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inwardly-rectifying K+ channel J2; K+ channel, inwardly rectifying subfamily J member 2; inward rectifier K+ channel Kir2.1; cardiac inward rectifier K+ channel; IRK1 (KCNJ2, HIRK1)
Function:
- inwardly-rectifying K+ channel
- probably participates in establishing action potential waveform & excitability of neuronal & muscle tissues
- can be blocked by extracellular Ba+2 or Cs+2
- homomultimeric & heteromultimeric association with Kir2.3, resulting in an enhanced G-protein-induced current
- association, via its PDZ-recognition domain, with LIN7A, LIN7B, LIN7C, DLG1, CASK & APBA1 plays a key role in its localization & trafficking (putative)
- cardiac inward rectifier
Structure:
- belongs to the inward rectifier-type K+ channel family
Compartment: membrane
Expression:
- heart, brain, placenta, lung, skeletal muscle, & kidney
- diffusely distributed throughout the brain
Pathology:
- defects in KCNJ2 are the cause of
a) long QT syndrome type 7
b) short QT syndrome type 3
General
inwardly-rectifying K+ channel subfamily J
Properties
SIZE: MW = 48 kD
entity length = 427 aa
COMPARTMENT: cellular membrane
MOTIF: cytoplasmic domain {1-81}
transmembrane domain {82-106}
exoplasmic loop {107-156}
MOTIF: H5 (pore-forming helix) {129-140}
peptide motif {142-147}
transmembrane domain {157-178}
cytoplasmic domain {179-427}
ION-PERMEABILITY: K+
Database Correlations
OMIM correlations
MORBIDMAP 600681
UniProt P63252
PFAM correlations
Entrez Gene 3759
Kegg hsa:3759
References
- UniProt :accession P63252
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/KCNJ2