KCNT2 (potassium sodium-activated channel subfamily T member 2)

2014-11-01  

Identity

HGNC
LOCATION
1q31.3
LOCUSID
ALIAS
DEE57,EIEE57,KCa4.2,SLICK,SLO2.1
FUSION GENES

Other Information

Locus ID:

NCBI: 343450
MIM: 610044
HGNC: 18866
Ensembl: ENSG00000162687

Variants:

dbSNP: 343450
ClinVar: 343450
TCGA: ENSG00000162687
COSMIC: KCNT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162687ENST00000294725Q6UVM3
ENSG00000162687ENST00000294725A9LNM6
ENSG00000162687ENST00000367433Q6UVM3
ENSG00000162687ENST00000451324Q3SY61
ENSG00000162687ENST00000466914V9GZ63
ENSG00000162687ENST00000609185Q6UVM3
ENSG00000162687ENST00000647658A0A3B3IRL4

Expression (GTEx)

0
5
10
15

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712563BisphosphonatesChemicalClinicalAnnotationassociatedPD
PA445187OsteonecrosisDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
270231752016Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium.40
253472892014Cell volume changes regulate slick (Slo2.1), but not slack (Slo2.2) K+ channels.9
276829822017Molecular mechanisms of Slo2 K+ channel closure.3
315578822019Common Nevus and Skin Cutaneous Melanoma: Prognostic Genes Identified by Gene Co-Expression Network Analysis.3
146848702003Slick (Slo2.1), a rapidly-gating sodium-activated potassium channel inhibited by ATP.0
241668782013Structural basis of ion permeation gating in Slo2.1 K+ channels.0
259031372015Identification of the Intracellular Na+ Sensor in Slo2.1 Potassium Channels.0
267242062016Hydrophobic interactions between the S5 segment and the pore helix stabilizes the closed state of Slo2.1 potassium channels.0
282221292017Heteromeric Slick/Slack K+ channels show graded sensitivity to cell volume changes.0
290696002017A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy.0

Citation

Dessen P

KCNT2 (potassium sodium-activated channel subfamily T member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64813/kcnt2-(potassium-sodium-activated-channel-subfamily-t-member-2)