Entity Details

Primary name KCNN4
Entity type gene
Source Source Link

Details

PrimaryID3783
RefseqGeneNG_052672
SymbolKCNN4
Namepotassium calcium-activated channel subfamily N member 4
Chromosome19
Location19q13.31
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsKCNN4_HUMAN

GO terms

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GOName
GO:0002376 immune system process
GO:0005516 calmodulin binding
GO:0005886 plasma membrane
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006816 calcium ion transport
GO:0006884 cell volume homeostasis
GO:0006952 defense response
GO:0008076 voltage-gated potassium channel complex
GO:0015269 calcium-activated potassium channel activity
GO:0016286 small conductance calcium-activated potassium channel activity
GO:0019903 protein phosphatase binding
GO:0022894 Intermediate conductance calcium-activated potassium channel activity
GO:0030322 stabilization of membrane potential
GO:0031982 vesicle
GO:0043005 neuron projection
GO:0043025 neuronal cell body
GO:0045332 phospholipid translocation
GO:0046541 saliva secretion
GO:0050714 positive regulation of protein secretion
GO:0050862 positive regulation of T cell receptor signaling pathway
GO:0071805 potassium ion transmembrane transport
GO:1901381 positive regulation of potassium ion transmembrane transport

Diseases

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Disease IDSourceNameDescription
616689 OMIMDehydrated hereditary stomatocytosis 2 (DHS2)An autosomal dominant hemolytic anemia characterized by primary erythrocyte dehydration. Erythrocytes exhibit decreased total cation and potassium content that are not accompanied by a proportional net gain of sodium and water. Affected individuals typically manifest mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration. Their red cells exhibit a panel of various shape abnormalities such as elliptocytes, hemighosts, schizocytes, and very rare stomatocytic cells. Complications such as splenomegaly and cholelithiasis, resulting from increased red cell trapping in the spleen and elevated bilirubin levels, respectively, may occur. The disease is caused by variants affecting the gene represented in this entry.