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FLASH GENE

Symbol

KCNQ2

contributors: mct - updated : 27-09-2011

HGNC name	potassium voltage-gated channel, KQT-like subfamily, member 2
HGNC id	6296

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EBN1 benign familial neonatal convulsions, 1 EIEE7 epileptic encephalopathy, early infantile, 7
Location	20q13.33      Physical location : 62.037.541 - 62.103.993
Synonym name	neuroblastoma-specific potassium channel protein
	voltage-gated potassium channel subunit Kv7.2
	KQT-like 2
Synonym symbol(s)	BFNC, ENB1, HNSPC, KV7.2, KCNA11, KVEBN1, EBN

DNA

TYPE	functioning gene
STRUCTURE	66.45 kb     17 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	four alternatively spliced isoforms in brain (PMID: 9827540)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_172107 17 - 3251 NP_742105 95 872 - 2007 17475800 isoform a NM_172106 16 splicing 3197 NP_742104 - 854 - 2007 17475800 isoform b NM_172109 8 splicing 1425 NP_742107 - 393 adult brain lowly, testis, fetal brain highly, brain tumors 2007 17475800 isoform e NM_004518 15 splicing 3167 NP_004509 - 844 adult and fetal brain 2007 17475800 isoform c NM_172108 16 splicing 3158 NP_742106 - 841 - 2007 17475800 isoform d

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 Nervous brain forebrain cerebral lobe temporal   nervous brain basal nuclei putamen     Nervous brain diencephalon hypothalamus       brain forebrain cerebral cortex       brain hindbrain cerebellum cerebellar cortex     ganglia sensory ganglia dorsal root   highly Homo sapiens

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

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

conjugated

PhosphoP

mono polymer

heteromer , polymer

HOMOLOGY

interspecies

homolog to murine Kcnq2

Homologene

FAMILY	potassium channel family
	KQT subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	playing an important role in the regulation of neuronal excitability
	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
	acting as a Ca2+ sensor
	KCNQ2/3 channels could be an important regulator in neuronal apoptosis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

neurotransmission

synaptic transmission

a component	M channel constituent (coassembling with KCNQ3)
	heteromultimer with KCNQ3 (ORKCNE2)

INTERACTION

DNA

RNA

small molecule

protein

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

cell & other

REGULATION

repressed by

REST, which is known to suppress KCNQ2 expression

Other

trafficking is regulated by calmodulin binding to the c-terminal A and B helices

ASSOCIATED DISORDERS

corresponding disease(s)

EBN1 , EIEE7

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   substantial downregulation of its expression in neuropathic injury

Susceptibility

to idiopathic epilepsy

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

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS