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FLASH GENE

Symbol

KCNC2

contributors: mct - updated : 12-06-2024

HGNC name	potassium voltage-gated channel, Shaw-related subfamily, member 2
HGNC id	6234

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEE103 developmental and epileptic encephalopathy 103
Location	12q21.1      Physical location : 75.433.896 - 75.603.511
Synonym name	Shaw-related voltage-gated potassium channel protein 2
	Kv3.2d voltage-gated potassium channel
Synonym symbol(s)	KV3.2, MGC138196

DNA

TYPE	functioning gene
STRUCTURE	170.74 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_139136 6 - 3572 NP_631874 - 613 - 2020 32392612 NM_139137 5 - 5512 NP_631875 - 638 - 2020 32392612 NM_153748 5 - 3491 NP_715624 - 558 - 2020 32392612 NM_001260498 5 - 3477 NP_001247427 - 629 - 2020 32392612 NM_001260499 4 - 5347 NP_001247428 - 583 - 2020 32392612 NM_001260497 5 - 6084 NP_001247426 - 618 - 2020 32392612 NM_001414193 5 - 5557 NP_001401122 - 625 - 2020 32392612 NM_001414194 5 - 5545 NP_001401123 - 621 - 2020 32392612 NM_001414202 6 - 5700 NP_001401131 - 612 - 2020 32392612 NM_001414206 6 - 6272 NP_001401135 - 612 - 2020 32392612 NM_001414195 5 - 3267 NP_001401124 - 613 - 2020 32392612

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 Endocrine neuroendocrine pituitary       Nervous brain forebrain cerebral cortex     Mus musculus Fetal   brain forebrain cerebral cortex     Mus musculus Adult   brain limbic system hippocampus     Mus musculus Fetal   brain limbic system hippocampus     Mus musculus Adult Olfactory (smell) olfactory bulb         Mus musculus Adult Reproductive male system prostate

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	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

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies	homolog to murine Kv3.2
	homolog to Drosophila Shaw-related family

Homologene

FAMILY	potassium channel family
	c (shaw) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane,junction

basic FUNCTION	mediating the voltage-dependent potassium ion permeability of excitable membranes
	KCNC2, CACNA1G regulate thalamic relay neuron sensory transmission and each channel subtype controls a different stimulus-response curve property

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEE103

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     of KCNC2 and ATXN7L3B, leading to neurodevelopmental delay and cerebellar ataxia constitutional     --low   could play a role in the cognitive symptoms of Alzheimer disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS