Human Gene KCNE2 (ENST00000290310.4) from GENCODE V44
Description: Homo sapiens potassium voltage-gated channel subfamily E regulatory subunit 2 (KCNE2), mRNA. (from RefSeq NM_172201) RefSeq Summary (NM_172201): Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a small integral membrane subunit that assembles with the KCNH2 gene product, a pore-forming protein, to alter its function. This gene is expressed in heart and muscle and the gene mutations are associated with cardiac arrhythmia. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000290310.4 Gencode Gene: ENSG00000159197.4 Transcript (Including UTRs) Position: hg38 chr21:34,364,006-34,371,381 Size: 7,376 Total Exon Count: 2 Strand: + Coding Region Position: hg38 chr21:34,370,479-34,370,850 Size: 372 Coding Exon Count: 1
ID:KCNE2_HUMAN DESCRIPTION: RecName: Full=Potassium voltage-gated channel subfamily E member 2; AltName: Full=MinK-related peptide 1; AltName: Full=Minimum potassium ion channel-related peptide 1; AltName: Full=Potassium channel subunit beta MiRP1; FUNCTION: Ancillary protein that assembles as a beta subunit with a voltage-gated potassium channel complex of pore-forming alpha subunits. Modulates the gating kinetics and enhances stability of the channel complex. Associated with KCNH2/HERG is proposed to form the rapidly activating component of the delayed rectifying potassium current in heart (IKr). May associate with KCNQ2 and/or KCNQ3 and modulate the native M-type current. May associate with KCNQ1/KVLTQ1 and elicit a voltage-independent current. May associate with HCN1 and HCN2 and increase potassium current. SUBUNIT: Associates with KCNH2/ERG1. May associate with KCNQ1/KVLQT1, KCNQ2 and KCNQ3. Associates with HCN1 and probably HCN2 (By similarity). SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Highly expressed in brain, heart, skeletal muscle, pancreas, placenta, kidney, colon and thymus. A small but significant expression is found in liver, ovary, testis, prostate, small intestine and leukocytes. Very low expression, nearly undetectable, in lung and spleen. DISEASE: Defects in KCNE2 are the cause of long QT syndrome type 6 (LQT6) [MIM:613693]. Long QT syndromes are heart disorders characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress. KCNE2 mutants form channels that open slowly and close rapidly, thereby diminishing potassium currents. DISEASE: Defects in KCNE2 are the cause of familial atrial fibrillation type 4 (ATFB4) [MIM:611493]. Atrial fibrillation is a common disorder of cardiac rhythm that is hereditary in a small subgroup of patients. It is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure. SIMILARITY: Belongs to the potassium channel KCNE family. WEB RESOURCE: Name=LQTSdb; Note=KCNE2 mutations page; URL="http://Www.ssi.dk/en/forskning/lqtsdb/kcne2.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNE2";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6J6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006813 potassium ion transport GO:0007568 aging GO:0010107 potassium ion import GO:0034765 regulation of ion transmembrane transport GO:0035690 cellular response to drug GO:0043586 tongue development GO:0060306 regulation of membrane repolarization GO:0060307 regulation of ventricular cardiac muscle cell membrane repolarization GO:0071435 potassium ion export GO:0071805 potassium ion transmembrane transport GO:0086002 cardiac muscle cell action potential involved in contraction GO:0086005 ventricular cardiac muscle cell action potential GO:0086009 membrane repolarization GO:0086011 membrane repolarization during action potential GO:0086091 regulation of heart rate by cardiac conduction GO:0098915 membrane repolarization during ventricular cardiac muscle cell action potential GO:1901379 regulation of potassium ion transmembrane transport GO:1901387 positive regulation of voltage-gated calcium channel activity GO:1901800 positive regulation of proteasomal protein catabolic process GO:1901979 regulation of inward rectifier potassium channel activity GO:1902159 regulation of cyclic nucleotide-gated ion channel activity GO:1902259 regulation of delayed rectifier potassium channel activity GO:1902260 negative regulation of delayed rectifier potassium channel activity GO:1903817 negative regulation of voltage-gated potassium channel activity
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