005251 delayed rectifier potassium channel activity PR:O43526-4 hKCNQ2/iso:4

PMID:9836639
GO:0005249 voltage-gated potassium channel activity PR:000000907 hKCNQ2/var:S247W
Ser-247, CHEBI:29954
decreased relative to PR:000002632 KCNQ2/iso:2/UnMod
PMID:12742592
PR:000000909 hKCNQ2/var:R207W
Arg-207, CHEBI:29954
decreased relative to PR:000002632 KCNQ2/iso:2/UnMod
PMID:11572947
PR:O43526-2 hKCNQ2/iso:2

PMID:11160379
PR:O43526-6 hKCNQ2/iso:6

PMID:9039501
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0009986 cell surface PR:000000912 hKCNQ2/var:Y284C
Tyr-284, CHEBI:29950
PMID:10788442
PR:000000913 hKCNQ2/var:A306T
Ala-306, CHEBI:30013
PMID:10788442

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