DISEASES

Disease-gene associations mined from literature

Literature associating KCNIP2 and congenital myasthenic syndrome 5

KCNIP2 [ENSP00000420040]

Cardiac voltage-gated potassium channel modulatory subunit; Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels. Modulates channel density, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. In vitro, modulates KCND2/Kv4.2 and KCND3/Kv4.3 currents. Involved in KCND2 and KCND3 trafficking to the cell surface. May be required for the expression of I(To) currents in the heart (By similarity); EF-hand domain containing

Synonyms:  KCNIP2,  KCNIP2p,  hKCNIP2,  A6NFF4,  Q3YAC7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM