[Term]
id: PR:O43526-6
name: potassium voltage-gated channel subfamily KQT member 2 isoform 6 (human)
def: "A voltage-gated potassium channel subunit KCNQ2 isoform 6 that is encoded in the genome of human." [PRO:DNx, UniProtKB:O43526]
comment: Category=organism-sequence.
synonym: "hKCNQ2/iso:6" EXACT PRO-short-label [PRO:DNx]
synonym: "potassium voltage-gated channel subfamily KQT member 2 isoform HNSPC (human)" EXACT [UniProtKB:O43526]
xref: UniProtKB:O43526-6
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000903 ! voltage-gated potassium channel subunit KCNQ2 isoform 6

[Term]
id: PR:000000729
name: voltage-gated potassium channel subunit KCNQ2
def: "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]
comment: Category=gene.
synonym: "Kqt2" RELATED Gene-based []
synonym: "KCNQ2" EXACT PRO-short-label [PRO:DNx]
synonym: "KQT-like 2" EXACT []
synonym: "potassium channel subunit alpha KvLQT2" EXACT []
synonym: "voltage-gated potassium channel subunit Kv7.2" EXACT []
synonym: "neuroblastoma-specific potassium channel subunit alpha KvLQT2" EXACT []
xref: IUPHARobj:561
xref: PIRSF:PIRSF500965
is_a: PR:000000684 ! voltage-gated potassium channel subunit KQT

[Term]
id: PR:O43526-5
name: potassium voltage-gated channel subfamily KQT member 2 isoform 5 (human)
def: "A voltage-gated potassium channel subunit KCNQ2 isoform 5 that is encoded in the genome of human." [PRO:DNx, UniProtKB:O43526]
comment: Category=organism-sequence.
synonym: "hKCNQ2/iso:5" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O43526-5
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000902 ! voltage-gated potassium channel subunit KCNQ2 isoform 5

[Term]
id: PR:O43526-1
name: potassium voltage-gated channel subfamily KQT member 2 isoform 1 (human)
def: "A voltage-gated potassium channel subunit KCNQ2 isoform 1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:O43526]
comment: Category=organism-sequence.
synonym: "hKCNQ2/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O43526-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000891 ! voltage-gated potassium channel subunit KCNQ2 isoform 1

[Term]
id: PR:O43526
name: potassium voltage-gated channel subfamily KQT member 2 (human)
def: "A voltage-gated potassium channel subunit KCNQ2 that is encoded in the genome of human." []
comment: Category=organism-gene.
synonym: "KCNQ2" RELATED Gene-based [UniProtKB:O43526]
synonym: "hKCNQ2" EXACT PRO-short-label [PRO:DNx]
synonym: "KQT-like 2 (human)" EXACT [UniProtKB:O43526]
synonym: "voltage-gated potassium channel subunit Kv7.2 (human)" EXACT [UniProtKB:O43526]
synonym: "neuroblastoma-specific potassium channel subunit alpha KvLQT2 (human)" EXACT [UniProtKB:O43526]
xref: Reactome:R-HSA-443613 "PR:O43526 located_in GO:0005886"
xref: DTO:01100233
xref: UniProtKB:O43526
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000729 ! voltage-gated potassium channel subunit KCNQ2
relationship: has_gene_template HGNC:6296 ! KCNQ2 (human)

[Term]
id: PR:000000909
name: voltage-gated potassium channel subunit KCNQ2 sequence variant R207W (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Trp residue at the position equivalent to Arg-207 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Arg-207, CHEBI:29954." [PMID:11572947, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This mutation neutralizes a charged amino acid in the S4 voltage-sensor segment of KCNQ2, and leads to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization.
synonym: "hKCNQ2/var:R207W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Arg-207, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 2 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026987
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000908
name: voltage-gated potassium channel subunit KCNQ2 sequence variant H228Q (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Gln residue at the position equivalent to His-228 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, His-228, CHEBI:30011." [PMID:14534157, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the intracellular loop between S4-S5.
synonym: "hKCNQ2/var:H228Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, His-228, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 10 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026989
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O43526-3
name: potassium voltage-gated channel subfamily KQT member 2 isoform 3 (human)
def: "A voltage-gated potassium channel subunit KCNQ2 isoform 3 that is encoded in the genome of human." [PRO:DNx, UniProtKB:O43526]
comment: Category=organism-sequence.
synonym: "hKCNQ2/iso:3" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O43526-3
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000900 ! voltage-gated potassium channel subunit KCNQ2 isoform 3

