KCNT1 (potassium sodium-activated channel subfamily T member 1)

2016-10-01  

Identity

HGNC
KCNT1
LOCATION
9q34.3
LOCUSID
57582
ALIAS
DEE14,EIEE14,ENFL5,KCa4.1,SLACK,Slo2.2,bA100C15.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57582
MIM: 608167
HGNC: 18865
Ensembl: ENSG00000107147

Variants:

dbSNP: 57582
ClinVar: 57582
TCGA: ENSG00000107147
COSMIC: KCNT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107147ENST00000263604A0A0R4J2E0
ENSG00000107147ENST00000371757Q5JUK3
ENSG00000107147ENST00000460750F8WC49
ENSG00000107147ENST00000473941C9JBV2
ENSG00000107147ENST00000486577C9J9Y7
ENSG00000107147ENST00000487664Q5JUK3
ENSG00000107147ENST00000488444Q5JUK3
ENSG00000107147ENST00000490355C9JAX7
ENSG00000107147ENST00000491806C9JYL2
ENSG00000107147ENST00000628528Q5JUK3
ENSG00000107147ENST00000630792A0A0D9SFC8
ENSG00000107147ENST00000631073A0A0D9SEY3
ENSG00000107147ENST00000631193A0A0D9SFR1
ENSG00000107147ENST00000636003A0A1B0GWC7
ENSG00000107147ENST00000637082A0A1B0GW26

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
230863972012De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.110
230863962012Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy.94
244638832014Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.79
245910782014KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.49
254825622014Human slack potassium channel mutations increase positive cooperativity between individual channels.30
261227182015Mutations in KCNT1 cause a spectrum of focal epilepsies.27
240290782013A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.23
253393162014Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.16
261403132015De novo KCNT1 mutations in early-onset epileptic encephalopathy.15
267251132016Epilepsy-Related Slack Channel Mutants Lead to Channel Over-Activity by Two Different Mechanisms.14

Citation

Dessen P

KCNT1 (potassium sodium-activated channel subfamily T member 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56032/kcnt1