KCNE3 (potassium voltage-gated channel subfamily E regulatory subunit 3) - Rat Genome Database

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Gene: KCNE3 (potassium voltage-gated channel subfamily E regulatory subunit 3) Homo sapiens
Analyze
Symbol: KCNE3
Name: potassium voltage-gated channel subfamily E regulatory subunit 3
RGD ID: 1347000
HGNC Page HGNC:6243
Description: Enables potassium channel regulator activity. Involved in negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential; negative regulation of potassium ion transmembrane transport; and regulation of heart rate by cardiac conduction. Located in several cellular components, including membrane raft; neuronal cell body membrane; and perikaryon. Implicated in Brugada syndrome 6 and hypokalemic periodic paralysis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: BRGDA6; cardiac voltage-gated potassium channel accessory subunit; DKFZp781H21101; HOKPP; HYPP; MGC102685; MGC129924; minimum potassium ion channel-related peptide 2; minK-related peptide 2; MiRP2; potassium channel subunit beta MiRP2; potassium channel, voltage gated subfamily E regulatory beta subunit 3; potassium voltage-gated channel subfamily E member 3; potassium voltage-gated channel, Isk-related family, member 3; voltage-gated K+ channel subunit MIRP2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381174,454,841 - 74,467,549 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1174,454,841 - 74,467,729 (-)EnsemblGRCh38hg38GRCh38
GRCh371174,165,886 - 74,178,594 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,843,534 - 73,856,248 (-)NCBINCBI36Build 36hg18NCBI36
Build 341173,843,805 - 73,850,798NCBI
Celera1171,472,396 - 71,485,109 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1170,461,201 - 70,473,937 (-)NCBIHuRef
CHM1_11174,049,426 - 74,062,143 (-)NCBICHM1_1
T2T-CHM13v2.01174,384,260 - 74,396,980 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (ISO)
benzo[b]fluoranthene  (ISO)
Benzo[ghi]perylene  (ISO)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
Chromanol 293B  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
decabromodiphenyl ether  (ISO)
dextran sulfate  (ISO)
dibenz[a,h]anthracene  (ISO)
diethyl maleate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
etoposide  (ISO)
folic acid  (ISO)
furan  (ISO)
genistein  (EXP,ISO)
gentamycin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
L-methionine  (ISO)
leflunomide  (EXP,ISO)
lipopolysaccharide  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
mitomycin C  (ISO)
ozone  (ISO)
paracetamol  (ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium atom  (ISO)
progesterone  (EXP,ISO)
protein kinase inhibitor  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
tetraphene  (ISO)
Theaflavin 3,3'-digallate  (EXP)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Abbott GW, etal., Cell 1999 Apr 16;97(2):175-87.
2. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Abbott GW, etal., Cell. 2001 Jan 26;104(2):217-31.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889548   PMID:10646604   PMID:11104781   PMID:11680623   PMID:11874988   PMID:11956246   PMID:12414843   PMID:12477932   PMID:12954870   PMID:14504341   PMID:15037716   PMID:15212652  
PMID:15489334   PMID:16303284   PMID:16308347   PMID:16341674   PMID:16374062   PMID:16449802   PMID:16782062   PMID:17495071   PMID:18209471   PMID:19077539   PMID:19122847   PMID:19306396  
PMID:19913121   PMID:19961415   PMID:20034061   PMID:20040519   PMID:20301690   PMID:20533308   PMID:20628086   PMID:21873635   PMID:21899751   PMID:21900206   PMID:22144915   PMID:22190306  
PMID:22987075   PMID:26410412   PMID:26668384   PMID:26718405   PMID:26890422   PMID:27162025   PMID:27626070   PMID:27922120   PMID:32513696   PMID:33961781   PMID:35716725  


Genomics

Comparative Map Data
KCNE3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381174,454,841 - 74,467,549 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1174,454,841 - 74,467,729 (-)EnsemblGRCh38hg38GRCh38
GRCh371174,165,886 - 74,178,594 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361173,843,534 - 73,856,248 (-)NCBINCBI36Build 36hg18NCBI36
Build 341173,843,805 - 73,850,798NCBI
Celera1171,472,396 - 71,485,109 (-)NCBICelera
Cytogenetic Map11q13.4NCBI
HuRef1170,461,201 - 70,473,937 (-)NCBIHuRef
CHM1_11174,049,426 - 74,062,143 (-)NCBICHM1_1
T2T-CHM13v2.01174,384,260 - 74,396,980 (-)NCBIT2T-CHM13v2.0
Kcne3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39799,825,714 - 99,834,076 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl799,825,709 - 99,834,076 (+)EnsemblGRCm39 Ensembl
GRCm387100,176,507 - 100,184,869 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7100,176,502 - 100,184,869 (+)EnsemblGRCm38mm10GRCm38
MGSCv377107,327,207 - 107,333,374 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv367100,052,780 - 100,058,947 (+)NCBIMGSCv36mm8
Celera7100,513,245 - 100,519,198 (+)NCBICelera
Cytogenetic Map7E2NCBI
cM Map754.33NCBI
Kcne3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81163,936,035 - 163,942,998 (+)NCBIGRCr8
mRatBN7.21154,523,903 - 154,530,865 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1154,523,830 - 154,532,020 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1162,518,249 - 162,525,206 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01169,698,347 - 169,705,304 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01162,571,923 - 162,578,879 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01165,189,934 - 165,196,949 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1165,189,985 - 165,196,948 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01171,390,138 - 171,397,804 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41157,558,044 - 157,565,008 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11157,636,337 - 157,643,300 (+)NCBI
Celera1152,607,926 - 152,614,889 (+)NCBICelera
Cytogenetic Map1q32NCBI
Kcne3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541417,166,546 - 17,200,353 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541417,166,537 - 17,200,385 (+)NCBIChiLan1.0ChiLan1.0
