KCNN2 (potassium calcium-activated channel subfamily N member 2)

2014-11-01  

Identity

HGNC
LOCATION
5q22.3
LOCUSID
ALIAS
KCa2.2,SK2,SKCA2,SKCa 2,hSK2
FUSION GENES

Other Information

Locus ID:

NCBI: 3781
MIM: 605879
HGNC: 6291
Ensembl: ENSG00000080709

Variants:

dbSNP: 3781
ClinVar: 3781
TCGA: ENSG00000080709
COSMIC: KCNN2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080709ENST00000264773Q9H2S1
ENSG00000080709ENST00000503706Q9H2S1
ENSG00000080709ENST00000505491D6RGY7
ENSG00000080709ENST00000512097A0A3F2YNY5
ENSG00000080709ENST00000610748Q9H2S1
ENSG00000080709ENST00000631899A0A0J9YW81

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Serotonergic synapseKEGGhsa04726
Insulin secretionKEGGhsa04911
Neuronal SystemREACTOMER-HSA-112316
Potassium ChannelsREACTOMER-HSA-1296071
Ca2+ activated K+ channelsREACTOMER-HSA-1296052

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
365029182023Preferential formation of human heteromeric SK2:SK3 channels limits homomeric SK channel assembly and function.2
367171042023Loss-of-function K(Ca)2.2 mutations abolish channel activity.2
375102852023A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis.2
365029182023Preferential formation of human heteromeric SK2:SK3 channels limits homomeric SK channel assembly and function.2
367171042023Loss-of-function K(Ca)2.2 mutations abolish channel activity.2
375102852023A Novel KCNN2 Variant in a Family with Essential Tremor Plus: Clinical Characteristics and In Silico Analysis.2
333100412021HDAC2-dependent remodeling of K(Ca)2.2 (KCNN2) and K(Ca)2.3 (KCNN3) K(+) channels in atrial fibrillation with concomitant heart failure.7
333100412021HDAC2-dependent remodeling of K(Ca)2.2 (KCNN2) and K(Ca)2.3 (KCNN3) K(+) channels in atrial fibrillation with concomitant heart failure.7
322123502020KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.12
328608352020SK2 channel regulation of neuronal excitability, synaptic transmission, and brain rhythmic activity in health and diseases.15
332428812020Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.20
322123502020KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.12
328608352020SK2 channel regulation of neuronal excitability, synaptic transmission, and brain rhythmic activity in health and diseases.15
332428812020Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.20
309225692019Role of SK channel activation in determining the action potential configuration in freshly isolated human atrial myocytes from the SKArF study.6

Citation

Dessen P

KCNN2 (potassium calcium-activated channel subfamily N member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64804/