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KCNN3

Chr 1q21.3

potassium calcium-activated channel subfamily N member 3

Aliases:
KCa2.3, hSK3, SKCA3
MANE:
ENST00000271915.9

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Limb disorders

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Ductal plate malformation

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Zimmermann-Laband syndrome 3

    0.68
  • Zimmermann-Laband syndrome

    0.67
  • atrial fibrillation

    0.37
  • hereditary disease

    0.34
  • atrial flutter

    0.33
  • cardiac arrhythmia

    0.31
  • heart disorder

    0.28
  • alcohol drinking

    0.27
  • chronic obstructive pulmonary disease

    0.26
  • prostate carcinoma

    0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Small conductance calcium-activated potassium channel protein 3

Small conductance calcium-activated potassium channel that mediates the voltage-independent transmembrane transfer of potassium across the cell membrane through a constitutive interaction with calmodulin which binds the intracellular calcium allowing its opening (PubMed:12808432, PubMed:20562108, PubMed:31155282, PubMed:36502918). The current is characterized by a voltage-independent activation, an intracellular calcium concentration increase-dependent activation and a single-channel conductance of 10 picosiemens (PubMed:12808432, PubMed:20562108, PubMed:31155282, PubMed:36502918). Also presents an inwardly rectifying current, thus reducing its already small outward conductance of potassium ions, which is particularly the case when the membrane potential displays positive values, above + 20 mV (PubMed:12808432). Activation is followed by membrane hyperpolarization. Thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.