KCNJ2

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, probably participates in establishing action potential waveform and excitability of neuronal and muscle tissues. Mutations in this gene have been associated with Andersen syndrome, which is characterized by periodic paralysis, cardiac arrhythmias, and dysmorphic features. [provided by RefSeq, Jul 2008]

Description

Potassium inwardly rectifying channel subfamily J member 2

Tissue specificity

Tissue enhanced (brain, parathyroid gland)

Predicted location

Membrane

Protein family

Disease related genes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Chromosome

17 (70168673 - 70180044)

Ensembl ID

ENSG00000123700  (ver. 103.38)

Orthologs

Mouse Kcnj2: ENSMUSG00000041695

UniProt

P63252

neXtProt

NX_P63252

Human splice variants
Mouse splice variants

Protein structure