KCNE2

KCNE2
Estructuras disponibles
PDB	Búsqueda ortóloga: PDBe RCSB
Lista de codigos id de PDB
	2M0Q
Identificadores
Alias	KCNE2, ATFB4, LQT5, LQT6, MIRP1, potassium voltage-gated channel subfamily E regulatory subunit 2
IDs externos	OMIM: 603796 MGI: 1891123 HomoloGene: 71688 GeneCards: KCNE2
Enfermedades genéticamente relacionadas
	Síndrome de Romano-Ward
Ontología génica
Función molecular	• potassium channel activity; • protein homodimerization activity; • transmembrane transporter binding; • delayed rectifier potassium channel activity; • voltage-gated ion channel activity; • potassium channel regulator activity; • GO:0001948, GO:0016582 unión a proteína plasmática; • voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization; • voltage-gated potassium channel activity; • inward rectifier potassium channel activity;
Componente celular	• componente integral de membrana; • membrana; • voltage-gated potassium channel complex; • membrana plasmática; • lisosoma; • retículo endoplasmático; • aparato de Golgi; • cell surface;
Proceso biológico	• negative regulation of voltage-gated potassium channel activity; • tongue development; • regulation of inward rectifier potassium channel activity; • positive regulation of voltage-gated calcium channel activity; • regulation of ion transmembrane transport; • ventricular cardiac muscle cell action potential; • GO:0010260 envejecimiento; • cardiac muscle cell action potential involved in contraction; • ion transport; • potassium ion transport; • membrane repolarization; • membrane repolarization during action potential; • regulation of delayed rectifier potassium channel activity; • cardiac conduction; • potassium ion transmembrane transport; • regulation of membrane repolarization; • positive regulation of proteasomal protein catabolic process; • regulation of heart rate by cardiac conduction; • regulation of potassium ion transmembrane transport; • regulation of cyclic nucleotide-gated ion channel activity; • negative regulation of delayed rectifier potassium channel activity; • regulation of ventricular cardiac muscle cell membrane repolarization; • membrane repolarization during ventricular cardiac muscle cell action potential; • GO:0015915 transporte; • potassium ion export across plasma membrane; • potassium ion import across plasma membrane;
	Fuentes: Amigo / QuickGO
Ortólogos
	9992
	246133
	ENSG00000159197
	ENSMUSG00000039672
	Q9Y6J6
	Q9D808
	NM_172201; NM_005136
	NM_134110; NM_001358372
	NP_751951
	NP_598871; NP_001345301
	Wikidata
Ver/Editar Humano	Ver/Editar Ratón

La subunidad reguladora 2 de la subfamilia E del canal dependiente de voltaje de potasio (KCNE2) es un gen humano que codifica para un canal de potasio activado por voltaje perteneciente a la familia relacionada con Isk. El gen está relacionado con el síndrome del QT largo.^[4]

Pertenece al grupos de subunidades reguladoras del canal dependiente de voltaje de potasio.^[5]

Significación clínica

Existen 197 enfermedades descritas que coinciden con KCNE2^[6](p.e.:sídrome QT largo)^[7]

Referencias

↑ «Diseases that are genetically associated with KCNE2 view/edit references on wikidata».
↑ «Human PubMed Reference:».
↑ «Mouse PubMed Reference:».
↑ Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA (mayo de 1999). «MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia». Cell 97 (2): 175-87. PMID 10219239. doi:10.1016/S0092-8674(00)80728-X.
↑ «Gene group | HUGO Gene Nomenclature Committee». www.genenames.org. Consultado el 13 de octubre de 2025.
↑ «MalaCards». Consultado el 8 de enero de 2026.
↑ «Gene Cards». Consultado el 8 de enero de 2026.

Enlaces externos

En HomoloGene: KCNE2

En Genome:KCNE2
En MalaCards.Enfermedades que coinciden con:KCNE2
En Estudio de asociación del genoma completo (GWAS) KCNE2

Datos: Q14914047

[1] «Diseases that are genetically associated with KCNE2 view/edit references on wikidata».

[2] «Human PubMed Reference:».

[3] «Mouse PubMed Reference:».

[pmid10219239-4] Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA (mayo de 1999). «MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia». Cell 97 (2): 175-87. PMID 10219239. doi:10.1016/S0092-8674(00)80728-X.

[5] «Gene group | HUGO Gene Nomenclature Committee». www.genenames.org. Consultado el 13 de octubre de 2025.

[6] «MalaCards». Consultado el 8 de enero de 2026.

[7] «Gene Cards». Consultado el 8 de enero de 2026.

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