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FLASH GENE

Symbol

KCNN3

contributors: mct/npt - updated : 20-06-2019

HGNC name	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
HGNC id	6292

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ZLS3 Zimmerman-Laband Syndrome 3
Location	1q21.3      Physical location : 154.679.916 - 154.842.754
Synonym name	small conductance calcium-activated potassium channel protein 3
Synonym symbol(s)	SKCA3, SK3, KCa2.3, K3

DNA

TYPE	functioning gene
STRUCTURE	162.85 kb     8 Exon(s)

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

regulatory sequence	Binding site
text structure	two arrays of CAG trinucleotide repeats (polymorphism)binding sites for IK2, NKX25, NFAT, USF, CREB, BRN2, MZF1, VBP, MFM2 and several potential AP-1 and AP-4 sites

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_002249 8 - 3060 NP_002240 - 731 - Wittekindt (1998) NM_170782 8 - 1981 NP_740752 - 426 - Wittekindt (1998)

EXPRESSION

Type

constitutive of

expressed in	(based on citations)
organ(s)

tissue

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

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	intracellular N and C termini
	six highly conserved transmembrane segments
	two arrays of polyglutamine (CAG trinucleotide) repeats in the N terminal region

mono polymer

heteromer , octamer

HOMOLOGY

interspecies

homolog to murine Kcnn3

Homologene

FAMILY

potassium channel KCNN family

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	playing a role in determining the firing pattern of neurons
	forming a voltage-independent potassium channel activated by intracellular calcium
	potassium channel protein involved in atrial repolarization (Ellinor 2010)
	KCNN3 channel might be the only member of the Ca(2+)-activated K(+) channel family involved in melanoma cell motility pathways (Chantome 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	neurogenesis
	potassium transport

PATHWAY

metabolism

signaling

neurotransmission

synaptic transmission

a component	heterooligomer complex composed of four channel subunits, each of which binds to a calmodulin subunit regulating the channel activity through calcium-binding
	ABI1 and the neural WASL, forms a complex with KCNN3- channels in neural stem cells, involved in early neurogenesis

INTERACTION

DNA

RNA

small molecule

protein

KCNN3 and calmodulin subunit

cell & other

REGULATION

activated by

Ca2+

inhibited by

apamin

ASSOCIATED DISORDERS

corresponding disease(s)

ZLS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   has a critical role in the increased Ca(2+)-induced fragility in DM1 cells, leading to impaired growth through a greater calcium-induced fragility (Rhodes 2006)

Susceptibility

to anorexia nervosa to juvenile myoclonic epilepsy to atrial fibrillation (AF)

Variant & Polymorphism SNP , repeat	polymorphic CAG repeat (19 to 28 repeats)contributor to anorexia nervosa
	polymorphic CAG repeat (16 to 19 repeats) increase susceptibility to juvenile myoclonic epilepsy
	SNP acting as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patient (Rinaldi 2008)

Candidate gene
Marker
Therapy target	potential direct or indirect target for the pharmacological treatment of AF may also merit further investigation (Ellinor 2010)

ANIMAL & CELL MODELS

absence or overexpression of KCNN3 (Bond,2000)