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Protein Ontology report - potassium voltage-gated channel subfamily KQT member 2 (human)

PR:O43526 - http://purl.obolibrary.org/obo/PR_O43526

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Ontology Information

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PRO ID

PR:O43526

PRO name

potassium voltage-gated channel subfamily KQT member 2 (human)

Synonyms

PRO-Short-label:	EXACT:	hKCNQ2
Gene-based:	RELATED:	KCNQ2
Other:	EXACT:	KQT-like 2 (human) \| neuroblastoma-specific potassium channel subunit alpha KvLQT2 (human) \| voltage-gated potassium channel subunit Kv7.2 (human)

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
PR:000029067 Homo sapiens protein

Gene Template

HGNC:6296 KCNQ2 (human)

Taxon

NCBITaxon:9606 Homo sapiens

Terms by PRO Category

Organism-Independent		Organism-Specific
Category	Number of Terms	Category	Number of Terms
Gene	0	Organism-Gene	1
Sequence	0	Organism-Sequence	16
Modification	0	Organism-Modification	2

Term Hierarchy
Visualization

DAG:

OLS:

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Related Cross References
Db identifiers	UniProtKB:O43526

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Protein Forms

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Category

PRO Form Name

Short Name

Ann. Has Annotation?

comp. In Complex?

organism-gene

PR:O43526 potassium voltage-gated channel subfamily KQT member 2 (human)

hKCNQ2

organism-sequence

PR:000000907 voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human)

hKCNQ2/var:S247W

organism-sequence

PR:000000908 voltage-gated potassium channel subunit KCNQ2 sequence variant H228Q (human)

hKCNQ2/var:H228Q

organism-sequence

PR:000000909 voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)

hKCNQ2/var:R207W

organism-sequence

PR:000000910 voltage-gated potassium channel subunit KCNQ2 sequence variant L243F (human)

hKCNQ2/var:L243F

organism-sequence

PR:000000911 voltage-gated potassium channel subunit KCNQ2 sequence variant 4 (human)

hKCNQ2/var:4

organism-sequence

PR:000000912 voltage-gated potassium channel subunit KCNQ2 sequence variant Y284C (human)

hKCNQ2/var:Y284C

organism-sequence

PR:000000913 voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)

hKCNQ2/var:A306T

organism-sequence

PR:000000914 voltage-gated potassium channel subunit KCNQ2 sequence variant R333Q (human)

hKCNQ2/var:R333Q

organism-sequence

PR:000000915 voltage-gated potassium channel subunit KCNQ2 sequence variant M208V (human)

hKCNQ2/var:M208V

organism-sequence

PR:O43526-1 potassium voltage-gated channel subfamily KQT member 2 isoform 1 (human)

hKCNQ2/iso:1

organism-sequence

PR:O43526-2 potassium voltage-gated channel subfamily KQT member 2 isoform 2 (human)

hKCNQ2/iso:2

organism-sequence

PR:O43526-3 potassium voltage-gated channel subfamily KQT member 2 isoform 3 (human)

hKCNQ2/iso:3

organism-sequence

PR:000000916 voltage-gated potassium channel subunit KCNQ2 isoform 3 sequence variant K526N (human)

hKCNQ2/iso:3/var:K526N

organism-sequence

PR:O43526-4 potassium voltage-gated channel subfamily KQT member 2 isoform 4 (human)

hKCNQ2/iso:4

organism-sequence

PR:O43526-5 potassium voltage-gated channel subfamily KQT member 2 isoform 5 (human)

hKCNQ2/iso:5

organism-sequence

PR:O43526-6 potassium voltage-gated channel subfamily KQT member 2 isoform 6 (human)

hKCNQ2/iso:6

organism-modification

PR:000076442 potassium voltage-gated channel subfamily KQT member 2 acetylated 1 (human)

hKCNQ2/Ac:1

organism-modification

PR:000079703 potassium voltage-gated channel subfamily KQT member 2 phosphorylated 1 (human)

hKCNQ2/Phos:1

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Functional Annotation (PRO-centric view)

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PRO Term	GO Annotation		Evidence
PR:000000907 hKCNQ2/var:S247W Example: UniProtKB:O43526-1, Ser-247, CHEBI:29954	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:12742592
	enables	decreased GO:0005249 voltage-gated potassium channel activity relative to PR:000002632 KCNQ2/iso:2/UnMod	PMID:12742592
PR:000000908 hKCNQ2/var:H228Q Example: UniProtKB:O43526-1, His-228, CHEBI:30011	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:14534157
PR:000000909 hKCNQ2/var:R207W Example: UniProtKB:O43526-1, Arg-207, CHEBI:29954	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:11572947
	enables	decreased GO:0005249 voltage-gated potassium channel activity relative to PR:000002632 KCNQ2/iso:2/UnMod	PMID:11572947
PR:000000910 hKCNQ2/var:L243F Example: UniProtKB:O43526-1, Leu-243, CHEBI:29997	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:14534157
PR:000000911 hKCNQ2/var:4 Example: UniProtKB:O43526-1, Arg-214, CHEBI:29954	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:11175290
PR:000000912 hKCNQ2/var:Y284C Example: UniProtKB:O43526-1, Tyr-284, CHEBI:29950	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:10788442
	located_in	GO:0009986 cell surface	PMID:10788442
PR:000000913 hKCNQ2/var:A306T Example: UniProtKB:O43526-1, Ala-306, CHEBI:30013	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:10788442
	located_in	GO:0009986 cell surface	PMID:10788442
PR:000000914 hKCNQ2/var:R333Q Example: UniProtKB:O43526-1, Arg-333, CHEBI:30011	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:14534157
PR:000000915 hKCNQ2/var:M208V Example: UniProtKB:O43526-1, Met-208, CHEBI:30015	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:14534157
PR:000000916 hKCNQ2/iso:3/var:K526N UniProtKB:O43526-3, Lys-526, CHEBI:50347	associated_with_disease_progression	DO:14264 benign neonatal seizures	PMID:15249611
PR:O43526-2 hKCNQ2/iso:2	enables	contributes_to GO:0005249 voltage-gated potassium channel activity	PMID:11160379
PR:O43526-4 hKCNQ2/iso:4	enables	contributes_to GO:0005251 delayed rectifier potassium channel activity	PMID:9836639
PR:O43526-6 hKCNQ2/iso:6	enables	decreased\|contributes_to GO:0005249 voltage-gated potassium channel activity relative to PR:000002632 KCNQ2/iso:2/UnMod	PMID:9039501