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Protein Ontology Report - KCNQ2

PR:000000729 - http://purl.obolibrary.org/obo/PR_000000729
Ontology Information
PRO ID PR:000000729 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ2
Synonyms
PRO-short-label: KCNQ2
EXACT: KQT-like 2; neuroblastoma-specific potassium channel subunit alpha KvLQT2; potassium channel subunit alpha KvLQT2; voltage-gated potassium channel subunit Kv7.2
Gene-based: Kqt2
Definition A voltage-gated potassium channel subunit KQT that is a translation product of the human KCNQ2 gene or a 1:1 ortholog thereof. Most of the isoforms are generated by splicing that is restricted to a region that encodes the intracellular C-terminal domain of the channel (exons 7-16 in rat). From these, there are two main classes, one containing exon 16 in-frame, and others with an alternative splice junction in exon 14 that results in a frameshift and early termination. In addition, exons 12 and 13 have alternative splice junctions, and exons 8,11, and 15a are subject to splicing. Many members of this class can form heteromeric channels with members of the class KCNQ3 (PR:000000730). Some forms of KCNQ2 contain two binding calmodulin binding sites and calmodulin is tethered constitutively to KCNQ channels. [PMID:11230508, PMID:12223552]
PRO Category gene
Parent PR:000000684 voltage-gated potassium channel subunit KQT
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 3
sequence 16 organism-sequence 38
modification 1 organism-modification 0
union 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:000000915
hKCNQ2/var:M208V
Met-208, CHEBI:30015
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:14534157
PR:000000909
hKCNQ2/var:R207W
Arg-207, CHEBI:29954
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:11572947
capable_of 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
PR:000000916
hKCNQ2/iso:3/var:K526N
Lys-526, CHEBI:50347
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:15249611
PR:O43526-4
hKCNQ2/iso:4
capable_of 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
PR:O43526-6
hKCNQ2/iso:6
capable_of GO:0005249 voltage-gated potassium channel activity PMID:9039501
PR:Q9Z351-9
mKCNQ2/iso:9
capable_of NOT GO:0022832 voltage-gated channel activity PMID:9666519
PR:000000913
hKCNQ2/var:A306T
Ala-306, CHEBI:30013
associated_with_disease_progression DOID:14264 benign neonatal seizures 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
capable_of GO:0005249 voltage-gated potassium channel activity decreased relative to PR:000002632 KCNQ2/iso:2/UnMod PMID:12742592
PR:O43526-2
hKCNQ2/iso:2
capable_of GO:0005249 voltage-gated potassium channel activity PMID:11160379
PR:Q9Z351-11
mKCNQ2/iso:11
capable_of NOT GO:0022832 voltage-gated channel activity PMID:9666519
PR:Q9Z351-10
mKCNQ2/iso:10
capable_of NOT GO:0022832 voltage-gated channel activity PMID:9666519
PR:Q9Z351-12
mKCNQ2/iso:12
capable_of GO:0005516 calmodulin binding PMID:12223552
located_in GO:0009986 cell surface PMID:12223552
part_of GO:0008076 voltage-gated potassium channel complex PMID:12223552
PR:000000912
hKCNQ2/var:Y284C
Tyr-284, CHEBI:29950
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:10788442
located_in GO:0009986 cell surface PMID:10788442
PR:O88943-1
rKCNQ2/iso:A
capable_of GO:0005249 voltage-gated potassium channel activity PMID:11038262
PR:000000910
hKCNQ2/var:L243F
Leu-243, CHEBI:29997
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:14534157
PR:000000911
hKCNQ2/var:4
Arg-214, CHEBI:29954
associated_with_disease_progression DOID:14264 benign neonatal seizures PMID:11175290
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
PR:Q9Z351-12 mKCNQ2/iso:12

PMID:12223552

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