KvLQT2

KCNQ2
Identifiers
Aliases	KCNQ2, BFNC, BFNS1, EBN, EBN1, EIEE7, ENB1, HNSPC, KCNA11, KV7.2, KVEBN1, potassium voltage-gated channel subfamily Q member 2, DEE7
External IDs	OMIM: 602235; MGI: 1309503; HomoloGene: 26174; GeneCards: KCNQ2; OMA:KCNQ2 - orthologs
Gene location (Human)
Chr.	Chromosome 20 (human)
End	63,472,677 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	180,777,093 bp
RNA expression pattern
	Top expressed in
	right hemisphere of cerebellum; ; right frontal lobe; ; right testis; ; ganglionic eminence; ; amygdala; ; left testis; ; nucleus accumbens; ; dorsolateral prefrontal cortex; ; superior frontal gyrus; ; caudate nucleus;
	Top expressed in
	Region I of hippocampus proper; ; CA3 field; ; perirhinal cortex; ; entorhinal cortex; ; subiculum; ; dentate gyrus; ; primary visual cortex; ; nucleus accumbens; ; facial motor nucleus; ; superior frontal gyrus;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	ankyrin binding; ion channel activity; voltage-gated ion channel activity; voltage-gated potassium channel activity; potassium channel activity; calmodulin binding; protein binding; delayed rectifier potassium channel activity;
Cellular component	axon initial segment; node of Ranvier; membrane; integral component of membrane; integral component of plasma membrane; voltage-gated potassium channel complex; plasma membrane;
Biological process	regulation of ion transmembrane transport; ion transport; transmembrane transport; nervous system development; chemical synaptic transmission; potassium ion transport; potassium ion transmembrane transport;
	Sources:Amigo / QuickGO
Orthologs
	3785
	16536
	ENSG00000075043; ENSG00000281151
	ENSMUSG00000016346
	O43526
	Q9Z351
NM_004518; NM_172106; NM_172107; NM_172108; NM_172109;
	NM_001382235
NM_001003824; NM_001003825; NM_001006668; NM_001006669; NM_001006674;
	NM_001006675; NM_001006676; NM_001006677; NM_001006678; NM_001006679; NM_001006680; NM_010611; NM_001302888
NP_004509; NP_742104; NP_742105; NP_742106; NP_742107;
	NP_001369164
NP_001003824; NP_001003825; NP_001006669; NP_001006670; NP_001006675;
	NP_001289817; NP_034741
	Wikidata
View/Edit Human	View/Edit Mouse

K_v7.2 (KvLQT2) is a voltage- and lipid-gated potassium channel protein coded for by the gene KCNQ2.

Mutations in the KCNQ2 gene are dominant autosomally inherited causes of benign familial neonatal epilepsy.^[5]

^ ^a ^b ^c ENSG00000281151 GRCh38: Ensembl release 89: ENSG00000075043, ENSG00000281151 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000016346 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Adam, M. P.; Feldman, J.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Amemiya, A.; Miceli, F.; Soldovieri, M. V.; Weckhuysen, S.; Cooper, E.; Taglialatela, M. (1993). "KCNQ2-Related Disorders". National Library of Medicine. GeneReviews. PMID 20437616. Retrieved 8 September 2024.

[refGRCh38Ensembl-1] ENSG00000281151 GRCh38: Ensembl release 89: ENSG00000075043, ENSG00000281151 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000016346 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Adam, M. P.; Feldman, J.; Mirzaa, G. M.; Pagon, R. A.; Wallace, S. E.; Amemiya, A.; Miceli, F.; Soldovieri, M. V.; Weckhuysen, S.; Cooper, E.; Taglialatela, M. (1993). "KCNQ2-Related Disorders". National Library of Medicine. GeneReviews. PMID 20437616. Retrieved 8 September 2024.

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