Search
HERG K+ channel gene
Gene mutation is associated with the long QT syndrome.
Related
long QT syndrome
General
unclassified gene
Properties
TEMPLATE-FOR: K+ voltage-gated channel subfamily H member 2
COMPARTMENT: plasma membrane
MOTIF: cytoplasmic domain {1-403}
MOTIF: PAS domain {41-70}
PAC domain {92-144}
proline-rich region
SITE: 297-300
MOTIF: proline residue (SEVERAL)
Ser phosphorylation site {S320}
transmembrane domain {404-424}
exoplasmic loop {425-450}
transmembrane domain {451-471}
cytoplasmic loop {472-495}
transmembrane domain {496-516}
exoplasmic loop {517-520}
transmembrane domain {521-541}
cytoplasmic loop {542-547}
transmembrane domain {548-568}
exoplasmic loop {569-638}
MOTIF: N-glycosylation site {N598}
H5 {612-632}
Selectivity filter {624-629}
transmembrane domain {639-659}
cytoplasmic domain {660-1159}
MOTIF: cyclic nucleotide-binding site
SITE: 742-842
ION-PERMEABILITY: K+
LOCUS: human chromosome-7 Q
MOTIF: transcription factor binding site
transcriptional start site
exon
intron
transcriptional termination site
Database Correlations
OMIM 152427
MORBIDMAP 152427
References
Medical Knowledge Self Assessment Program (MKSAP) 11, American
College of Physicians, Philadelphia 1998