[Term] id: PR:000000923 name: voltage-gated potassium channel subunit KCNQ4 sequence variant L281S (human) def: "A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Leu-281 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Leu-281, CHEBI:29999." [PMID:10571947, PRO:CNA, PRO:DAN] comment: Category=organism-sequence. Note: This residue is located in the pore region located between segments S5 and S6. synonym: "hKCNQ4/var:L281S" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P56696-1, Leu-281, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN] synonym: "voltage-gated potassium channel subunit KCNQ4 sequence variant 4 (human)" EXACT [PRO:DNx] xref: UniProtKB_VAR:VAR_010937 is_a: PR:P56696 ! potassium voltage-gated channel subfamily KQT member 4 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000000922 name: voltage-gated potassium channel subunit KCNQ4 sequence variant G285S (human) def: "A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Gly-285 of the amino acid sequence represented by UniProtKB:P56696-1. This variation is at the first Gly in the conserved selectivity filter sequence GYGD within the pore region. Example: UniProtKB:P56696-1, Gly-285, CHEBI:29999." [PMID:10025409, PRO:CNA, PRO:DAN] comment: Category=organism-sequence. synonym: "hKCNQ4/var:G285S" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P56696-1, Gly-285, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN] synonym: "voltage-gated potassium channel subunit KCNQ4 sequence variant 3 (human)" EXACT [PRO:DNx] xref: UniProtKB_VAR:VAR_001547 is_a: PR:P56696 ! potassium voltage-gated channel subfamily KQT member 4 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000000921 name: voltage-gated potassium channel subunit KCNQ4 sequence variant L274H (human) def: "A potassium voltage-gated channel subfamily KQT member 4 (human) that has a His residue at the position equivalent to Leu-274 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Leu-274, CHEBI:29979." [PMID:10925378, PRO:CNA, PRO:DAN] comment: Category=organism-sequence. Note: This residue is located in the pore region located between segments S5 and S6. synonym: "hKCNQ4/var:L274H" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P56696-1, Leu-274, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DAN] synonym: "voltage-gated potassium channel subunit KCNQ4 sequence variant 2 (human)" EXACT [PRO:DNx] xref: UniProtKB_VAR:VAR_010936 is_a: PR:P56696 ! potassium voltage-gated channel subfamily KQT member 4 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000000920 name: voltage-gated potassium channel subunit KCNQ4 sequence variant G285C (human) def: "A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Cys residue at the position equivalent to Gly-285 of the amino acid sequence represented by UniProtKB:P56696-1. This variation is at the first Gly in the conserved selectivity filter sequence GYGD within the pore region. Example: UniProtKB:P56696-1, Gly-285, CHEBI:29950." [PMID:10369879, PRO:CNA, PRO:DAN] comment: Category=organism-sequence. synonym: "hKCNQ4/var:G285C" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P56696-1, Gly-285, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DAN] synonym: "voltage-gated potassium channel subunit KCNQ4 sequence variant 1 (human)" EXACT [PRO:DNx] xref: UniProtKB_VAR:VAR_008727 is_a: PR:P56696 ! potassium voltage-gated channel subfamily KQT member 4 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000000925 name: voltage-gated potassium channel subunit KCNQ4 sequence variant G321S (human) def: "A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Gly-321 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Gly-321, CHEBI:29999." [PMID:10369879, PRO:CNA, PRO:DAN] comment: Category=organism-sequence. synonym: "hKCNQ4/var:G321S" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P56696-1, Gly-321, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN] synonym: "voltage-gated potassium channel subunit KCNQ4 sequence variant 6 (human)" EXACT [PRO:DNx] xref: UniProtKB_VAR:VAR_008728 is_a: PR:P56696 ! potassium voltage-gated channel subfamily KQT member 4 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:000000924 name: voltage-gated potassium channel subunit KCNQ4 sequence variant W276S (human) def: "A potassium voltage-gated channel subfamily KQT member 4 (human) that has a Ser residue at the position equivalent to Trp-276 of the amino acid sequence represented by UniProtKB:P56696-1. Example: UniProtKB:P56696-1, Trp-276, CHEBI:29999." [PMID:10369879, PRO:CNA, PRO:DAN] comment: Category=organism-sequence. Note: This residue is located in the pore region located between segments S5 and S6. synonym: "hKCNQ4/var:W276S" EXACT PRO-short-label [PRO:DNx] synonym: "UniProtKB:P56696-1, Trp-276, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DAN] synonym: "voltage-gated potassium channel subunit KCNQ4 sequence variant 5 (human)" EXACT [PRO:DNx] xref: UniProtKB_VAR:VAR_008726 is_a: PR:P56696 ! potassium voltage-gated channel subfamily KQT member 4 (human) relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens [Term] id: PR:P56696 name: potassium voltage-gated channel subfamily KQT member 4 (human) def: "A voltage-gated potassium channel subunit KCNQ4 that is encoded in the genome of human." [PRO:CNA, UniProtKB:P56696] comment: Category=organism-gene. synonym: "KCNQ4" RELATED Gene-based [UniProtKB:P56696] synonym: "hKCNQ4" EXACT PRO-short-label [PRO:DNx] synonym: "KQT-like 4 (human)" EXACT [UniProtKB:P56696] synonym: "potassium channel subunit alpha KvLQT4 (human)" EXACT [UniProtKB:P56696] synonym: "voltage-gated potassium channel subunit Kv7.4 (human)" EXACT [UniProtKB:P56696] xref: Reactome:R-HSA-977515 "PR:P56696 located_in GO:0005886" xref: DTO:01100235 xref: UniProtKB:P56696 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000000731 ! voltage-gated potassium channel subunit KCNQ4 relationship: has_gene_template HGNC:6298 ! KCNQ4 (human) [Term] id: PR:000000731 name: voltage-gated potassium channel subunit KCNQ4 def: "A voltage-gated potassium channel subunit KQT that is a translation product of the human KCNQ4 gene or a 1:1 ortholog thereof." [PRO:CNA] comment: Category=gene. synonym: "KCNQ4" EXACT PRO-short-label [PRO:DNx] synonym: "KQT-like 4" EXACT [] synonym: "potassium channel subunit alpha KvLQT4" EXACT [] synonym: "voltage-gated potassium channel subunit Kv7.4" EXACT [] xref: IUPHARobj:563 xref: PIRSF:PIRSF500967 xref: PANTHER:PTHR11537:SF4 is_a: PR:000000684 ! voltage-gated potassium channel subunit KQT [Term] id: PR:P56696-1 name: potassium voltage-gated channel subfamily KQT member 4 isoform 1 (human) def: "A voltage-gated potassium channel subunit KCNQ4 isoform 1 that is encoded in the genome of human." [PRO:CNA] comment: Category=organism-sequence. Requested by=PubChem. synonym: "hKCNQ4/iso:1" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P56696-1 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000000918 ! voltage-gated potassium channel subunit KCNQ4 isoform 1 [Term] id: PR:P56696-2 name: potassium voltage-gated channel subfamily KQT member 4 isoform 2 (human) def: "A voltage-gated potassium channel subunit KCNQ4 isoform 2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P56696] comment: Category=organism-sequence. synonym: "hKCNQ4/iso:2" EXACT PRO-short-label [PRO:DNx] xref: UniProtKB:P56696-2 intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens intersection_of: PR:000000919 ! voltage-gated potassium channel subunit KCNQ4 isoform 2