KCNE4 (potassium voltage-gated channel subfamily E regulatory subunit 4) - Rat Genome Database

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Gene: KCNE4 (potassium voltage-gated channel subfamily E regulatory subunit 4) Homo sapiens
Analyze
Symbol: KCNE4
Name: potassium voltage-gated channel subfamily E regulatory subunit 4
RGD ID: 1346142
HGNC Page HGNC
Description: Enables transmembrane transporter binding activity. Predicted to be involved in several processes, including ion transmembrane transport; regulation of heart rate by cardiac conduction; and regulation of ion transmembrane transport. Predicted to be located in apical plasma membrane. Predicted to be integral component of membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: cardiac voltage-gated potassium channel accessory subunit 4; MGC20353; minimum potassium ion channel-related peptide 3; MINK-related peptide 3; MIRP3; potassium channel subunit beta MiRP3; potassium channel, voltage gated subfamily E regulatory beta subunit 4; potassium voltage-gated channel subfamily E member 4; potassium voltage-gated channel, Isk-related family, member 4
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 Ensembl2223,051,814 - 223,198,399 (+)EnsemblGRCh38hg38GRCh38
GRCh382223,052,190 - 223,055,637 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372223,916,908 - 223,920,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,625,106 - 223,628,599 (+)NCBINCBI36hg18NCBI36
Build 342223,742,431 - 223,744,133NCBI
Celera2217,682,314 - 217,685,808 (+)NCBI
Cytogenetic Map2q36.1NCBI
HuRef2215,768,183 - 215,771,892 (+)NCBIHuRef
CHM1_12223,923,002 - 223,926,710 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

References

Additional References at PubMed
PMID:8889548   PMID:12096056   PMID:12477932   PMID:12670483   PMID:12944270   PMID:15342556   PMID:15489334   PMID:15707997   PMID:15815621   PMID:16303284   PMID:16563243   PMID:17016049  
PMID:18029348   PMID:18279388   PMID:18463315   PMID:19029186   PMID:19684603   PMID:19687231   PMID:19773357   PMID:20498229   PMID:20533308   PMID:20966902   PMID:21118809   PMID:21873635  
PMID:23866632   PMID:27107012   PMID:27162025   PMID:27802162   PMID:27922120   PMID:28981946   PMID:30969795   PMID:32296183  


Genomics

Comparative Map Data
KCNE4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2223,051,814 - 223,198,399 (+)EnsemblGRCh38hg38GRCh38
GRCh382223,052,190 - 223,055,637 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372223,916,908 - 223,920,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362223,625,106 - 223,628,599 (+)NCBINCBI36hg18NCBI36
Build 342223,742,431 - 223,744,133NCBI
Celera2217,682,314 - 217,685,808 (+)NCBI
Cytogenetic Map2q36.1NCBI
HuRef2215,768,183 - 215,771,892 (+)NCBIHuRef
CHM1_12223,923,002 - 223,926,710 (+)NCBICHM1_1
Kcne4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39178,794,628 - 78,797,749 (+)NCBIGRCm39mm39
GRCm39 Ensembl178,794,475 - 78,797,745 (+)Ensembl
GRCm38178,816,911 - 78,820,032 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl178,816,758 - 78,820,028 (+)EnsemblGRCm38mm10GRCm38
MGSCv37178,813,524 - 78,816,600 (+)NCBIGRCm37mm9NCBIm37
MGSCv36178,695,973 - 78,699,049 (+)NCBImm8
MGSCv36179,687,642 - 79,690,718 (+)NCBImm8
Cytogenetic Map1C4NCBI
Kcne4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2980,243,429 - 80,251,533 (+)NCBI
Rnor_6.0 Ensembl984,689,150 - 84,690,338 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0984,688,873 - 84,693,066 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0984,440,098 - 84,448,108 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4978,200,904 - 78,202,092 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1978,384,322 - 78,385,511 (+)NCBI
Celera977,752,308 - 77,753,496 (+)NCBICelera
Cytogenetic Map9q34NCBI
Kcne4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545310,822,977 - 10,826,191 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545310,822,977 - 10,826,191 (-)NCBIChiLan1.0ChiLan1.0
KCNE4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B228,869,393 - 228,873,101 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B228,869,393 - 228,873,101 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B110,291,194 - 110,294,996 (+)NCBIMhudiblu_PPA_v0panPan3
KCNE4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13728,994,797 - 28,998,596 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3728,996,105 - 28,996,990 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3729,831,026 - 29,834,649 (+)NCBI
ROS_Cfam_1.03729,020,674 - 29,024,293 (+)NCBI
UMICH_Zoey_3.13728,930,228 - 28,933,850 (+)NCBI
UNSW_CanFamBas_1.03728,864,748 - 28,868,366 (+)NCBI
UU_Cfam_GSD_1.03728,875,316 - 28,878,940 (+)NCBI
Kcne4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303178,596,335 - 178,599,723 (+)NCBI
SpeTri2.0NW_0049365694,939,477 - 4,942,096 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KCNE4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15124,912,405 - 124,915,780 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115124,910,708 - 124,915,787 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215138,615,216 - 138,619,085 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KCNE4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110108,970,868 - 108,973,080 (+)NCBI
Vero_WHO_p1.0NW_02366604090,393,360 - 90,397,358 (-)NCBI
Kcne4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248232,239,132 - 2,244,758 (-)NCBI

