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FLASH GENE

Symbol

KCNC3

contributors: mct - updated : 25-08-2011

HGNC name	potassium voltage-gated channel, Shaw-related subfamily, member 3
HGNC id	6235

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	SCA13 spinocerebellar ataxia 13
Location	19q13.3      Physical location : 50.818.764 - 50.832.634
Synonym name	voltage-gated potassium channel protein KV3.3
Synonym symbol(s)	KSHIIID, KV3.3, SCA13

DNA

TYPE	functioning gene
STRUCTURE	13.00 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

RNA

TRANSCRIPTS	type	messenger

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 parathyroid         Lymphoid/Immune lymph node         Nervous brain diencephalon thalamus nuclei highly Homo sapiens Reproductive female system uterus       Respiratory respiratory tract larynx       Urinary kidney

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Nervous central     highly Homo sapiens

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
	a segment s4 is probably the voltage-sensor and characterized by a series of positively charged amino acids at every third position
	a tail may be important in modulation of channel activity and/or targeting of the channel to specific subcellular compartments

HOMOLOGY

interspecies	homolog to murine Kv3.3
	homolog to Drosophila Shaw-related family

Homologene

FAMILY

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

mediating the voltage-dependent potassium ion permeability of excitable membranes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterotetramer of potassium channel proteins

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

activated by

BMP2 that significantly (>2-fold) upregulated mRNA expression of KCNC3

ASSOCIATED DISORDERS

corresponding disease(s)

SCA13

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Kv3.1/Kv3.3-deficient mice display severe sleep loss as a result of unstable slow-wave sleep