KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2) - Rat Genome Database

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Gene: KCNE2 (potassium voltage-gated channel subfamily E regulatory subunit 2) Homo sapiens
Analyze
Symbol: KCNE2
Name: potassium voltage-gated channel subfamily E regulatory subunit 2
RGD ID: 731917
HGNC Page HGNC
Description: Enables potassium channel regulator activity; transmembrane transporter binding activity; and voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization. Contributes to delayed rectifier potassium channel activity and inward rectifier potassium channel activity. Involved in several processes, including ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ion transmembrane transport. Located in cell surface and plasma membrane. Colocalizes with voltage-gated potassium channel complex. Implicated in atrial fibrillation; familial atrial fibrillation; long QT syndrome; and long QT syndrome 6.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ATFB4; cardiac voltage-gated potassium channel accessory subunit 2; LQT5; LQT6; MGC138292; minimum potassium ion channel-related peptide 1; minK-related peptide 1; minK-related peptide-1; MIRP1; potassium channel subunit beta MiRP1; potassium channel subunit, MiRP1; potassium channel, voltage gated subfamily E regulatory beta subunit 2; potassium voltage-gated channel subfamily E member 2; potassium voltage-gated channel, Isk-related family, member 2; voltage-gated K+ channel subunit MIRP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2134,364,006 - 34,371,381 (+)EnsemblGRCh38hg38GRCh38
GRCh382134,364,006 - 34,371,381 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372135,736,305 - 35,743,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,658,193 - 34,665,310 (+)NCBINCBI36hg18NCBI36
Build 342134,658,192 - 34,665,310NCBI
Celera2120,935,893 - 20,943,010 (+)NCBI
Cytogenetic Map21q22.11NCBI
HuRef2121,214,794 - 21,221,877 (+)NCBIHuRef
CHM1_12135,298,575 - 35,305,689 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway  (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
carvedilol pharmacodynamics pathway  (EXP)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

References

Additional References at PubMed
PMID:10830953   PMID:11034315   PMID:11101505   PMID:11278781   PMID:11289718   PMID:11313306   PMID:11329013   PMID:11874988   PMID:12185453   PMID:12477932   PMID:12856183   PMID:12923204  
PMID:14661677   PMID:14760488   PMID:15051636   PMID:15066947   PMID:15176425   PMID:15489334   PMID:15746444   PMID:16303284   PMID:16414944   PMID:16487223   PMID:16487842   PMID:16631607  
PMID:16780588   PMID:16818214   PMID:17210839   PMID:17255364   PMID:17275752   PMID:17310097   PMID:17534376   PMID:17676362   PMID:17895974   PMID:17905336   PMID:18221016   PMID:18501111  
PMID:18676988   PMID:18752142   PMID:19077539   PMID:19149796   PMID:19198609   PMID:19219384   PMID:19322600   PMID:19372218   PMID:19716085   PMID:19913121   PMID:20042375   PMID:20108749  
PMID:20298200   PMID:20301308   PMID:20386770   PMID:20400777   PMID:20533308   PMID:20625512   PMID:20628086   PMID:20738937   PMID:20881960   PMID:20920651   PMID:20971364   PMID:21063070  
PMID:21063774   PMID:21087668   PMID:21873635   PMID:21946350   PMID:22166675   PMID:22180649   PMID:23192594   PMID:23483772   PMID:23504710   PMID:23714088   PMID:23890619   PMID:24262325  
PMID:24460807   PMID:24631769   PMID:24681347   PMID:24796621   PMID:24827085   PMID:24937480   PMID:26123744   PMID:26956495   PMID:28280005   PMID:28794082   PMID:31044566   PMID:31270966  
PMID:31679457  


Genomics

Comparative Map Data
KCNE2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2134,364,006 - 34,371,381 (+)EnsemblGRCh38hg38GRCh38
GRCh382134,364,006 - 34,371,381 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372135,736,305 - 35,743,680 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362134,658,193 - 34,665,310 (+)NCBINCBI36hg18NCBI36
Build 342134,658,192 - 34,665,310NCBI
Celera2120,935,893 - 20,943,010 (+)NCBI
Cytogenetic Map21q22.11NCBI
HuRef2121,214,794 - 21,221,877 (+)NCBIHuRef
CHM1_12135,298,575 - 35,305,689 (+)NCBICHM1_1
Kcne2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391692,089,277 - 92,095,021 (+)NCBIGRCm39mm39
GRCm39 Ensembl1692,089,277 - 92,095,017 (+)Ensembl
GRCm381692,292,389 - 92,298,133 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1692,292,389 - 92,298,129 (+)EnsemblGRCm38mm10GRCm38
MGSCv371692,292,634 - 92,298,374 (+)NCBIGRCm37mm9NCBIm37
MGSCv361692,181,248 - 92,186,988 (+)NCBImm8
Celera1693,375,548 - 93,381,246 (+)NCBICelera
Cytogenetic Map16C4NCBI
Kcne2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21131,517,176 - 31,530,026 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1131,295,614 - 31,530,043 (+)Ensembl
Rnor_6.01132,434,786 - 32,447,264 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1132,440,237 - 32,447,259 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01136,038,539 - 36,051,121 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41132,277,711 - 32,290,828 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11132,339,411 - 32,347,070 (+)NCBI
Celera1131,171,793 - 31,183,884 (+)NCBICelera
Cytogenetic Map11q11NCBI
Kcne2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540733,735,148 - 33,735,513 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540733,734,969 - 33,736,609 (+)NCBIChiLan1.0ChiLan1.0
KCNE2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12134,000,211 - 34,063,718 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2134,107,443 - 34,107,814 (+)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl2134,107,443 - 34,107,814 (+)NCBIpanpan1.1panPan2
Mhudiblu_PPA_v02120,548,631 - 20,739,999 (+)NCBIMhudiblu_PPA_v0panPan3
KCNE2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13129,777,154 - 29,777,839 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3129,581,658 - 29,777,525 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3128,876,722 - 28,877,407 (+)NCBI
ROS_Cfam_1.03129,070,854 - 29,078,555 (+)NCBI
UMICH_Zoey_3.13128,944,202 - 28,944,887 (+)NCBI
UNSW_CanFamBas_1.03128,958,946 - 28,959,631 (+)NCBI
UU_Cfam_GSD_1.03129,458,093 - 29,458,778 (+)NCBI
Kcne2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440497129,395,302 - 29,399,661 (+)NCBI
SpeTri2.0NW_0049365008,067,009 - 8,072,383 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNE2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.113197,979,749 - 197,980,974 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213207,798,714 - 207,809,529 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNE2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1257,833,459 - 57,841,052 (-)NCBI
ChlSab1.1 Ensembl257,833,629 - 57,834,000 (-)Ensembl
Vero_WHO_p1.0NW_023666071335,337 - 336,729 (-)NCBI
Kcne2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474522,552,809 - 22,553,321 (+)NCBI

Position Markers
KCNE2_1321  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,742,783 - 35,743,505UniSTSGRCh37
Build 362134,664,653 - 34,665,375RGDNCBI36
Celera2120,942,353 - 20,943,075RGD
HuRef2121,221,220 - 21,221,942UniSTS
SHGC-87567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372135,739,316 - 35,739,453UniSTSGRCh37
Build 362134,661,186 - 34,661,323RGDNCBI36
Celera2120,938,886 - 20,939,023RGD
Cytogenetic Map21q22.12UniSTS
HuRef2121,217,786 - 21,217,923UniSTS
TNG Radiation Hybrid Map2112234.0UniSTS
GeneMap99-GB4 RH Map21156.92UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
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Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:145
Count of miRNA genes:119
Interacting mature miRNAs:121
Transcripts:ENST00000290310
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1
Medium 287 11 4 3 21 2 1 4
Low 1360 1447 1190 275 280 257 2646 899 2939 293 1085 1138 22 651 1810 2
Below cutoff 723 1290 509 327 1172 190 1605 1202 750 113 308 425 141 527 929 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000290310   ⟹   ENSP00000290310
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2134,364,006 - 34,371,381 (+)Ensembl
RefSeq Acc Id: NM_172201   ⟹   NP_751951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,364,006 - 34,371,381 (+)NCBI
GRCh372135,736,323 - 35,743,440 (+)ENTREZGENE
Build 362134,658,193 - 34,665,310 (+)NCBI Archive
HuRef2121,214,794 - 21,221,877 (+)ENTREZGENE
CHM1_12135,298,575 - 35,305,689 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_751951   ⟸   NM_172201
- UniProtKB: Q9Y6J6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000290310   ⟸   ENST00000290310

Promoters
RGD ID:13602716
Promoter ID:EPDNEW_H27542
Type:multiple initiation site
Name:KCNE2_1
Description:potassium voltage-gated channel subfamily E regulatory subunit2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382134,363,990 - 34,364,050EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_172201.1(KCNE2):c.190A>G (p.Ile64Val) single nucleotide variant Long QT syndrome 6 [RCV000555620] Chr21:34370668 [GRCh38]
Chr21:35742967 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.25C>G (p.Gln9Glu) single nucleotide variant Atrial fibrillation, familial, 4 [RCV001139400]|Cardiovascular phenotype [RCV000245955]|Long QT syndrome 6 [RCV000990346]|Long QT syndrome 6, acquired, susceptibility to [RCV000006424]|none provided [RCV001286404]|not provided [RCV000058370]|not specified [RCV000170567] Chr21:34370503 [GRCh38]
Chr21:35742802 [GRCh37]
Chr21:21q22.11
risk factor|benign|likely benign|uncertain significance|conflicting data from submitters|not provided
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) single nucleotide variant Cardiac arrhythmia [RCV000148518]|Congenital long QT syndrome [RCV000058360]|KCNE2-Related Disorders [RCV000407848]|Long QT syndrome 6 [RCV000006425]|not provided [RCV000212497] Chr21:34370639 [GRCh38]
Chr21:35742938 [GRCh37]
Chr21:21q22.11
pathogenic|likely pathogenic|risk factor|benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) single nucleotide variant Atrial fibrillation, familial, 4 [RCV001139401]|Cardiac arrhythmia [RCV000148521]|Cardiovascular phenotype [RCV000241603]|Long QT syndrome 6 [RCV000006426]|not provided [RCV000058362]|not specified [RCV000212498] Chr21:34370648 [GRCh38]
Chr21:35742947 [GRCh37]
Chr21:21q22.11
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) single nucleotide variant Atrial fibrillation [RCV000058377]|Atrial fibrillation, familial, 4 [RCV000006427]|Atrial fibrillation, familial, 4 [RCV000490451]|Long QT syndrome 6 [RCV001080271]|Primary familial hypertrophic cardiomyopathy [RCV000157256]|not provided [RCV000756281] Chr21:34370557 [GRCh38]
Chr21:35742856 [GRCh37]
Chr21:21q22.11
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_172201.1(KCNE2):c.178T>C (p.Phe60Leu) single nucleotide variant Congenital long QT syndrome [RCV000058363]|Long qt syndrome 3/6, digenic [RCV000006428] Chr21:34370656 [GRCh38]
Chr21:35742955 [GRCh37]
Chr21:21q22.11
pathogenic|not provided
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000050445] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 copy number loss See cases [RCV000052807] Chr21:35527952..44298520 [GRCh37]
Chr21:34449822..43171589 [NCBI36]
Chr21:21q22.1-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053042] Chr21:7749532..46623792 [GRCh38]
Chr21:14595524..48043704 [GRCh37]
Chr21:13517395..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053043] Chr21:7749532..46623792 [GRCh38]
Chr21:14629063..48043704 [GRCh37]
Chr21:13550934..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 copy number gain See cases [RCV000053045] Chr21:7749532..46670546 [GRCh38]
Chr21:15499647..48090458 [GRCh37]
Chr21:14421518..46914886 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053065] Chr21:7749532..46661140 [GRCh38]
Chr21:15499647..48081052 [GRCh37]
Chr21:14421518..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 copy number gain See cases [RCV000053067] Chr21:7749532..46661140 [GRCh38]
Chr21:15499847..48081052 [GRCh37]
Chr21:14421718..46905480 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053068] Chr21:7749532..46670405 [GRCh38]
Chr21:20655360..48090317 [GRCh37]
Chr21:19577231..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000053069] Chr21:7749532..46670405 [GRCh38]
Chr21:34423268..48090317 [GRCh37]
Chr21:33345138..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 copy number gain See cases [RCV000053039] Chr21:7749532..46623792 [GRCh38]
Chr21:14524963..48043704 [GRCh37]
Chr21:13446834..46868132 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.1(chr21:35292816-36834601)x3 copy number gain See cases [RCV000053070] Chr21:35292816..36834601 [GRCh37]
Chr21:34214686..35756471 [NCBI36]
Chr21:21q22.1
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 copy number gain See cases [RCV000053040] Chr21:7749532..46653090 [GRCh38]
Chr21:14539679..48073002 [GRCh37]
Chr21:13461550..46897430 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
NM_172201.1(KCNE2):c.166A>G (p.Met56Val) single nucleotide variant not provided [RCV000058361] Chr21:34370644 [GRCh38]
Chr21:35742943 [GRCh37]
Chr21:21q22.11
likely benign|not provided
NM_172201.1(KCNE2):c.193G>A (p.Val65Met) single nucleotide variant Congenital long QT syndrome [RCV000058364]|Long QT syndrome 6 [RCV000464363] Chr21:34370671 [GRCh38]
Chr21:35742970 [GRCh37]
Chr21:21q22.11
pathogenic|uncertain significance|not provided
NM_172201.1(KCNE2):c.193G>C (p.Val65Leu) single nucleotide variant Congenital long QT syndrome [RCV000058365]|Long QT syndrome 6 [RCV000228047] Chr21:34370671 [GRCh38]
Chr21:35742970 [GRCh37]
Chr21:21q22.11
pathogenic|uncertain significance|not provided
NM_172201.1(KCNE2):c.197C>T (p.Ala66Val) single nucleotide variant none provided [RCV001286881]|not provided [RCV000058366] Chr21:34370675 [GRCh38]
Chr21:35742974 [GRCh37]
Chr21:21q22.11
benign|uncertain significance|not provided
NM_172201.1(KCNE2):c.229C>T (p.Arg77Trp) single nucleotide variant Congenital long QT syndrome [RCV000058367]|Long QT syndrome 6 [RCV001246221]|Long QT syndrome [RCV000148522]|not provided [RCV000170957]|not specified [RCV000781484] Chr21:34370707 [GRCh38]
Chr21:35743006 [GRCh37]
Chr21:21q22.11
pathogenic|uncertain significance|not provided
NM_172201.1(KCNE2):c.22A>G (p.Thr8Ala) single nucleotide variant Cardiovascular phenotype [RCV000248455]|Long QT syndrome 6 [RCV001086272]|Long QT syndrome [RCV000845300]|Long QT syndrome, drug-associated [RCV000171812]|none provided [RCV001283589]|not provided [RCV000058368]|not specified [RCV000170566] Chr21:34370500 [GRCh38]
Chr21:35742799 [GRCh37]
Chr21:21q22.11
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_172201.1(KCNE2):c.230G>A (p.Arg77Gln) single nucleotide variant Congenital long QT syndrome [RCV000058369]|Long QT syndrome [RCV000148523] Chr21:34370708 [GRCh38]
Chr21:35743007 [GRCh37]
Chr21:21q22.11
pathogenic|uncertain significance|not provided
NM_172201.1(KCNE2):c.269A>G (p.Glu90Gly) single nucleotide variant Atrial fibrillation [RCV000058371] Chr21:34370747 [GRCh38]
Chr21:35743046 [GRCh37]
Chr21:21q22.11
pathogenic|not provided
NM_172201.1(KCNE2):c.281A>G (p.Glu94Gly) single nucleotide variant Congenital long QT syndrome [RCV000058372] Chr21:34370759 [GRCh38]
Chr21:35743058 [GRCh37]
Chr21:21q22.11
pathogenic|not provided
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) single nucleotide variant Congenital long QT syndrome [RCV000058373]|Long QT syndrome 6 [RCV000576170]|Long QT syndrome [RCV000171565]|Long QT syndrome [RCV000999581]|not specified [RCV000218738] Chr21:34370507 [GRCh38]
Chr21:35742806 [GRCh37]
Chr21:34664676 [NCBI36]
Chr21:21q22.11
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_172201.1(KCNE2):c.347C>T (p.Ala116Val) single nucleotide variant Acquired long QT syndrome [RCV000058374]|not provided [RCV000222131] Chr21:34370825 [GRCh38]
Chr21:35743124 [GRCh37]
Chr21:21q22.11
pathogenic|likely pathogenic|not provided
NM_172201.1(KCNE2):c.40G>A (p.Val14Ile) single nucleotide variant Long QT syndrome 6 [RCV000990347]|Long QT syndrome [RCV000148519]|not provided [RCV000058375]|not specified [RCV000185520] Chr21:34370518 [GRCh38]
Chr21:35742817 [GRCh37]
Chr21:21q22.11
likely benign|uncertain significance|not provided
NM_172201.1(KCNE2):c.59T>A (p.Ile20Asn) single nucleotide variant Congenital long QT syndrome [RCV000058376] Chr21:34370537 [GRCh38]
Chr21:35742836 [GRCh37]
Chr21:21q22.11
pathogenic|not provided
NM_172201.1(KCNE2):c.80G>A (p.Arg27His) single nucleotide variant Congenital long QT syndrome [RCV000058378]|Long QT syndrome 6 [RCV001088249]|Long QT syndrome [RCV000148520]|not provided [RCV000786140] Chr21:34370558 [GRCh38]
Chr21:35742857 [GRCh37]
Chr21:21q22.11
pathogenic|likely benign|uncertain significance|not provided
NM_172201.1(KCNE2):c.-30T>C single nucleotide variant not specified [RCV000170950] Chr21:34364134 [GRCh38]
Chr21:35736433 [GRCh37]
Chr21:21q22.11
benign
NM_172201.1(KCNE2):c.354G>A (p.Gly118=) single nucleotide variant Atrial fibrillation, familial, 4 [RCV001142019]|Cardiovascular phenotype [RCV000254504]|Long QT syndrome 6 [RCV000648403]|not provided [RCV000586241]|not specified [RCV000170951] Chr21:34370832 [GRCh38]
Chr21:35743131 [GRCh37]
Chr21:21q22.11
benign|likely benign|uncertain significance
NM_172201.1(KCNE2):c.-13+5G>A single nucleotide variant Atrial fibrillation, familial, 4 [RCV000288510]|Congenital long QT syndrome [RCV000331921]|Long QT syndrome 6 [RCV000381892]|not provided [RCV000505711] Chr21:34364156 [GRCh38]
Chr21:35736455 [GRCh37]
Chr21:21q22.11
likely pathogenic|uncertain significance
NM_172201.1(KCNE2):c.47G>A (p.Arg16Gln) single nucleotide variant not provided [RCV000170954] Chr21:34370525 [GRCh38]
Chr21:35742824 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.362T>A (p.Met121Lys) single nucleotide variant not provided [RCV000170958] Chr21:34370840 [GRCh38]
Chr21:35743139 [GRCh37]
Chr21:21q22.11
likely pathogenic
NM_172201.1(KCNE2):c.371G>C (p.Ter124Ser) single nucleotide variant not provided [RCV000170959] Chr21:34370849 [GRCh38]
Chr21:35743148 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.369_370del (p.Ter124IleextTer?) deletion Cardiovascular phenotype [RCV000618615]|KCNE2-Related Disorders [RCV000778640]|Long QT syndrome 6 [RCV000695566]|not provided [RCV000170960] Chr21:34370847..34370848 [GRCh38]
Chr21:35743146..35743147 [GRCh37]
Chr21:21q22.11
pathogenic|uncertain significance
NM_172201.1(KCNE2):c.205G>A (p.Val69Met) single nucleotide variant not provided [RCV000170961] Chr21:34370683 [GRCh38]
Chr21:35742982 [GRCh37]
Chr21:21q22.11
likely pathogenic
NM_172201.1(KCNE2):c.261C>T (p.Tyr87=) single nucleotide variant Long QT syndrome 6 [RCV001505759]|not specified [RCV000126407] Chr21:34370739 [GRCh38]
Chr21:35743038 [GRCh37]
Chr21:21q22.11
benign|likely benign
NM_172201.1(KCNE2):c.209G>A (p.Ser70Asn) single nucleotide variant Long QT syndrome 6 [RCV001049236]|not provided [RCV000171348] Chr21:34370687 [GRCh38]
Chr21:35742986 [GRCh37]
Chr21:21q22.11
likely pathogenic|uncertain significance
NM_172201.1(KCNE2):c.357C>A (p.Phe119Leu) single nucleotide variant not provided [RCV000171660] Chr21:34370835 [GRCh38]
Chr21:35743134 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 copy number gain See cases [RCV000133676] Chr21:7749532..42971047 [GRCh38]
Chr21:15499847..44391157 [GRCh37]
Chr21:14421718..43264226 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 copy number gain See cases [RCV000134727] Chr21:7749532..46653084 [GRCh38]
Chr21:15485038..48072996 [GRCh37]
Chr21:14406909..46897424 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 copy number gain See cases [RCV000134509] Chr21:7749532..46649831 [GRCh38]
Chr21:14577835..48069743 [GRCh37]
Chr21:13499706..46894171 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134119] Chr21:7749532..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000135310] Chr21:7749532..46670346 [GRCh38]
Chr21:34111831..48090258 [GRCh37]
Chr21:33033702..46914686 [NCBI36]
Chr21:21q22.11-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 copy number gain See cases [RCV000134836] Chr21:7749532..46664250 [GRCh38]
Chr21:15485038..48084162 [GRCh37]
Chr21:14406909..46908590 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 copy number gain See cases [RCV000134842] Chr21:7749532..46670440 [GRCh38]
Chr21:15513244..48090352 [GRCh37]
Chr21:14435115..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 copy number gain See cases [RCV000135448] Chr21:7749532..46660999 [GRCh38]
Chr21:15499847..48080911 [GRCh37]
Chr21:14421718..46905339 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:34997018-36118212)x3 copy number gain See cases [RCV000136827] Chr21:34997018..36118212 [GRCh37]
Chr21:33918888..35040082 [NCBI36]
Chr21:21q22.11-22.12
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137337] Chr21:7749532..46671060 [GRCh38]
Chr21:10697897..48090972 [GRCh37]
Chr21:1..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000137255] Chr21:7749532..46671060 [GRCh38]
Chr21:35319225..48090972 [GRCh37]
Chr21:34241095..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1 copy number loss See cases [RCV000138095] Chr21:7749532..37653653 [GRCh38]
Chr21:15451032..39025955 [GRCh37]
Chr21:14372903..37947825 [NCBI36]
Chr21:21p11.2-q22.13
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138216] Chr21:7749532..46671060 [GRCh38]
Chr21:10944001..48090972 [GRCh37]
Chr21:9965872..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 copy number gain See cases [RCV000138436] Chr21:7749532..46671060 [GRCh38]
Chr21:15451032..48090972 [GRCh37]
Chr21:14372903..46915400 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic|conflicting data from submitters
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 copy number gain See cases [RCV000140103] Chr21:7749532..46670346 [GRCh38]
Chr21:14577894..48090258 [GRCh37]
Chr21:13499765..46914686 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 copy number gain See cases [RCV000141346] Chr21:7749532..46698247 [GRCh38]
Chr21:14577835..48118159 [GRCh37]
Chr21:13499706..46942587 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000141827] Chr21:7749532..46677460 [GRCh38]
Chr21:28285299..48097372 [GRCh37]
Chr21:27207170..46921800 [NCBI36]
Chr21:21q21.3-22.3
uncertain significance
GRCh37/hg19 21q21.3-22.12(chr21:29880468-36062331)x1 copy number loss See cases [RCV000141575] Chr21:29880468..36062331 [GRCh37]
Chr21:28802339..34984201 [NCBI36]
Chr21:21q21.3-22.12
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 copy number loss See cases [RCV000142427] Chr21:7817158..46670440 [GRCh38]
Chr21:15485038..48090352 [GRCh37]
Chr21:14406909..46914780 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) copy number gain See cases [RCV000143160] Chr21:7749532..46677460 [GRCh38]
Chr21:14386013..48097372 [GRCh37]
Chr21:13307884..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 copy number gain See cases [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..46921800 [NCBI36]
Chr21:21q11.2-22.3
pathogenic
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 copy number gain See cases [RCV000148131] Chr21:7749532..46670405 [GRCh38]
Chr21:15499847..48090317 [GRCh37]
Chr21:14421718..46914745 [NCBI36]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35733290-35904053)x3 copy number gain See cases [RCV000258810] Chr21:35733290..35904053 [GRCh37]
Chr21:21q22.11-22.12
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 copy number loss See cases [RCV000239948] Chr21:15538655..48080926 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 copy number gain See cases [RCV000240397] Chr21:15410701..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_172201.1(KCNE2):c.-12-16A>G single nucleotide variant not specified [RCV000250288] Chr21:34370451 [GRCh38]
Chr21:35742750 [GRCh37]
Chr21:21q22.11
benign
NM_172201.1(KCNE2):c.-80C>T single nucleotide variant Atrial fibrillation, familial, 4 [RCV000261374]|Congenital long QT syndrome [RCV000360795]|Long QT syndrome 6 [RCV000305803] Chr21:34364084 [GRCh38]
Chr21:35736383 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.-85G>A single nucleotide variant Atrial fibrillation, familial, 4 [RCV000309143]|Congenital long QT syndrome [RCV000359280]|Long QT syndrome 6 [RCV000402485] Chr21:34364079 [GRCh38]
Chr21:35736378 [GRCh37]
Chr21:21q22.11
likely benign|uncertain significance
NM_172201.1(KCNE2):c.-121C>T single nucleotide variant Congenital long QT syndrome [RCV000289323]|Familial atrial fibrillation [RCV000344421]|Long QT syndrome [RCV000391596] Chr21:34364043 [GRCh38]
Chr21:35736342 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.-52G>A single nucleotide variant Atrial fibrillation, familial, 4 [RCV000296811]|Congenital long QT syndrome [RCV000386434]|Long QT syndrome 6 [RCV000331809] Chr21:34364112 [GRCh38]
Chr21:35736411 [GRCh37]
Chr21:21q22.11
benign|likely benign|uncertain significance
NM_172201.1(KCNE2):c.-79G>A single nucleotide variant Atrial fibrillation, familial, 4 [RCV000262658]|Congenital long QT syndrome [RCV000357314]|Long QT syndrome 6 [RCV000316511] Chr21:34364085 [GRCh38]
Chr21:35736384 [GRCh37]
Chr21:21q22.11
benign|likely benign
NM_172201.1(KCNE2):c.153G>T (p.Leu51=) single nucleotide variant Atrial fibrillation, familial, 4 [RCV000407861]|Congenital long QT syndrome [RCV000348116]|Long QT syndrome 6 [RCV000284906] Chr21:34370631 [GRCh38]
Chr21:35742930 [GRCh37]
Chr21:21q22.11
conflicting interpretations of pathogenicity|uncertain significance
NM_172201.1(KCNE2):c.*240G>C single nucleotide variant Atrial fibrillation, familial, 4 [RCV000355780]|Congenital long QT syndrome [RCV000301209]|Long QT syndrome 6 [RCV000402537] Chr21:34371090 [GRCh38]
Chr21:35743389 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.*62G>A single nucleotide variant Atrial fibrillation, familial, 4 [RCV000339806]|Congenital long QT syndrome [RCV000304682]|Long QT syndrome 6 [RCV000354782] Chr21:34370912 [GRCh38]
Chr21:35743211 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.25C>T (p.Gln9Ter) single nucleotide variant Cardiovascular phenotype [RCV000621147] Chr21:34370503 [GRCh38]
Chr21:35742802 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.339C>T (p.Asn113=) single nucleotide variant Long QT syndrome 6 [RCV000532040] Chr21:34370817 [GRCh38]
Chr21:35743116 [GRCh37]
Chr21:21q22.11
likely benign
NC_000021.8:g.(?_35736455)_(35821952_?)dup duplication Long QT syndrome [RCV000528150] Chr21:35736455..35821952 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006457-43598570)x3 copy number gain See cases [RCV000446716] Chr21:15006457..43598570 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_172201.1(KCNE2):c.222C>T (p.Ser74=) single nucleotide variant Long QT syndrome 6 [RCV001410835]|not specified [RCV000431657] Chr21:34370700 [GRCh38]
Chr21:35742999 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.317C>T (p.Ser106Leu) single nucleotide variant Cardiovascular phenotype [RCV000620110]|Long QT syndrome 6 [RCV001088045]|not provided [RCV000439315] Chr21:34370795 [GRCh38]
Chr21:35743094 [GRCh37]
Chr21:21q22.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 21q21.3-22.13(chr21:29812033-39282854)x3 copy number gain See cases [RCV000448874] Chr21:29812033..39282854 [GRCh37]
Chr21:21q21.3-22.13
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 copy number gain See cases [RCV000447884] Chr21:14771770..48080867 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 copy number gain See cases [RCV000448199] Chr21:15006457..44827632 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 copy number gain See cases [RCV000447729] Chr21:15285841..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain See cases [RCV000447749] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35905168)x3 copy number gain not provided [RCV000509264] Chr21:35734654..35905168 [GRCh37]
Chr21:21q22.11-22.12
not provided
GRCh37/hg19 21q22.11-22.12(chr21:35734654-35908414)x3 copy number gain not provided [RCV000509332] Chr21:35734654..35908414 [GRCh37]
Chr21:21q22.11-22.12
not provided
NM_172201.1(KCNE2):c.285G>T (p.Lys95Asn) single nucleotide variant Primary dilated cardiomyopathy [RCV000497782] Chr21:34370763 [GRCh38]
Chr21:35743062 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.1(KCNE2):c.97G>A (p.Glu33Lys) single nucleotide variant not provided [RCV000493451] Chr21:34370575 [GRCh38]
Chr21:35742874 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) copy number gain See cases [RCV000511589] Chr21:15006458..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_172201.1(KCNE2):c.252C>T (p.Tyr84=) single nucleotide variant Cardiovascular phenotype [RCV000619029]|Long QT syndrome 6 [RCV001464842] Chr21:34370730 [GRCh38]
Chr21:35743029 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.60T>C (p.Ile20=) single nucleotide variant Long QT syndrome 6 [RCV001395446]|not specified [RCV000601476] Chr21:34370538 [GRCh38]
Chr21:35742837 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.39C>T (p.Asp13=) single nucleotide variant Cardiovascular phenotype [RCV000617929] Chr21:34370517 [GRCh38]
Chr21:35742816 [GRCh37]
Chr21:21q22.11
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35726628-35905168)x3 copy number gain not provided [RCV000585397] Chr21:35726628..35905168 [GRCh37]
Chr21:21q22.11-22.12
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35726225-35906612)x3 copy number gain See cases [RCV000512317] Chr21:35726225..35906612 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_172201.1(KCNE2):c.204G>A (p.Leu68=) single nucleotide variant Long QT syndrome 6 [RCV000648402] Chr21:34370682 [GRCh38]
Chr21:35742981 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q22.11-22.2(chr21:33980213-42542987)x3 copy number gain not provided [RCV000684166] Chr21:33980213..42542987 [GRCh37]
Chr21:21q22.11-22.2
pathogenic
NM_172201.1(KCNE2):c.67A>T (p.Met23Leu) single nucleotide variant Long QT syndrome 6 [RCV000678938] Chr21:34370545 [GRCh38]
Chr21:35742844 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35717016-35904974)x3 copy number gain not provided [RCV000684136] Chr21:35717016..35904974 [GRCh37]
Chr21:21q22.11-22.12
likely benign
GRCh37/hg19 21q22.11-22.12(chr21:35313088-36864916)x3 copy number gain not provided [RCV000684159] Chr21:35313088..36864916 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_172201.1(KCNE2):c.122T>C (p.Val41Ala) single nucleotide variant Long QT syndrome 6 [RCV000700143] Chr21:34370600 [GRCh38]
Chr21:35742899 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q22.11(chr21:34281910-35748170)x1 copy number loss not provided [RCV000709834] Chr21:34281910..35748170 [GRCh37]
Chr21:21q22.11
not provided
NC_000021.8:g.(?_35742772)_(36421202_?)del deletion Long QT syndrome 6 [RCV000708545] Chr21:35742772..36421202 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NC_000021.8:g.35304341_36865875del deletion Thrombocytopenia [RCV001003847] Chr21:35304341..36865875 [GRCh37]
Chr21:21q22.11-22.12
likely pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 copy number gain not provided [RCV000741419] Chr21:10827533..48100155 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35724739-35900759)x3 copy number gain not provided [RCV000741543] Chr21:35724739..35900759 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21q22.11-22.12(chr21:35724739-35904697)x3 copy number gain not provided [RCV000741544] Chr21:35724739..35904697 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21q22.11-22.12(chr21:35724739-35907413)x3 copy number gain not provided [RCV000741545] Chr21:35724739..35907413 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21q22.11-22.12(chr21:35725651-35904053)x3 copy number gain not provided [RCV000741546] Chr21:35725651..35904053 [GRCh37]
Chr21:21q22.11-22.12
benign
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 copy number gain not provided [RCV000741413] Chr21:10699330..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 copy number gain not provided [RCV000741415] Chr21:10704198..48117896 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 copy number gain not provided [RCV000741418] Chr21:10824040..48090629 [GRCh37]
Chr21:21p11.2-q22.3
pathogenic
NM_172201.1(KCNE2):c.294C>G (p.Ser98Arg) single nucleotide variant Long QT syndrome 6 [RCV000853599] Chr21:34370772 [GRCh38]
Chr21:35743071 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.-12-27T>C single nucleotide variant not provided [RCV001568681] Chr21:34370440 [GRCh38]
Chr21:35742739 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.309A>G (p.Leu103=) single nucleotide variant Long QT syndrome 6 [RCV000864704] Chr21:34370787 [GRCh38]
Chr21:35743086 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.351T>G (p.Ala117=) single nucleotide variant Long QT syndrome 6 [RCV001414321]|not provided [RCV000866245] Chr21:34370829 [GRCh38]
Chr21:35743128 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.318G>A (p.Ser106=) single nucleotide variant Long QT syndrome 6 [RCV001463902]|not provided [RCV000869802] Chr21:34370796 [GRCh38]
Chr21:35743095 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.348G>A (p.Ala116=) single nucleotide variant Long QT syndrome 6 [RCV000869347] Chr21:34370826 [GRCh38]
Chr21:35743125 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.2T>C (p.Met1Thr) single nucleotide variant Long QT syndrome 6 [RCV000816121] Chr21:34370480 [GRCh38]
Chr21:35742779 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35725728-35906042)x3 copy number gain not provided [RCV000849964] Chr21:35725728..35906042 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NC_000021.8:g.(?_35736455)_(35821942_?)dup duplication Long QT syndrome 6 [RCV001346940]|Long QT syndrome [RCV000824661] Chr21:35736455..35821942 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_172201.1(KCNE2):c.30G>A (p.Thr10=) single nucleotide variant Long QT syndrome 6 [RCV001498762]|not provided [RCV000830344] Chr21:34370508 [GRCh38]
Chr21:35742807 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.1(KCNE2):c.-297G>A single nucleotide variant not provided [RCV000843727] Chr21:34363867 [GRCh38]
Chr21:35736166 [GRCh37]
Chr21:21q22.11
benign
NM_172201.1(KCNE2):c.75T>C (p.Asn25=) single nucleotide variant Long QT syndrome 6 [RCV000875438] Chr21:34370553 [GRCh38]
Chr21:35742852 [GRCh37]
Chr21:21q22.11
likely benign
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 copy number gain not provided [RCV000846937] Chr21:15006457..48097372 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:35716793-35900319)x3 copy number gain not provided [RCV000849746] Chr21:35716793..35900319 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35716793-35906868)x3 copy number gain not provided [RCV000845977] Chr21:35716793..35906868 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) single nucleotide variant Long QT syndrome 6 [RCV001228752] Chr21:34370720 [GRCh38]
Chr21:35743019 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35725728-35906868)x3 copy number gain not provided [RCV000847667] Chr21:35725728..35906868 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
GRCh37/hg19 21q22.11-22.12(chr21:35298070-36876005)x1 copy number loss not provided [RCV000846552] Chr21:35298070..36876005 [GRCh37]
Chr21:21q22.11-22.12
pathogenic
NM_172201.2(KCNE2):c.-13+313T>C single nucleotide variant not provided [RCV001548113] Chr21:34364464 [GRCh38]
Chr21:35736763 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.2(KCNE2):c.171T>G (p.Ile57Met) single nucleotide variant Long QT syndrome 6 [RCV001050335] Chr21:34370649 [GRCh38]
Chr21:35742948 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.160A>G (p.Met54Val) single nucleotide variant Long QT syndrome 6 [RCV001208257] Chr21:34370638 [GRCh38]
Chr21:35742937 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.*61C>T single nucleotide variant Atrial fibrillation, familial, 4 [RCV001142023]|Long QT syndrome 6 [RCV001142022] Chr21:34370911 [GRCh38]
Chr21:35743210 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.*11A>C single nucleotide variant Atrial fibrillation, familial, 4 [RCV001142021]|Long QT syndrome 6 [RCV001142020] Chr21:34370861 [GRCh38]
Chr21:35743160 [GRCh37]
Chr21:21q22.11
uncertain significance
NC_000021.8:g.35304355_36865958del deletion Thrombocytopenia [RCV001003848] Chr21:35304355..36865958 [GRCh37]
Chr21:21q22.11-22.12
likely pathogenic
GRCh37/hg19 21q22.11-22.12(chr21:33205064-36039022) copy number loss 21q22.11q22.12 microdeletion syndrome [RCV001093501] Chr21:33205064..36039022 [GRCh37]
Chr21:21q22.11-22.12
pathogenic
NM_172201.2(KCNE2):c.*234G>A single nucleotide variant Atrial fibrillation, familial, 4 [RCV001143831]|Long QT syndrome 6 [RCV001143832] Chr21:34371084 [GRCh38]
Chr21:35743383 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) single nucleotide variant Atrial fibrillation, familial, 4 [RCV001139399]|Long QT syndrome 6 [RCV001137161] Chr21:34370495 [GRCh38]
Chr21:35742794 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.178T>A (p.Phe60Ile) single nucleotide variant Atrial fibrillation, familial, 4 [RCV001142017]|Long QT syndrome 6 [RCV001142018] Chr21:34370656 [GRCh38]
Chr21:35742955 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp) single nucleotide variant Long QT syndrome 6 [RCV001228326] Chr21:34370850 [GRCh38]
Chr21:35743149 [GRCh37]
Chr21:21q22.11
uncertain significance
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3 copy number gain See cases [RCV001263025] Chr21:14629063..48090317 [GRCh37]
Chr21:21q11.2-22.3
pathogenic
NM_172201.2(KCNE2):c.221C>A (p.Ser74Tyr) single nucleotide variant Long QT syndrome 6 [RCV001302151] Chr21:34370699 [GRCh38]
Chr21:35742998 [GRCh37]
Chr21:21q22.11
uncertain significance
NC_000021.8:g.(?_32439271)_(37133458_?)dup duplication Parkinson disease 20, early-onset [RCV001338842] Chr21:32439271..37133458 [GRCh37]
Chr21:21q22.11-22.12
uncertain significance
NM_172201.2(KCNE2):c.344G>T (p.Gly115Val) single nucleotide variant Long QT syndrome 6 [RCV001299598] Chr21:34370822 [GRCh38]
Chr21:35743121 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.365C>T (p.Ser122Phe) single nucleotide variant Long QT syndrome 6 [RCV001306232] Chr21:34370843 [GRCh38]
Chr21:35743142 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.46C>T (p.Arg16Ter) single nucleotide variant Long QT syndrome 6 [RCV001313654] Chr21:34370524 [GRCh38]
Chr21:35742823 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.367C>T (p.Pro123Ser) single nucleotide variant Long QT syndrome 6 [RCV001307626] Chr21:34370845 [GRCh38]
Chr21:35743144 [GRCh37]
Chr21:21q22.11
uncertain significance
NC_000021.8:g.(?_35742768)_(35743160_?)del deletion Long QT syndrome 6 [RCV001316935] Chr21:35742768..35743160 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.293G>A (p.Ser98Asn) single nucleotide variant Long QT syndrome 6 [RCV001319648] Chr21:34370771 [GRCh38]
Chr21:35743070 [GRCh37]
Chr21:21q22.11
uncertain significance
NM_172201.2(KCNE2):c.246C>T (p.Asp82=) single nucleotide variant Long QT syndrome 6 [RCV001477437] Chr21:34370724 [GRCh38]
Chr21:35743023 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.2(KCNE2):c.228A>G (p.Arg76=) single nucleotide variant Long QT syndrome 6 [RCV001432402] Chr21:34370706 [GRCh38]
Chr21:35743005 [GRCh37]
Chr21:21q22.11
likely benign
NM_172201.2(KCNE2):c.87C>T (p.Asn29=) single nucleotide variant Long QT syndrome 6 [RCV001423327] Chr21:34370565 [GRCh38]
Chr21:35742864 [GRCh37]
Chr21:21q22.11
likely benign
NC_000021.8:g.35742772-?_36421202+?del deletion Familial platelet disorder with associated myeloid malignancy [RCV001385096] Chr21:35742772 [GRCh37]
Chr21:21q22.11
pathogenic
NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser) single nucleotide variant not specified [RCV001526947] Chr21:34370557 [GRCh38]
Chr21:35742856 [GRCh37]
Chr21:21q22.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6242 AgrOrtholog
COSMIC KCNE2 COSMIC
Ensembl Genes ENSG00000159197 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000290310 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000290310 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000159197 GTEx
HGNC ID HGNC:6242 ENTREZGENE
Human Proteome Map KCNE2 Human Proteome Map
InterPro K_chnl_KCNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_bsu_KCNE2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9992 UniProtKB/Swiss-Prot
NCBI Gene 9992 ENTREZGENE
OMIM 603796 OMIM
  611493 OMIM
  613693 OMIM
PANTHER PTHR15282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ISK_Channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNE2 RGD, PharmGKB
PRINTS KCNE2CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt KCNE2_HUMAN UniProtKB/Swiss-Prot
  Q2N1I3_HUMAN UniProtKB/TrEMBL
  Q9Y6J6 ENTREZGENE
UniProt Secondary A5H1P3 UniProtKB/Swiss-Prot
  D3DSF8 UniProtKB/Swiss-Prot
  Q52LJ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNE2  potassium voltage-gated channel subfamily E regulatory subunit 2    potassium channel, voltage gated subfamily E regulatory beta subunit 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNE2  potassium channel, voltage gated subfamily E regulatory beta subunit 2    potassium voltage-gated channel, Isk-related family, member 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 KCNE2  potassium voltage-gated channel, Isk-related family, member 2  KCNE2  potassium voltage-gated channel, Isk-related family, member 2  Symbol and/or name change 5135510 APPROVED