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FLASH GENE

Symbol

KCND3

contributors: mct - updated : 27-08-2014

HGNC name	potassium voltage-gated channel, Shal-related subfamily, member 3
HGNC id	6239

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BRGS9 Brugada syndrome 9 SCA19 spinocerebellar ataxia 19
Location	1p13.2      Physical location : 112.318.453 - 112.531.777
Synonym symbol(s)	KSHIVB, KV4.3, KCND3L, KCND3S

DNA

TYPE	functioning gene
STRUCTURE	213.00 kb     8 Exon(s)

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

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	a long isoform 3L and a short isoform 3S, one spliced variant inserting 19 AA with a consensus protein kinase C phosphorylation site

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 2693 variant 1 73.45 655 . predominating in most tissues . detected at similar levels as isoform 2 in brain, skeletal muscle and pancreas Isbrandt an 8 exons variant encoding for the longest isoform also called KCND3L variant 2 - splicing 2636 variant 2 71.26 636 . detected at similar levels as isoform 1 in brain, skeletal muscle and pancreas Dilks a 7 exons variant lacking exon 6 encoding for the shortest product also called KCND3S

EXPRESSION

Type

widely

constitutive of

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 Cardiovascular heart       highly Digestive liver       lowly Endocrine pancreas       lowly Nervous brain       highly   brain diencephalon amygdala   highly   brain forebrain cerebral cortex   highly   brain hindbrain cerebellum   highly   brain basal nuclei caudate nucleus   highly Urinary kidney       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal   lowly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an intracellular N and C termini
	six transmembrane segments (6TM)
	a pore region between S5 and S6
	a phosphorylation site on exon 5
	a probably voltage-sensor S4 segment

mono polymer

complex

HOMOLOGY

interspecies	homolog to dog KCND3 (98.78 pc)
	homolog to chimpanzee KCND3 (97.56 pc)
	homolog to chicken KCND3 (94.96 pc)
	homolog to rattus Kcnd3 (99.06 pc)
	homolog to murine Kcnd3 (99.39 pc)

Homologene

FAMILY	potassium channel family
	D (Shal) subfamily

CATEGORY

transport channel

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in setting the frequency of neuronal firing and heart pacing
	initial phase of repolarization and setting the plateau voltage of the ventricular actin potential
	inhibiting expression of Shaw channels

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cardiovascular

PATHWAY

metabolism

signaling

a component

alpha subunit underlying I (TD) (transient outward) K+ current

INTERACTION

DNA

RNA

small molecule

protein

interacting with KCNE1, KCNE2, SCN1B and KCNAB1

cell & other

REGULATION

inhibited by	by estrogen
	KCNE3 by reducing the KCND3 current amplitude and slowing down the channel activation and inactivation

Other

modulated by STX1A

ASSOCIATED DISORDERS

corresponding disease(s)

SCA19 , BRGS9

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

dog