KCNE3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2975,396,558 - 75,409,080 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11176,440,593 - 76,453,426 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01169,527,663 - 69,540,236 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11172,832,858 - 72,845,399 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1172,835,048 - 72,835,359 (-)Ensemblpanpan1.1panPan2
KCNE3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12123,860,727 - 23,872,194 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2123,871,648 - 23,871,947 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2123,625,823 - 23,638,780 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02124,063,194 - 24,076,168 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2124,074,135 - 24,074,434 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12123,860,571 - 23,873,532 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02124,057,896 - 24,070,858 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02123,975,487 - 23,988,456 (+)NCBIUU_Cfam_GSD_1.0
Kcne3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494761,876,838 - 61,888,024 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364983,478,039 - 3,478,350 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364983,477,313 - 3,487,580 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNE3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl98,810,720 - 8,822,494 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.198,810,716 - 8,822,191 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.299,649,248 - 9,660,859 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KCNE3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1165,699,558 - 65,710,305 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl165,700,156 - 65,700,467 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604360,150,565 - 60,161,017 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kcne3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248172,513,539 - 2,606,682 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248172,593,649 - 2,607,462 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KCNE3
135 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) single nucleotide variant Brugada syndrome 6 [RCV000538199]|Cardiomyopathy [RCV000852657]|Cardiovascular phenotype [RCV000253742]|Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities [RCV000988595]|Periodic paralysis [RCV000171813]|Syncope [RCV000415218]|not provided [RCV000005879]|not specified [RCV000223897] Chr11:74457316 [GRCh38]
Chr11:74168361 [GRCh37]
Chr11:11q13.4		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) single nucleotide variant Brugada syndrome 6 [RCV000005880]|Brugada syndrome [RCV000171754]|Cardiovascular phenotype [RCV000618438]|not provided [RCV000170965] Chr11:74457268 [GRCh38]
Chr11:74168313 [GRCh37]
Chr11:11q13.4		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) single nucleotide variant Brugada syndrome 6 [RCV000490275]|Cardiovascular phenotype [RCV000621765]|Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities [RCV000988596]|not provided [RCV000114366]|not specified [RCV000455941] Chr11:74457554 [GRCh38]
Chr11:74168599 [GRCh37]
Chr11:11q13.4		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5		 pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1		 pathogenic
NM_005472.5(KCNE3):c.-190+18C>T single nucleotide variant KCNE3-related disorder [RCV003895173]|not specified [RCV000170962] Chr11:74467380 [GRCh38]
Chr11:74178425 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_005472.5(KCNE3):c.20C>T (p.Thr7Met) single nucleotide variant Brugada syndrome 6 [RCV000530336]|Cardiovascular phenotype [RCV004020037]|not provided [RCV000767073]|not specified [RCV000170963] Chr11:74457544 [GRCh38]
Chr11:74168589 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_005472.5(KCNE3):c.263G>A (p.Arg88His) single nucleotide variant Brugada syndrome 6 [RCV000799497]|Cardiovascular phenotype [RCV002453583]|not provided [RCV000170964] Chr11:74457301 [GRCh38]
Chr11:74168346 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.280delG (p.Val94Cysfs) deletion Cardiac arrhythmia [RCV000170966] Chr11:74457284 [GRCh38]
Chr11:74168329 [GRCh37]
Chr11:11q13.4		 likely pathogenic
NM_005472.4(KCNE3):c.*17C>T single nucleotide variant not specified [RCV000126408] Chr11:74457235 [GRCh38]
Chr11:74168280 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_005472.5(KCNE3):c.-190+14C>G single nucleotide variant not specified [RCV000126409] Chr11:74467384 [GRCh38]
Chr11:74178429 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_005472.5(KCNE3):c.215T>G (p.Val72Gly) single nucleotide variant Brugada syndrome 6 [RCV001852076]|Cardiovascular phenotype [RCV004629155]|not provided [RCV000171661] Chr11:74457349 [GRCh38]
Chr11:74168394 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile) single nucleotide variant Brugada syndrome 6 [RCV001047989]|Cardiovascular phenotype [RCV000251523]|Long QT syndrome [RCV003318372] Chr11:74457538 [GRCh38]
Chr11:74168583 [GRCh37]
Chr11:11q13.4		 benign|uncertain significance
NM_005472.5(KCNE3):c.198T>C (p.Phe66=) single nucleotide variant Brugada syndrome 6 [RCV000999778]|Cardiovascular phenotype [RCV000245979]|not provided [RCV001539804]|not specified [RCV000250331] Chr11:74457366 [GRCh38]
Chr11:74457366..74457367 [GRCh38]
Chr11:74168411 [GRCh37]
Chr11:74168411..74168412 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_005472.5(KCNE3):c.*909_*910del deletion Brugada syndrome [RCV000304883] Chr11:74456342..74456343 [GRCh38]
Chr11:74167387..74167388 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*1459A>T single nucleotide variant Brugada syndrome [RCV000309948] Chr11:74455793 [GRCh38]
Chr11:74166838 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*667T>C single nucleotide variant Brugada syndrome [RCV000311159] Chr11:74456585 [GRCh38]
Chr11:74167630 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*1815C>T single nucleotide variant Brugada syndrome [RCV000316198] Chr11:74455437 [GRCh38]
Chr11:74166482 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*2096C>T single nucleotide variant Brugada syndrome [RCV000321855] Chr11:74455156 [GRCh38]
Chr11:74166201 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*2340A>T single nucleotide variant Brugada syndrome [RCV000322887] Chr11:74454912 [GRCh38]
Chr11:74165957 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*122C>T single nucleotide variant Brugada syndrome [RCV000324143] Chr11:74457130 [GRCh38]
Chr11:74168175 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*463C>T single nucleotide variant Brugada syndrome [RCV000326287] Chr11:74456789 [GRCh38]
Chr11:74167834 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*404C>T single nucleotide variant Brugada syndrome [RCV000327644] Chr11:74456848 [GRCh38]
Chr11:74167893 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*1073AT[17] microsatellite Brugada syndrome [RCV000331761]|not provided [RCV004693060] Chr11:74456155..74456156 [GRCh38]
Chr11:74167200..74167201 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1073A>T single nucleotide variant Brugada syndrome [RCV000332979] Chr11:74456179 [GRCh38]
Chr11:74167224 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*909C>T single nucleotide variant Brugada syndrome [RCV000336440] Chr11:74456343 [GRCh38]
Chr11:74167388 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*920_*922dup duplication Brugada syndrome [RCV000340003]|not provided [RCV004693062] Chr11:74456329..74456330 [GRCh38]
Chr11:74167374..74167375 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1510A>C single nucleotide variant Brugada syndrome [RCV000345072] Chr11:74455742 [GRCh38]
Chr11:74166787 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1438T>C single nucleotide variant Brugada syndrome [RCV000346048] Chr11:74455814 [GRCh38]
Chr11:74166859 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*996G>A single nucleotide variant Brugada syndrome [RCV000348227] Chr11:74456256 [GRCh38]
Chr11:74167301 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1521dup duplication Brugada syndrome [RCV000348671] Chr11:74455730..74455731 [GRCh38]
Chr11:74166775..74166776 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.-238G>A single nucleotide variant not provided [RCV001534157] Chr11:74467446 [GRCh38]
Chr11:74178491 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_005472.4(KCNE3):c.*1305G>A single nucleotide variant Brugada syndrome [RCV000353059] Chr11:74455947 [GRCh38]
Chr11:74166992 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*767T>C single nucleotide variant Brugada syndrome [RCV000355410] Chr11:74456485 [GRCh38]
Chr11:74167530 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1393G>T single nucleotide variant Brugada syndrome [RCV000360955] Chr11:74455859 [GRCh38]
Chr11:74166904 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*2242C>T single nucleotide variant Brugada syndrome [RCV000361281] Chr11:74455010 [GRCh38]
Chr11:74166055 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*2353C>T single nucleotide variant Brugada syndrome [RCV000362534] Chr11:74454899 [GRCh38]
Chr11:74165944 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*663A>G single nucleotide variant Brugada syndrome [RCV000370529] Chr11:74456589 [GRCh38]
Chr11:74167634 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*1754A>T single nucleotide variant Brugada syndrome [RCV000373223] Chr11:74455498 [GRCh38]
Chr11:74166543 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*2019C>T single nucleotide variant Brugada syndrome [RCV000374272] Chr11:74455233 [GRCh38]
Chr11:74166278 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*1211G>A single nucleotide variant Brugada syndrome [RCV000262558] Chr11:74456041 [GRCh38]
Chr11:74167086 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*2208G>C single nucleotide variant Brugada syndrome [RCV000264429] Chr11:74455044 [GRCh38]
Chr11:74166089 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*171G>A single nucleotide variant Brugada syndrome [RCV000377638] Chr11:74457081 [GRCh38]
Chr11:74168126 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*80A>G single nucleotide variant not provided [RCV001684206] Chr11:74457172 [GRCh38]
Chr11:74168217 [GRCh37]
Chr11:11q13.4		 benign|likely benign
NM_005472.4(KCNE3):c.*457C>T single nucleotide variant Brugada syndrome [RCV000380873] Chr11:74456795 [GRCh38]
Chr11:74167840 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1065G>A single nucleotide variant Brugada syndrome [RCV000382854] Chr11:74456187 [GRCh38]
Chr11:74167232 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*995C>T single nucleotide variant Brugada syndrome [RCV000383557] Chr11:74456257 [GRCh38]
Chr11:74167302 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*1073AT[9] microsatellite Brugada syndrome [RCV000386156]|not provided [RCV004693061] Chr11:74456156..74456161 [GRCh38]
Chr11:74167201..74167206 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1393G>A single nucleotide variant Brugada syndrome [RCV000266530] Chr11:74455859 [GRCh38]
Chr11:74166904 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1431C>T single nucleotide variant Brugada syndrome [RCV000389926] Chr11:74455821 [GRCh38]
Chr11:74166866 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.*919_*922dup duplication Brugada syndrome [RCV000395528]|not provided [RCV004693063] Chr11:74456329..74456330 [GRCh38]
Chr11:74167374..74167375 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*1515dup duplication Brugada syndrome [RCV000395884] Chr11:74455736..74455737 [GRCh38]
Chr11:74166781..74166782 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*1484G>T single nucleotide variant Brugada syndrome [RCV000395889] Chr11:74455768 [GRCh38]
Chr11:74166813 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*888A>G single nucleotide variant Brugada syndrome [RCV000399322] Chr11:74456364 [GRCh38]
Chr11:74167409 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*2343C>G single nucleotide variant Brugada syndrome [RCV000270258] Chr11:74454909 [GRCh38]
Chr11:74165954 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*736G>C single nucleotide variant Brugada syndrome [RCV000274692] Chr11:74456516 [GRCh38]
Chr11:74167561 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.150A>T (p.Leu50=) single nucleotide variant Brugada syndrome 6 [RCV002531805]|Cardiovascular phenotype [RCV000619567] Chr11:74457414 [GRCh38]
Chr11:74168459 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*589C>A single nucleotide variant Brugada syndrome [RCV000275972] Chr11:74456663 [GRCh38]
Chr11:74167708 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*448C>T single nucleotide variant Brugada syndrome [RCV000272389] Chr11:74456804 [GRCh38]
Chr11:74167849 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*1073AT[19] microsatellite Brugada syndrome [RCV000277856] Chr11:74456155..74456156 [GRCh38]
Chr11:74167200..74167201 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*38G>A single nucleotide variant Brugada syndrome [RCV000279697] Chr11:74457214 [GRCh38]
Chr11:74168259 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1977A>C single nucleotide variant Brugada syndrome [RCV000282115] Chr11:74455275 [GRCh38]
Chr11:74166320 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*161C>T single nucleotide variant Brugada syndrome [RCV000283134] Chr11:74457091 [GRCh38]
Chr11:74168136 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*923_*924insTTT insertion Brugada syndrome [RCV000285038] Chr11:74456328..74456329 [GRCh38]
Chr11:74167373..74167374 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1056C>G single nucleotide variant Brugada syndrome [RCV000288540] Chr11:74456196 [GRCh38]
Chr11:74167241 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1629T>C single nucleotide variant Brugada syndrome [RCV000293787] Chr11:74455623 [GRCh38]
Chr11:74166668 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.*1514_*1515dup duplication Brugada syndrome [RCV000294920] Chr11:74455736..74455737 [GRCh38]
Chr11:74166781..74166782 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.4(KCNE3):c.*1383C>T single nucleotide variant Brugada syndrome [RCV000298216] Chr11:74455869 [GRCh38]
Chr11:74166914 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*851G>A single nucleotide variant Brugada syndrome [RCV000301309] Chr11:74456401 [GRCh38]
Chr11:74167446 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.4(KCNE3):c.*1399T>C single nucleotide variant Brugada syndrome [RCV000301810] Chr11:74455853 [GRCh38]
Chr11:74166898 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.69del (p.Thr24fs) deletion Brugada syndrome 6 [RCV001860489]|Cardiovascular phenotype [RCV002360485]|not provided [RCV000627440] Chr11:74457495 [GRCh38]
Chr11:74168540 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.-12A>G single nucleotide variant not specified [RCV000413371] Chr11:74457575 [GRCh38]
Chr11:74168620 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.48C>T (p.Ala16=) single nucleotide variant Brugada syndrome 6 [RCV003505115]|not provided [RCV001721414] Chr11:74457516 [GRCh38]
Chr11:74168561 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.-40-17T>C single nucleotide variant not provided [RCV004703929]|not specified [RCV000442286] Chr11:74457620 [GRCh38]
Chr11:74168665 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.21G>A (p.Thr7=) single nucleotide variant Brugada syndrome 6 [RCV002059740]|Cardiovascular phenotype [RCV002429414]|not specified [RCV000421304] Chr11:74457543 [GRCh38]
Chr11:74168588 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.-30G>A single nucleotide variant not specified [RCV000429214] Chr11:74457593 [GRCh38]
Chr11:74168638 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.158G>A (p.Arg53His) single nucleotide variant Brugada syndrome 6 [RCV001058599]|Cardiovascular phenotype [RCV002402224]|not specified [RCV000454617] Chr11:74457406 [GRCh38]
Chr11:74168451 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr) single nucleotide variant Brugada syndrome 6 [RCV001243561]|Cardiovascular phenotype [RCV002436368]|not provided [RCV003392260]|not specified [RCV000455252] Chr11:74457562 [GRCh38]
Chr11:74168607 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln) single nucleotide variant Brugada syndrome 6 [RCV000531823]|Cardiovascular phenotype [RCV002384193] Chr11:74457469 [GRCh38]
Chr11:74168514 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu) single nucleotide variant Brugada syndrome 6 [RCV000647293]|Cardiovascular phenotype [RCV002358849] Chr11:74457444 [GRCh38]
Chr11:74168489 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.175A>C (p.Met59Leu) single nucleotide variant Brugada syndrome 6 [RCV000647294] Chr11:74457389 [GRCh38]
Chr11:74168434 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys) single nucleotide variant Brugada syndrome 6 [RCV000647295]|Cardiovascular phenotype [RCV003380663] Chr11:74457302 [GRCh38]
Chr11:74168347 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.310T>C (p.Ter104Gln) single nucleotide variant Brugada syndrome 6 [RCV000647296] Chr11:74457254 [GRCh38]
Chr11:74168299 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.37A>G (p.Ser13Gly) single nucleotide variant Cardiovascular phenotype [RCV000618816] Chr11:74457527 [GRCh38]
Chr11:74168572 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
NM_005472.5(KCNE3):c.67G>C (p.Ala23Pro) single nucleotide variant Brugada syndrome 6 [RCV000692580] Chr11:74457497 [GRCh38]
Chr11:74168542 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.116C>G (p.Pro39Arg) single nucleotide variant Brugada syndrome 6 [RCV000706541]|Cardiovascular phenotype [RCV002332510] Chr11:74457448 [GRCh38]
Chr11:74168493 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q13.4(chr11:74109166-74180489)x1 copy number loss not provided [RCV000750112] Chr11:74109166..74180489 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.*3C>T single nucleotide variant not provided [RCV001666869] Chr11:74457249 [GRCh38]
Chr11:74168294 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.228C>T (p.Ile76=) single nucleotide variant Brugada syndrome 6 [RCV000866332]|Cardiovascular phenotype [RCV002453964] Chr11:74457336 [GRCh38]
Chr11:74168381 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.-40-334A>G single nucleotide variant not provided [RCV000843726] Chr11:74457937 [GRCh38]
Chr11:74168982 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.49G>A (p.Val17Met) single nucleotide variant Brugada syndrome 6 [RCV000815401]|Cardiovascular phenotype [RCV003380747] Chr11:74457515 [GRCh38]
Chr11:74168560 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_005472.5(KCNE3):c.-19del deletion not provided [RCV000841409] Chr11:74457582 [GRCh38]
Chr11:74168627 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.46G>A (p.Ala16Thr) single nucleotide variant Brugada syndrome 6 [RCV003107075] Chr11:74457518 [GRCh38]
Chr11:74168563 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.65A>G (p.Asn22Ser) single nucleotide variant Prolonged QT interval [RCV001248794] Chr11:74457499 [GRCh38]
Chr11:74168544 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.279T>A (p.His93Gln) single nucleotide variant Brugada syndrome 6 [RCV001045984] Chr11:74457285 [GRCh38]
Chr11:74168330 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.-244G>A single nucleotide variant Brugada syndrome 6 [RCV002501980]|not provided [RCV001635950] Chr11:74467452 [GRCh38]
Chr11:74178497 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.-190+120del deletion not provided [RCV001718092] Chr11:74467278 [GRCh38]
Chr11:74178323 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.-190+119G>T single nucleotide variant not provided [RCV001694206] Chr11:74467279 [GRCh38]
Chr11:74178324 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.-190+236G>T single nucleotide variant not provided [RCV001665623] Chr11:74467162 [GRCh38]
Chr11:74178207 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys) single nucleotide variant Brugada syndrome 6 [RCV001303992]|Cardiovascular phenotype [RCV002447233]|Prolonged QT interval [RCV001248783] Chr11:74457323 [GRCh38]
Chr11:74168368 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.35A>G (p.Glu12Gly) single nucleotide variant Brugada syndrome 6 [RCV001361464] Chr11:74457529 [GRCh38]
Chr11:74168574 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.113G>A (p.Gly38Glu) single nucleotide variant Brugada syndrome 6 [RCV001308599] Chr11:74457451 [GRCh38]
Chr11:74168496 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.304A>G (p.Met102Val) single nucleotide variant Brugada syndrome 6 [RCV001300353]|Cardiovascular phenotype [RCV002447285]|Long QT syndrome [RCV003318400]|not provided [RCV001508316] Chr11:74457260 [GRCh38]
Chr11:74168305 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.222C>G (p.Ser74Arg) single nucleotide variant Brugada syndrome 6 [RCV001338293] Chr11:74457342 [GRCh38]
Chr11:74168387 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.94C>T (p.Arg32Trp) single nucleotide variant Brugada syndrome 6 [RCV001345442]|Cardiovascular phenotype [RCV003382542] Chr11:74457470 [GRCh38]
Chr11:74168515 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_005472.5(KCNE3):c.279T>C (p.His93=) single nucleotide variant Brugada syndrome 6 [RCV001400973]|Cardiovascular phenotype [RCV002438924] Chr11:74457285 [GRCh38]
Chr11:74168330 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.237C>T (p.Tyr79=) single nucleotide variant Brugada syndrome 6 [RCV001504917]|KCNE3-related disorder [RCV003900747] Chr11:74457327 [GRCh38]
Chr11:74168372 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.-245A>G single nucleotide variant Brugada syndrome 6 [RCV002506725]|not provided [RCV001685905] Chr11:74467453 [GRCh38]
Chr11:74178498 [GRCh37]
Chr11:11q13.4		 benign
NM_005472.5(KCNE3):c.40C>A (p.Leu14Met) single nucleotide variant Brugada syndrome 6 [RCV003107076] Chr11:74457524 [GRCh38]
Chr11:74168569 [GRCh37]
Chr11:11q13.4		 uncertain significance
NC_000011.10:g.74467603C>T single nucleotide variant not provided [RCV001752936] Chr11:74467603 [GRCh38]
Chr11:74178648 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.134A>C (p.Glu45Ala) single nucleotide variant Brugada syndrome 6 [RCV001971450] Chr11:74457430 [GRCh38]
Chr11:74168475 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.25A>G (p.Thr9Ala) single nucleotide variant Brugada syndrome 6 [RCV002007952] Chr11:74457539 [GRCh38]
Chr11:74168584 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.158G>T (p.Arg53Leu) single nucleotide variant Brugada syndrome 6 [RCV001913329] Chr11:74457406 [GRCh38]
Chr11:74168451 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.248G>C (p.Arg83Pro) single nucleotide variant Brugada syndrome 6 [RCV001918175]|Cardiovascular phenotype [RCV002425221] Chr11:74457316 [GRCh38]
Chr11:74168361 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.194T>C (p.Met65Thr) single nucleotide variant Brugada syndrome 6 [RCV001980459]|Cardiovascular phenotype [RCV002423202] Chr11:74457370 [GRCh38]
Chr11:74168415 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.159T>C (p.Arg53=) single nucleotide variant Brugada syndrome 6 [RCV002161896] Chr11:74457405 [GRCh38]
Chr11:74168450 [GRCh37]
Chr11:11q13.4		 likely benign
NC_000011.9:g.(?_71146421)_(75283128_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122786] Chr11:71146421..75283128 [GRCh37]
Chr11:11q13.4-13.5		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_005472.5(KCNE3):c.195G>A (p.Met65Ile) single nucleotide variant Brugada syndrome 6 [RCV003614165]|Cardiovascular phenotype [RCV002421704] Chr11:74457369 [GRCh38]
Chr11:74168414 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_005472.5(KCNE3):c.282G>A (p.Val94=) single nucleotide variant Cardiovascular phenotype [RCV002435100] Chr11:74457282 [GRCh38]
Chr11:74168327 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.117A>G (p.Pro39=) single nucleotide variant Cardiovascular phenotype [RCV002342230] Chr11:74457447 [GRCh38]
Chr11:74168492 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.104C>T (p.Pro35Leu) single nucleotide variant Brugada syndrome 6 [RCV003505263]|Cardiovascular phenotype [RCV002401050] Chr11:74457460 [GRCh38]
Chr11:74168505 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.139C>G (p.Arg47Gly) single nucleotide variant Brugada syndrome 6 [RCV003774303]|Cardiovascular phenotype [RCV002389197] Chr11:74457425 [GRCh38]
Chr11:74168470 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.250A>G (p.Lys84Glu) single nucleotide variant Cardiovascular phenotype [RCV002431163] Chr11:74457314 [GRCh38]
Chr11:74168359 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.94del (p.Arg32fs) deletion Cardiovascular phenotype [RCV002374130] Chr11:74457470 [GRCh38]
Chr11:74168515 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.240C>T (p.Thr80=) single nucleotide variant Cardiovascular phenotype [RCV002459714] Chr11:74457324 [GRCh38]
Chr11:74168369 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.83A>G (p.Asn28Ser) single nucleotide variant Brugada syndrome 6 [RCV003505243]|Cardiovascular phenotype [RCV002434889] Chr11:74457481 [GRCh38]
Chr11:74168526 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.179A>G (p.Tyr60Cys) single nucleotide variant Cardiovascular phenotype [RCV002407838] Chr11:74457385 [GRCh38]
Chr11:74168430 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.242G>A (p.Arg81His) single nucleotide variant Brugada syndrome 6 [RCV003134436]|Cardiovascular phenotype [RCV002459871] Chr11:74457322 [GRCh38]
Chr11:74168367 [GRCh37]
Chr11:11q13.4		 likely benign|uncertain significance
NM_005472.5(KCNE3):c.277C>T (p.His93Tyr) single nucleotide variant Cardiovascular phenotype [RCV002439710] Chr11:74457287 [GRCh38]
Chr11:74168332 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.239C>T (p.Thr80Ile) single nucleotide variant Cardiovascular phenotype [RCV002450232] Chr11:74457325 [GRCh38]
Chr11:74168370 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.92G>A (p.Cys31Tyr) single nucleotide variant Brugada syndrome 6 [RCV003505245]|Cardiovascular phenotype [RCV002371534] Chr11:74457472 [GRCh38]
Chr11:74168517 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.177G>A (p.Met59Ile) single nucleotide variant Cardiovascular phenotype [RCV002404056] Chr11:74457387 [GRCh38]
Chr11:74168432 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.27C>G (p.Thr9=) single nucleotide variant Brugada syndrome 6 [RCV003505285]|Cardiovascular phenotype [RCV002441538] Chr11:74457537 [GRCh38]
Chr11:74168582 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys) single nucleotide variant Brugada syndrome 6 [RCV003102923]|Cardiovascular phenotype [RCV002441965] Chr11:74457269 [GRCh38]
Chr11:74168314 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.139C>T (p.Arg47Trp) single nucleotide variant Brugada syndrome 6 [RCV003774304]|Cardiovascular phenotype [RCV002389200] Chr11:74457425 [GRCh38]
Chr11:74168470 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.157C>T (p.Arg53Cys) single nucleotide variant Brugada syndrome 6 [RCV002903659]|Cardiovascular phenotype [RCV004066133] Chr11:74457407 [GRCh38]
Chr11:74168452 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.103C>T (p.Pro35Ser) single nucleotide variant Brugada syndrome 6 [RCV002971763] Chr11:74457461 [GRCh38]
Chr11:74168506 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.173A>G (p.Tyr58Cys) single nucleotide variant Brugada syndrome 6 [RCV003080219] Chr11:74457391 [GRCh38]
Chr11:74168436 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.138G>A (p.Arg46=) single nucleotide variant Brugada syndrome 6 [RCV002592311] Chr11:74457426 [GRCh38]
Chr11:74168471 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.254T>C (p.Val85Ala) single nucleotide variant Brugada syndrome 6 [RCV002663487]|Cardiovascular phenotype [RCV004066826] Chr11:74457310 [GRCh38]
Chr11:74168355 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.140G>A (p.Arg47Gln) single nucleotide variant Brugada syndrome 6 [RCV002602780] Chr11:74457424 [GRCh38]
Chr11:74168469 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.175A>G (p.Met59Val) single nucleotide variant Cardiovascular phenotype [RCV004080774] Chr11:74457389 [GRCh38]
Chr11:74168434 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.247C>T (p.Arg83Cys) single nucleotide variant Brugada syndrome 6 [RCV003067434] Chr11:74457317 [GRCh38]
Chr11:74168362 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.183T>C (p.Ile61=) single nucleotide variant Cardiovascular phenotype [RCV003167959] Chr11:74457381 [GRCh38]
Chr11:74168426 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.38G>A (p.Ser13Asn) single nucleotide variant Cardiovascular phenotype [RCV003382364] Chr11:74457526 [GRCh38]
Chr11:74168571 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1 copy number loss not provided [RCV003483128] Chr11:72308632..74236530 [GRCh37]
Chr11:11q13.4		 uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5		 pathogenic
NM_005472.5(KCNE3):c.278_279del (p.His93fs) deletion Brugada syndrome 6 [RCV003876441] Chr11:74457285..74457286 [GRCh38]
Chr11:74168330..74168331 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.22G>T (p.Glu8Ter) single nucleotide variant Brugada syndrome 6 [RCV003881947] Chr11:74457542 [GRCh38]
Chr11:74168587 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.52C>T (p.Leu18=) single nucleotide variant Brugada syndrome 6 [RCV003615209] Chr11:74457512 [GRCh38]
Chr11:74168557 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.104del (p.Pro35fs) deletion Cardiovascular phenotype [RCV004521396] Chr11:74457460 [GRCh38]
Chr11:74168505 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.130G>A (p.Glu44Lys) single nucleotide variant Cardiovascular phenotype [RCV004521398] Chr11:74457434 [GRCh38]
Chr11:74168479 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.278A>G (p.His93Arg) single nucleotide variant Cardiovascular phenotype [RCV004521399] Chr11:74457286 [GRCh38]
Chr11:74168331 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.94C>G (p.Arg32Gly) single nucleotide variant Cardiovascular phenotype [RCV004521400] Chr11:74457470 [GRCh38]
Chr11:74168515 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.115C>T (p.Pro39Ser) single nucleotide variant Cardiovascular phenotype [RCV004521397] Chr11:74457449 [GRCh38]
Chr11:74168494 [GRCh37]
Chr11:11q13.4		 likely benign
NM_005472.5(KCNE3):c.275A>T (p.Tyr92Phe) single nucleotide variant Cardiovascular phenotype [RCV004406036] Chr11:74457289 [GRCh38]
Chr11:74168334 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.287T>G (p.Ile96Ser) single nucleotide variant Cardiovascular phenotype [RCV004406037] Chr11:74457277 [GRCh38]
Chr11:74168322 [GRCh37]
Chr11:11q13.4		 uncertain significance
NM_005472.5(KCNE3):c.298G>A (p.Val100Met) single nucleotide variant Cardiovascular phenotype [RCV004636080] Chr11:74457266 [GRCh38]
Chr11:74168311 [GRCh37]
Chr11:11q13.4		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2136
Count of miRNA genes:969
Interacting mature miRNAs:1155
Transcripts:ENST00000310128, ENST00000525550, ENST00000526855, ENST00000529425, ENST00000531854, ENST00000532569
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
406886133GWAS535109_Hlip morphology measurement QTL GWAS535109 (human)0.000003lip morphology measurement117445523374455234Human
407127693GWAS776669_HAstigmatism QTL GWAS776669 (human)0.000005Astigmatism117445736674457367Human

Markers in Region
RH67902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,166,323 - 74,166,460UniSTSGRCh37
Build 361173,843,971 - 73,844,108RGDNCBI36
Celera1151,253,156 - 51,253,293RGD
Celera1171,472,833 - 71,472,970UniSTS
Cytogenetic Map11q13.4UniSTS
HuRef1170,461,638 - 70,461,775UniSTS
GeneMap99-GB4 RH Map11268.04UniSTS
NCBI RH Map11621.8UniSTS
SHGC-85010  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,170,621 - 74,170,932UniSTSGRCh37
Build 361173,848,269 - 73,848,580RGDNCBI36
Celera1171,477,131 - 71,477,442RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,465,958 - 70,466,269UniSTS
TNG Radiation Hybrid Map1133399.0UniSTS
RH123748  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,171,006 - 74,171,239UniSTSGRCh37
Build 361173,848,654 - 73,848,887RGDNCBI36
Celera1171,477,516 - 71,477,749RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,466,343 - 70,466,576UniSTS
TNG Radiation Hybrid Map1133399.0UniSTS
KCNE3_883  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,165,942 - 74,166,760UniSTSGRCh37
Build 361173,843,590 - 73,844,408RGDNCBI36
Celera1171,472,452 - 71,473,270RGD
HuRef1170,461,257 - 70,462,075UniSTS
SHGC-36243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371174,166,219 - 74,166,345UniSTSGRCh37
Build 361173,843,867 - 73,843,993RGDNCBI36
Celera1171,472,729 - 71,472,855UniSTS
Celera1151,253,271 - 51,253,397RGD
Cytogenetic Map11q13.4UniSTS
HuRef1170,461,534 - 70,461,660UniSTS
GeneMap99-G3 RH Map113235.0UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2781 2243 4961 1726 2337 6 623 1606 465 2260 6950 6127 53 3731 1 847 1742 1603 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054367363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF076531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF302494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM757131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD709836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK301015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ192291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ192292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ784805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR006135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000310128   ⟹   ENSP00000310557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,454,841 - 74,467,549 (-)Ensembl
Ensembl Acc Id: ENST00000525550   ⟹   ENSP00000433633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,457,082 - 74,462,367 (-)Ensembl
Ensembl Acc Id: ENST00000526855   ⟹   ENSP00000435539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,457,527 - 74,467,549 (-)Ensembl
Ensembl Acc Id: ENST00000529425   ⟹   ENSP00000434890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,457,415 - 74,467,550 (-)Ensembl
Ensembl Acc Id: ENST00000531854   ⟹   ENSP00000433697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,457,406 - 74,467,549 (-)Ensembl
Ensembl Acc Id: ENST00000532569   ⟹   ENSP00000431739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1174,457,266 - 74,467,729 (-)Ensembl
RefSeq Acc Id: NM_005472   ⟹   NP_005463
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,467,549 (-)NCBI
GRCh371174,165,886 - 74,178,600 (-)ENTREZGENE
Build 361173,843,534 - 73,856,248 (-)NCBI Archive
HuRef1170,461,201 - 70,473,937 (-)ENTREZGENE
CHM1_11174,049,426 - 74,062,143 (-)NCBI
T2T-CHM13v2.01174,384,260 - 74,396,980 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011544713   ⟹   XP_011543015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,467,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017047   ⟹   XP_016872536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,467,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017048   ⟹   XP_016872537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,467,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017049   ⟹   XP_016872538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,462,855 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017017051   ⟹   XP_016872540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,467,549 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047426176   ⟹   XP_047282132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,462,132 (-)NCBI
RefSeq Acc Id: XM_047426177   ⟹   XP_047282133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,454,841 - 74,467,321 (-)NCBI
RefSeq Acc Id: XM_054367358   ⟹   XP_054223333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01174,384,260 - 74,396,980 (-)NCBI
RefSeq Acc Id: XM_054367359   ⟹   XP_054223334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01174,384,260 - 74,392,282 (-)NCBI
RefSeq Acc Id: XM_054367360   ⟹   XP_054223335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01174,384,260 - 74,396,980 (-)NCBI
RefSeq Acc Id: XM_054367361   ⟹   XP_054223336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01174,384,260 - 74,396,980 (-)NCBI
RefSeq Acc Id: XM_054367362   ⟹   XP_054223337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01174,384,260 - 74,396,752 (-)NCBI
RefSeq Acc Id: XM_054367363   ⟹   XP_054223338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01174,384,260 - 74,396,980 (-)NCBI
Protein Sequences
Protein RefSeqs NP_005463 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543015 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872536 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872537 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872538 (Get FASTA)   NCBI Sequence Viewer  
  XP_016872540 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282132 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223333 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223335 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223336 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223337 (Get FASTA)   NCBI Sequence Viewer  
  XP_054223338 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD28089 (Get FASTA)   NCBI Sequence Viewer  
  AAG16255 (Get FASTA)   NCBI Sequence Viewer  
  AAI10613 (Get FASTA)   NCBI Sequence Viewer  
  AAI13744 (Get FASTA)   NCBI Sequence Viewer  
  ABB00304 (Get FASTA)   NCBI Sequence Viewer  
  ABB00305 (Get FASTA)   NCBI Sequence Viewer  
  ABQ01240 (Get FASTA)   NCBI Sequence Viewer  
  BAG34817 (Get FASTA)   NCBI Sequence Viewer  
  CAG33490 (Get FASTA)   NCBI Sequence Viewer  
  CAI56768 (Get FASTA)   NCBI Sequence Viewer  
  EAW74938 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000310557
  ENSP00000310557.4
  ENSP00000431739.1
  ENSP00000433633
  ENSP00000433633.1
  ENSP00000433697.1
  ENSP00000434890.1
  ENSP00000435539.1
GenBank Protein Q9Y6H6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_005463   ⟸   NM_005472
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL),   Q2N1I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543015   ⟸   XM_011544713
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016872537   ⟸   XM_017017048
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL),   Q2N1I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872536   ⟸   XM_017017047
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL),   Q2N1I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872540   ⟸   XM_017017051
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL),   Q2N1I1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016872538   ⟸   XM_017017049
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL),   Q2N1I1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000433697   ⟸   ENST00000531854
Ensembl Acc Id: ENSP00000431739   ⟸   ENST00000532569
Ensembl Acc Id: ENSP00000310557   ⟸   ENST00000310128
Ensembl Acc Id: ENSP00000433633   ⟸   ENST00000525550
Ensembl Acc Id: ENSP00000435539   ⟸   ENST00000526855
Ensembl Acc Id: ENSP00000434890   ⟸   ENST00000529425
RefSeq Acc Id: XP_047282133   ⟸   XM_047426177
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047282132   ⟸   XM_047426176
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223333   ⟸   XM_054367358
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054223335   ⟸   XM_054367360
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223338   ⟸   XM_054367363
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223336   ⟸   XM_054367361
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223337   ⟸   XM_054367362
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054223334   ⟸   XM_054367359
- Peptide Label: isoform X2
- UniProtKB: Q9Y6H6 (UniProtKB/Swiss-Prot),   Q6IAE6 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6H6-F1-model_v2 AlphaFold Q9Y6H6 1-103 view protein structure

Promoters
RGD ID:6789021
Promoter ID:HG_KWN:13706
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:UC001OVD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,850,599 - 73,851,099 (-)MPROMDB
RGD ID:6789020
Promoter ID:HG_KWN:13707
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:NM_005472
Position:
Human AssemblyChrPosition (strand)Source
Build 361173,856,044 - 73,856,544 (-)MPROMDB
RGD ID:7221539
Promoter ID:EPDNEW_H16515
Type:initiation region
Name:KCNE3_2
Description:potassium voltage-gated channel subfamily E regulatory subunit3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16516  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,462,132 - 74,462,192EPDNEW
RGD ID:7221541
Promoter ID:EPDNEW_H16516
Type:initiation region
Name:KCNE3_1
Description:potassium voltage-gated channel subfamily E regulatory subunit3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16515  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381174,467,549 - 74,467,609EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6243 AgrOrtholog
COSMIC KCNE3 COSMIC
Ensembl Genes ENSG00000175538 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310128 ENTREZGENE
  ENST00000310128.9 UniProtKB/Swiss-Prot
  ENST00000525550 ENTREZGENE
  ENST00000525550.1 UniProtKB/Swiss-Prot
  ENST00000526855.1 UniProtKB/TrEMBL
  ENST00000529425.5 UniProtKB/TrEMBL
  ENST00000531854.5 UniProtKB/TrEMBL
  ENST00000532569.5 UniProtKB/TrEMBL
GTEx ENSG00000175538 GTEx
HGNC ID HGNC:6243 ENTREZGENE
Human Proteome Map KCNE3 Human Proteome Map
InterPro K_chnl_KCNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_bsu_KCNE3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10008 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10008 ENTREZGENE
OMIM 604433 OMIM
PANTHER PTHR15282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15282:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ISK_Channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNE3 RGD, PharmGKB
PRINTS KCNE3CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNECHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E9PJQ7_HUMAN UniProtKB/TrEMBL
  E9PJV9_HUMAN UniProtKB/TrEMBL
  E9PN03_HUMAN UniProtKB/TrEMBL
  KCNE3_HUMAN UniProtKB/Swiss-Prot
  Q2N1I1 ENTREZGENE, UniProtKB/TrEMBL
  Q6IAE6 ENTREZGENE, UniProtKB/TrEMBL
  Q9Y6H6 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNE3  potassium voltage-gated channel subfamily E regulatory subunit 3  KCNE3  potassium channel, voltage gated subfamily E regulatory beta subunit 3  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNE3  potassium channel, voltage gated subfamily E regulatory beta subunit 3  KCNE3  potassium voltage-gated channel, Isk-related family, member 3  Symbol and/or name change 5135510 APPROVED