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Aliases & Descriptions for KCNE2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase, and/or 9Nature:405,311-319 and CroW21) About This Section
|
| Aliases |
|---|
| ATFB4 2, 5 | | LQT5 2 | | LQT6 2, 5 | | MGC138292 2 | | MIRP1 2, 5 | | MiRP1 1 |
| | | Descriptions |
|---|
| MinK-related peptide 1 3 | | Minimum potassium ion channel-related peptide 1 2, 3 | | Potassium channel subunit beta MiRP1 3 | | cardiac voltage-gated potassium channel accessory subunit 2 2 | human minK-related peptide 1, potassium channel subunit, MiRP1 9 | | minK-related peptide-1 2 | | potassium channel subunit, MiRP1 2 | | potassium voltage-gated channel subfamily E member 2 2 | potassium voltage-gated channel, Isk-related family, member 2 2 | | voltage-gated K+ channel subunit MIRP1 2 |
|
| | Search outside databases for aliases for KCNE2 genePrevious GC identifers: GC21P032313 GC21P034656 |
Summaries for KCNE2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for KCNE2: 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] UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6Function: 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 |
Genomic Location for KCNE2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences, Whole Chromsome Sequence According to
Nature (Cited Here with Permission):405,311-319 and CroW21) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 21q22.12 Ensembl cytogenetic band: 21q22.11 HGNC cytogenetic band: 21q22.1 Nature(405: 311-319) cytogenetic band: 21q22.12 | KCNE2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 |
| GC21P034658: |
GeneLoc |
Nature:405,311-319 |
Start:
|
34,658,193 bp from pter |
21,319,354 bp from centromere |
End:
|
34,665,310 bp from pter |
21,320,085 bp from centromere |
Size:
|
7,118 bases |
732 bases |
Orientation:
|
plus strand |
plus strand |
RefSeq DNA sequence:- NC_000021.7 NT_011512.10
| Whole chromosome sequencing: |
| cDNA sequence: |
AF071002 | | genomic clones: |
pQ12C8 |
Proteins for KCNE2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6 (See
protein sequence)Recommended Name: Potassium voltage-gated channel subfamily E member 2 Size: 123 amino acids; 14472 Da
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
Secondary accessions: A5H1P3 Q52LJ5Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_751951.1
ENSEMBL proteins: ENSP00000290310
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
4 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for KCNE2: Assays for KCNE2: | Protein
Domains/ Families for KCNE2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9Y6J6
ProtoNet protein and cluster: Q9Y6J6 2 Blocks protein families: IPB000369 KCNE voltage-gated K+ channel beta subunit family signature IPB005425 KCNE voltage-gated K+ channel beta-2 subunit signature
UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6Similarity: Belongs to the potassium channel KCNE family | Gene Function for KCNE2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_172201
Applied Biosystems Silencer® siRNAs for KCNE2
Sigma-Aldrich siRNA and siRNA Panels for KCNE2  Sigma-Aldrich shRNA Panels and shRNA for KCNE2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_172201                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_172201                                  untagged cDNA clone in CMV expression vector: NM_172201 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_172201
UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6Function: 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 currentGenatlas biochemistry entry for KCNE2:potassium voltage channel,Isk-related subfamily member,expressed in cardiac and skeletal muscle,associating with KCNH2 (HERG) to generate a rapid delayed-rectifier channel (differing from the channel exclusively made of KCNH2),central to the control of the heart rate and rhythm2 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Kcne2):
4 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005244 | voltage-gated ion channel activity |
IEA | -- | | GO:0005249 | voltage-gated potassium channel activity |
TAS | 10219239 | | GO:0015459 | potassium channel regulator activity |
IEA | -- | | GO:0030955 | potassium ion binding |
IEA | -- | About this table | Pathways & Interactions for KCNE2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for KCNE2 
5/51 Interacting proteins for KCNE2 (ENSP000002903103) via UniProtKB, MINT, and/or STRING (see all 51
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for KCNE2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Compounds for KCNE2 available from Tocris Bioscience About this table
2 Novoseek chemical compound relationships for KCNE2 gene
About this table
3 PharmGKB drug compound relationships for KCNE2 geneAbout this table
|
Transcripts for KCNE2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_172201
Sigma-Aldrich siRNA and siRNA Panels for KCNE2  Sigma-Aldrich shRNA Panels and shRNA for KCNE2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_172201 REFSEQ mRNAs for KCNE2 gene: NM_172201.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_172201               OriGene GFP tagged cDNA clone in CMV expression vector: NM_172201                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_172201                                  untagged cDNA clone in CMV expression vector: NM_172201  Additional cDNA sequence: AF302095.1 BC093892.1 BC112087.1 DQ192290.1 2 DOTS entries: DT.440623 DT.100747165 24/26 AceView cDNA sequences (see all 26
):BM783832 CB104833 NM_172201 CD619900 CD619897 AF071002 CD619898 AF302095 BG221966 CD619896 CO247601 CO248577 CO249094 CO246762 CO245778 CO249699 CO246672 CO249586 CO249201 CO245917 CO245676 CO250230 CO247449 CO248680
highest scoring ESTs for KCNE2:AF302095 BG208163 BG221966 AA633404 AF071002 AI246239 AI339609 AI654552 AI962650 BC093892 Unigene Cluster for KCNE2: Potassium voltage-gated channel, Isk-related family, member 2 Hs.551521 [show with all ESTs]Unigene Representative Sequence: AF302095
GeneLoc Exon Structure
1 Ensembl transcript including schematic representation: ENST00000290310
|
Expression for KCNE2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| KCNE2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for KCNE2
1 / 2 / 3 3 probe-sets matching KCNE2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.551521 UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6Tissue 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 |
Orthologs for KCNE2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for KCNE2 gene from 5/6 species (see all 6
)
| Organism |
Gene |
Locus |
Description |
Human Similarity |
NCBI accessions |
dog (Canis familiaris) |
KCNE21 |
-- |
potassium voltage-gated channel, Isk-related family, more |
89.7(n) 91.06(a) |
403471 XM_544867.2 XP_544867.2 |
chimpanzee (Pan troglodytes) |
KCNE21 |
-- |
potassium voltage-gated channel, Isk-related family, more |
99.19(n) 99.19(a) |
746889 XM_001167267.1 XP_001167267.1 |
cow (Bos taurus) |
KCNE21 |
-- |
potassium voltage-gated channel, Isk-related family, more |
85.37(n) 86.18(a) |
768025 NM_001077084.1 NP_001070552.1 |
rat (Rattus norvegicus) |
Kcne21 |
-- |
potassium voltage-gated channel, Isk-related subfamily, more |
82.11(n) 82.11(a) |
171138 NM_133603.2 NP_598287.1 |
mouse (Mus musculus) |
Kcne21, 5 |
165
|
potassium voltage-gated channel, Isk-related subfamily, more1, 5 |
82.66(n)1 84.55(a)1 |
2461331 NM_134110.21 NP_598871.11 AK0086195 AW0482735 (see all 8) |
About this table Species with no ortholog for KCNE2
ENSEMBL Gene Tree for KCNE2 | Paralogs for KCNE2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for KCNE2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for KCNE2 (up to first 250kb)
|
Disorders & Mutations for KCNE2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 603796 UniProtKB/Swiss-Prot: KCNE2_HUMAN, Q9Y6J6
Defects in KCNE2 are the cause of long QT syndrome type 6 (LQT6) [MIM:603796]. 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 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, progressive deterioration of atrial electromechanical function and ineffective pumping of blood into the ventricles. It can be associated with palpitations, syncope, thromboembolic stroke, and congestive heart failure7 Novoseek disease relationships for KCNE2 gene
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| long qt syndrome |
93.45 |
14 |
10219239 (1), 11289718 (1), 14760488 (1), 18603586 (1) (see all 11) |
| romano-ward syndrome |
87.66 |
3 |
10898405 (1), 18752142 (1), 10973849 (1) |
| atrial fibrillation, familial |
85.36 |
1 |
15368194 (1) |
| death sudden |
74.18 |
2 |
11289718 (1), 14642002 (1) |
| arrhythmia |
73.54 |
16 |
18006462 (2), 18221016 (1), 11468227 (1), 19219384 (1) (see all 9) |
| ventricular fibrillation |
54.14 |
1 |
10219239 (1) |
| heart diseases |
35.32 |
1 |
14642002 (1) |
About this table
1 PharmGKB disease relationship for KCNE2 geneAbout this table
GeneTests: KCNE2 Romano-Ward Syndrome Human Gene Mutation Database: KCNE2 Genetic Association Database: KCNE2 Human Genome Epidemiology Navigator: KCNE2 (22 documents)
|
Medical News for KCNE2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for KCNE2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/99 PubMed articles for KCNE2 gene (see all 99
):- MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. (PubMed id 10219239)1, 2, 3, 4, 7 Abbott G.W.... Goldstein S.A.N. (1999)
- KCNE2 confers background current characteristics to the cardiac KCNQ1 potassium channel. (PubMed id 11101505)3, 4, 7 Tinel N.... Barhanin J. (2000)
- Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics. (PubMed id 12185453)1, 3, 4 Isbrandt D....Schulze-Bahr E. (2002)
- Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. (PubMed id 15368194)1, 3, 4 Yang Y....Chen Y. (2004)
- Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. (PubMed id 14760488)1, 3, 6 Paulussen A.D....Aerssens J. (2004)
- Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. (PubMed id 14661677)1, 3, 6 Ackerman M.J....Curran M.E. (2003)
- Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. (PubMed id 11874988)1, 3, 4 Abbott G.W. and Goldstein S.A.N. (2002)
- Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. (PubMed id 15746444)1, 3, 6 Pfeufer A....Kaab S. (2005)
- Correlation of genetic etiology with response to beta-adrenergic blockade among symptomatic patients with familial long-QT syndrome. (PubMed id 11289718)1, 3, 6 Itoh T....Tanaka T. (2001)
- Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. (PubMed id 15840476)3, 6 Tester D.J....Ackerman M.J. (2005)
|
Search for KCNE2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KCNE2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing KCNE2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNE2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| LQTSdb | http://Www.ssi.dk/en/forskning/lqtsdb/kcne2.htm | | GeneReviews | http://www.genetests.org/query?gene=KCNE2 |
|
| | | About This Section
| --
| Services for KCNE2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for KCNE2:

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|
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| | | | Tocris compounds for KCNE2 |
|
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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