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FLASH GENE

Symbol

KCNA2

contributors: mct - updated : 05-07-2016

HGNC name	potassium voltage-gated channel, shaker-related subfamily, member 2
HGNC id	6220

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EIEE32 epileptic encephalopathy, early infantile, 32
Location	1p13.3      Physical location : 111.145.776 - 111.148.345
Synonym name	voltage-gated potassium channel protein Kv1.2
	potassium channel
Synonym symbol(s)	HK4, KV1, HBK5, HUKIV, KV1.2, MGC50217, MK2, NGK1, RBK2, EIEE32

DNA

TYPE	functioning gene
STRUCTURE	37.96 kb     3 Exon(s)

Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004974 3 - 2267 NP_004965 - 499 - 2015 25477152 NM_001204269 5 - 2022 NP_001191198 - 356 - 2015 25477152

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           ganglia sensory ganglia dorsal root     Visual eye

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol 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	transmembrane (TM) protein with six putative membrane-spanning domains
	an hydrophobic pore including the P domain with the K+ channel signature, flanked by TM domains 5 and 6, sensitive to changes in membrane potential
	extreme C-terminal end of the S6 inner helix plays an important regulatory role in the activation of the C-terminal-truncated KCNA2 channel

secondary structure

transmembrane part of the S6 inner helix of the KCNA2 potassium channel is a pivotal part in sustaining channel activity

mono polymer

tetramer , complex

HOMOLOGY

interspecies	homolog to murine Kv1.2
	homolog to Drosophila shaker-related subfamily

Homologene

FAMILY	potassium channel family
	A (Shaker) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	abundantly expressed in the large axon terminals of basket cells that make powerful axo-somatic synapses onto Purkinje cells

basic FUNCTION	potassium voltage-gated channel activity
	plays an important role in modulating membrane potential
	in dorsal root ganglion neurons, plays a central role in nociception and is involved in the generation of neuropathic pain
	KCNA1, KCNA2 plays an essential role in the initiation and shaping of action potentials, influencing action potential firing patterns and controlling neuronal excitability

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

tetramer forming a complex through its cytoplasmic segment T1 facing the membrane pore with four beta subunits forming the associated cytoplasmic auxiliary subunits

INTERACTION

DNA

RNA

small molecule

protein	associating with the N terminus region of alpha subunit
	myelin regulates both trafficking and activity of KCNA1, KCNA2 channels along hippocampal axons through CNTN2

cell & other

REGULATION

repressed by

BMP2 that significantly (>2-fold) downregulated mRNA expression of KCNA29)

Other

is regulated by two distinct cAMP pathways, one PKA-dependent and the other PKA-independent (homeostasis of Kv1.2 expression in the plasma membrane is dependent on a critical balance of cAMP levels within the cell)

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE32

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed miscelleaneous pain   may be a novel potential target for preventing and/or treating neuropathic pain

ANIMAL & CELL MODELS

	mice carrying the Pgu mutant allele of Kcna2 exhibit dominantly inherited chronic motor incoordination, due at least in part to an enhanced GABAergic inhibitory tone from basket cells onto Purkinje cells in the cerebellum
	Kcna1, Kcna2 knockout mice both have seizures beginning early in development