KCND3 (potassium voltage-gated channel subfamily D member 3)

2003-05-01  

Identity

HGNC
KCND3
LOCATION
1p13.2
LOCUSID
3752
ALIAS
BRGDA9,KCND3L,KCND3S,KSHIVB,KV4.3,SCA19,SCA22
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3752
MIM: 605411
HGNC: 6239
Ensembl: ENSG00000171385

Variants:

dbSNP: 3752
ClinVar: 3752
TCGA: ENSG00000171385
COSMIC: KCND3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171385ENST00000302127Q9UK17
ENSG00000171385ENST00000302127A0A024R0C6
ENSG00000171385ENST00000315987Q9UK17
ENSG00000171385ENST00000369697Q9UK17
ENSG00000171385ENST00000369697A0A024R0C6

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Voltage gated Potassium channelsREACTOMER-HSA-1296072
Muscle contractionREACTOMER-HSA-397014
Cardiac conductionREACTOMER-HSA-5576891
Phase 1 - inactivation of fast Na+ channelsREACTOMER-HSA-5576894

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
213493522011Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
122973012002Modulation of Kv4.3 current by accessory subunits.60
154988062004Transmural expression of transient outward potassium current subunits in normal and failing canine and human hearts.53
158907032005Expression and function of dipeptidyl-aminopeptidase-like protein 6 as a putative beta-subunit of human cardiac transient outward current encoded by Kv4.3.48
232808372012Mutations in KCND3 cause spinocerebellar ataxia type 22.42
192139562009Kv4 potassium channels form a tripartite complex with the anchoring protein SAP97 and CaMKII in cardiac myocytes.39
232808382012Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.39
234007602013A novel KCND3 gain-of-function mutation associated with early-onset of persistent lone atrial fibrillation.27
224570512012Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.20

Citation

Dessen P

KCND3 (potassium voltage-gated channel subfamily D member 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41047/kcnd3