potassium voltage-gated channel subfamily Q member 1
Location:
11p15.5-p15.4
Also known as:
KVLQT1, Kv7.1, LQT, KCNA8, KCNA9, LQT1, JLNS1
Entrez ID:
3784
Ensembl ID:
ENSG00000053918
Summary:
This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
Overall distribution
Tissue specific distribution
Overall distribution
Tissue specific distribution
Gscore (Amp):
0.00
Gscore (Del):
0.17
Recurrently deleted in 1 cancer type(s)
Overall distribution
Tissue specific distribution
Mscore:
0.00
Overall
Tissue specific
Total fusion occurrence:
8
Fusions detected in 6 cancer type(s)
Overall
Tissue specific
Functional class:
Ion channel
JensenLab PubMed score:
800.22 (Percentile rank: 94.17%)
PubTator score:
891.02 (Percentile rank: 96.03%)
Target development/druggability level:
TclinThese targets have activities in DrugCentral (ie. approved drugs) with known mechanism of action.
Tractability (small molecule):
Clinical PrecedenceTargets with drugs in phase II or above; Pre-clinical targets
Tractability (antibody):
Predicted Tractable - High confidenceTargets located in the plasma membrane; Targets with GO cell component terms plasma membrane or secreted
