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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for KCNQ1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3784
Official gene symbolKCNQ1
Full namepotassium voltage-gated channel, KQT-like subfamily, member 1
Aliases,ATFB1,ATFB3,FLJ26167,JLNS1,KCNA8,KCNA9,KVLQT1,Kv1.9,Kv7.1,LQT,LQT1,RWS,SQT2,WRS,
Gene summaryThis gene encodes a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that contains a number of contiguous genes, which are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. This gene is also imprinted, with preferential expression from the maternal allele in some tissues, excluding cardiac muscle. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq]
LocationChromosome: 11   Locus: 11p15.5
Gene position2466221 - 2870340  Map Viewer
Gene orientationplus
Gene size404120 bp
Gene sequence
OMIM ID607542