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FLASH GENE

Symbol

KCNQ3

contributors: mct/npt/pgu - updated : 15-07-2008

HGNC name	potassium voltage-gated channel, KQT-like subfamily, member 3
HGNC id	6297

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBN2 benign familial neonatal convulsions, 2 EJM2 myoclonic epilepsy, juvenile, 2
Location	8q24      Physical location : 133.141.256 - 133.493.004
Synonym name	voltage-gated potassium channel subunit Kv7.3
	potassium channel subunit alpha KvLQT3
	epilepsy, benign neonatal 2 (benign familial neonatal convulsions 2)
Synonym symbol(s)	BFNC2, EBN2, BFNC, EBN2, KV7.3

DNA

TYPE	functioning gene
STRUCTURE	351.00 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 15 - 3097 96.7 872 - 2008 18166285

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth         Nervous brain diencephalon hypothalamus       brain forebrain cerebral cortex       brain hindbrain cerebellum cerebellar cortex   Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central       Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	six membrane spanning domains
	an hydrophobic pore (Ploop), flanked by TM domains 5 and 6, sensitive to changes in membrane potential

HOMOLOGY

Homologene

FAMILY	potassium channel family
	KQT subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane
text	located in or toward the apical membrane of the cells

basic FUNCTION	potassium voltage-gated channel, playing a critical role in the regulation of neuronal excitability
	member of axonal Kv7 channels that are critically and uniquely required for determining the inherent spontaneous firing of hippocampal CA1 pyramids, independently of alterations in synaptic activity
	role of a number of KCNQ channel members in controlling basal anion secretion in the airway epithelium
	KCNQ2/3 channels could be an important regulator in neuronal apoptosis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

M channel constituent (coassembling with KCNQ2 and KCNQ5)

INTERACTION

DNA

RNA

small molecule

protein

targeted to the axon initial segment of hippocampal neurons by association with ankyrin G

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBN2 , EJM2

Susceptibility

to idiopathic epilepsy

Variant & Polymorphism SNP	missense variant p.Pro574Ser was detected in idiopathic epilepsy

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS