Human Gene KCNE2 (ENST00000290310.4_5) from GENCODE V47lift37 |
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 Sequence and Links to Tools and Databases
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Comments and Description Text from UniProtKB
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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";
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Primer design for this transcript
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MalaCards Disease Associations
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MalaCards Gene Search: KCNE2
Diseases sorted by gene-association score: long qt syndrome 6* (964), atrial fibrillation, familial, 4* (829), familial atrial fibrillation* (222), familial long qt syndrome* (171), long qt syndrome 1* (154), kcne2-related familial atrial fibrillation* (100), long qt syndrome (22), atrial fibrillation (13), long qt syndrome 12 (11), atrioventricular block (9), long qt syndrome 5 (9), long qt syndrome-3 (8), ventricular fibrillation, familial, 1 (8), jervell and lange-nielsen syndrome (7), long qt syndrome 2 (7), intrinsic cardiomyopathy (6), third-degree atrioventricular block (6), short qt syndrome (6), andersen syndrome (4), catecholaminergic polymorphic ventricular tachycardia (3), brugada syndrome (3)
* = Manually curated disease association
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Comparative Toxicogenomics Database (CTD)
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 Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
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Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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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.
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Protein Domain and Structure Information
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InterPro Domains: Graphical view of domain structure
IPR000369 - K_chnl_volt-dep_bsu_KCNE
IPR005425 - K_chnl_volt-dep_bsu_KCNE2
Pfam Domains:
PF02060 - Slow voltage-gated potassium channel
ModBase Predicted Comparative 3D Structure on Q9Y6J6
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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Orthologous Genes in Other Species
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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.
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Gene Ontology (GO) Annotations with Structured Vocabulary
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Molecular Function:
GO:0005242 inward rectifier potassium channel activity
GO:0005244 voltage-gated ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
GO:0005515 protein binding
GO:0015459 potassium channel regulator activity
GO:0042803 protein homodimerization activity
GO:0044325 ion channel binding
GO:1902282 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization
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
Cellular Component:
GO:0005764 lysosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
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Descriptions from all associated GenBank mRNAs
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DQ192290 - Homo sapiens cardiac voltage-gated potassium channel accessory subunit 2 (KCNE2) mRNA, partial cds.
AF302095 - Homo sapiens voltage-gated K+ channel subunit MIRP1 (KCNE2) mRNA, complete cds.
BC112087 - Homo sapiens potassium voltage-gated channel, Isk-related family, member 2, mRNA (cDNA clone MGC:138292 IMAGE:8327555), complete cds.
BC093892 - Homo sapiens potassium voltage-gated channel, Isk-related family, member 2, mRNA (cDNA clone MGC:120927 IMAGE:7939737), complete cds.
JD382916 - Sequence 363940 from Patent EP1572962.
JD040064 - Sequence 21088 from Patent EP1572962.
JD539048 - Sequence 520072 from Patent EP1572962.
JD456551 - Sequence 437575 from Patent EP1572962.
AF071002 - Homo sapiens minK-related peptide 1 mRNA, complete cds.
AB529150 - Synthetic construct DNA, clone: pF1KB4606, Homo sapiens KCNE2 gene for potassium voltage-gated channel, Isk-related family, member 2, without stop codon, in Flexi system.
KJ892888 - Synthetic construct Homo sapiens clone ccsbBroadEn_02282 KCNE2 gene, encodes complete protein.
KR712185 - Synthetic construct Homo sapiens clone CCSBHm_00036676 KCNE2 (KCNE2) mRNA, encodes complete protein.
KR712186 - Synthetic construct Homo sapiens clone CCSBHm_00036681 KCNE2 (KCNE2) mRNA, encodes complete protein.
KR712187 - Synthetic construct Homo sapiens clone CCSBHm_00036682 KCNE2 (KCNE2) mRNA, encodes complete protein.
KR712188 - Synthetic construct Homo sapiens clone CCSBHm_00036684 KCNE2 (KCNE2) mRNA, encodes complete protein.
JD333598 - Sequence 314622 from Patent EP1572962.
JD166889 - Sequence 147913 from Patent EP1572962.
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Biochemical and Signaling Pathways
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Other Names for This Gene
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Alternate Gene Symbols: A5H1P3, D3DSF8, ENST00000290310.1, ENST00000290310.2, ENST00000290310.3, KCNE2_HUMAN, NM_172201, Q52LJ5, Q9Y6J6, uc317kul.1, uc317kul.2
UCSC ID: ENST00000290310.4_5
RefSeq Accession: NM_172201.2
Protein: Q9Y6J6
(aka KCNE2_HUMAN or MIR1_HUMAN)
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GeneReviews for This Gene
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GeneReviews article(s) related to gene KCNE2:
brugada (Brugada Syndrome)
rws (Long QT Syndrome Overview)
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Gene Model Information
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for a detailed description of the fields of the table above.
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.
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US Server