[Term]
id: PR:000000907
name: voltage-gated potassium channel subunit KCNQ2 sequence variant S247W (human)
def: "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: Category=organism-sequence. 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%.
synonym: "hKCNQ2/var:S247W" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Ser-247, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 1 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026991
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O43526-2
name: potassium voltage-gated channel subfamily KQT member 2 isoform 2 (human)
def: "A voltage-gated potassium channel subunit KCNQ2 isoform 2 that is encoded in the genome of human." [PRO:CNA]
comment: Category=organism-sequence.
synonym: "hKCNQ2/iso:2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O43526-2
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000899 ! voltage-gated potassium channel subunit KCNQ2 isoform 2

[Term]
id: PR:000000916
name: voltage-gated potassium channel subunit KCNQ2 isoform 3 sequence variant K526N (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 isoform 3 (human) that has an Asn residue at the position equivalent to Lys-526 of the amino acid sequence represented by UniProtKB:O43526-3. UniProtKB:O43526-3, Lys-526, CHEBI:50347." [PMID:15249611, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue lies within the minimum KCNQ2 sequence necessary for CaM binding.
synonym: "hKCNQ2/iso:3/var:K526N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-3, Lys-526, CHEBI:50347" EXACT PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 9 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026993
is_a: PR:O43526-3 ! potassium voltage-gated channel subfamily KQT member 2 isoform 3 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:O43526-4
name: potassium voltage-gated channel subfamily KQT member 2 isoform 4 (human)
def: "A voltage-gated potassium channel subunit KCNQ2 isoform 4 that is encoded in the genome of human." [PRO:CNA]
comment: Category=organism-sequence.
synonym: "hKCNQ2/iso:4" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:O43526-4
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000000901 ! voltage-gated potassium channel subunit KCNQ2 isoform 4

[Term]
id: PR:000000914
name: voltage-gated potassium channel subunit KCNQ2 sequence variant R333Q (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Gln residue at the position equivalent to Arg-333 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Arg-333, CHEBI:30011." [PMID:14534157, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This residue is located in the C-terminal segment.
synonym: "hKCNQ2/var:R333Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Arg-333, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 7 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026992
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000915
name: voltage-gated potassium channel subunit KCNQ2 sequence variant M208V (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Val residue at the position equivalent to Met-208 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Met-208, CHEBI:30015." [PMID:14534157, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This mutation is located in the S4 transmembrane domain and causes minor effect on maximal current but clearly exhibits a faster rate of deactivation.
synonym: "hKCNQ2/var:M208V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Met-208, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 8 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026988
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000912
name: voltage-gated potassium channel subunit KCNQ2 sequence variant Y284C (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Cys residue at the position equivalent to Tyr-284 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Tyr-284, CHEBI:29950." [PMID:10788442, PMID:9425895, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This mutation is located in the pore region and produces a reduction of wild type heteromeric currents.
synonym: "hKCNQ2/var:Y284C" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Tyr-284, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 5 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_010930
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000913
name: voltage-gated potassium channel subunit KCNQ2 sequence variant A306T (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Thr residue at the position equivalent to Ala-306 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Ala-306, CHEBI:30013." [PMID:10788442, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence. Note: This mutation is located in transmembrane domain S6 and causes a reduction of wild type heteromeric currents.
synonym: "hKCNQ2/var:A306T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Ala-306, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 6 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_010931
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000910
name: voltage-gated potassium channel subunit KCNQ2 sequence variant L243F (human)
def: "A potassium voltage-gated channel subfamily KQT member 2 (human) that has a Phe residue at the position equivalent to Leu-243 of the amino acid sequence represented by UniProtKB:O43526-1. Example: UniProtKB:O43526-1, Leu-243, CHEBI:29997." [PMID:14534157, PRO:CNA, PRO:DAN]
comment: Category=organism-sequence.
synonym: "hKCNQ2/var:L243F" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Leu-243, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DAN]
synonym: "voltage-gated potassium channel subunit KCNQ2 sequence variant 3 (human)" EXACT [PRO:DNx]
xref: UniProtKB_VAR:VAR_026990
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000000911
name: voltage-gated potassium channel subunit KCNQ2 sequence variant 4 (human)
def: "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]
comment: Category=organism-sequence.
synonym: "hKCNQ2/var:4" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:O43526-1, Arg-214, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DAN]
xref: UniProtKB_VAR:VAR_010929
is_a: PR:O43526 ! potassium voltage-gated channel subfamily KQT member 2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens