Disease-gene associations mined from literature

Literature associating KCNN2 and autosomal dominant dyskeratosis congenita 3

KCNN2 [ENSP00000427120]

Potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2; Forms a voltage-independent potassium channel activated by intracellular calcium. Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization. The channel is blocked by apamin; Belongs to the potassium channel KCNN family. KCa2.2/KCNN2 subfamily.

Synonyms:  KCNN2,  KCNN2p,  hKCNN2,  D6RGY7,  KCNN2-001 ...

Linkouts:  STRING  Pharos  UniProt