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
340671852021Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.6
340671852021Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K(V)4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.6
327091272020Inter-Regulation of K(v)4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.9
328189362020A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome.3
327091272020Inter-Regulation of K(v)4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies.9
328189362020A Novel Gain-of-Function KCND3 Variant Associated with Brugada Syndrome.3
307766972019Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.15
312930102019Novel SCA19/22-associated KCND3 mutations disrupt human K(V) 4.3 protein biosynthesis and channel gating.8
316001702019KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.7
307766972019Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome.15
312930102019Novel SCA19/22-associated KCND3 mutations disrupt human K(V) 4.3 protein biosynthesis and channel gating.8
316001702019KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.7
301603582018SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.4
301603582018SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.4
292592262017Kv4.3 Modulates the Distribution of hERG.4

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