Position Markers
KCNE4_2454  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372223,917,952 - 223,918,704UniSTSGRCh37
Build 362223,626,196 - 223,626,948RGDNCBI36
Celera2217,683,405 - 217,684,157RGD
HuRef2215,769,489 - 215,770,241UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1706
Count of miRNA genes:661
Interacting mature miRNAs:740
Transcripts:ENST00000281830, ENST00000488477, ENST00000604125
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 946 1403 767 31 83 25 1771 596 876 122 394 651 11 1 866 1231 2
Low 1418 827 862 499 612 344 2508 1580 2775 276 989 887 158 338 1555 4 2
Below cutoff 70 568 96 93 694 95 77 21 82 19 73 72 5 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000281830   ⟹   ENSP00000281830
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,051,814 - 223,055,637 (+)Ensembl
RefSeq Acc Id: ENST00000488477
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2223,052,200 - 223,198,399 (+)Ensembl
RefSeq Acc Id: NM_080671   ⟹   NP_542402
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,052,190 - 223,055,637 (+)NCBI
GRCh372223,916,648 - 223,920,355 (+)NCBI
Build 362223,625,106 - 223,628,599 (+)NCBI Archive
HuRef2215,768,183 - 215,771,892 (+)NCBI
CHM1_12223,923,002 - 223,926,710 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_542402   ⟸   NM_080671
- Sequence:
RefSeq Acc Id: ENSP00000281830   ⟸   ENST00000281830


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q36.1-36.2(chr2:221387419-224669350)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052635]|See cases [RCV000052635] Chr2:221387419..224669350 [GRCh38]
Chr2:222252139..225534067 [GRCh37]
Chr2:221960383..225242311 [NCBI36]
Chr2:2q36.1-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q36.1-36.2(chr2:221663502-224426183)x1 copy number loss See cases [RCV000135355] Chr2:221663502..224426183 [GRCh38]
Chr2:222528222..225290900 [GRCh37]
Chr2:222236466..224999144 [NCBI36]
Chr2:2q36.1-36.2
pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q36.1(chr2:223917655-224104275)x3 copy number gain See cases [RCV000448341] Chr2:223917655..224104275 [GRCh37]
Chr2:2q36.1
uncertain significance
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3
likely pathogenic
GRCh37/hg19 2q35-36.3(chr2:221439250-226170404)x1 copy number loss not provided [RCV000682155] Chr2:221439250..226170404 [GRCh37]
Chr2:2q35-36.3
pathogenic
GRCh37/hg19 2q35-36.2(chr2:220614743-225587770)x1 copy number loss not provided [RCV000682158] Chr2:220614743..225587770 [GRCh37]
Chr2:2q35-36.2
pathogenic
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q35-36.1(chr2:220608798-224217756)x1 copy number loss not provided [RCV000740901] Chr2:220608798..224217756 [GRCh37]
Chr2:2q35-36.1
pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2
pathogenic
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
GRCh37/hg19 2q36.1(chr2:222621434-224754689)x1 copy number loss not provided [RCV001259185] Chr2:222621434..224754689 [GRCh37]
Chr2:2q36.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6244 AgrOrtholog
COSMIC KCNE4 COSMIC
Ensembl Genes ENSG00000152049 Ensembl, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000281830 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000281830 UniProtKB/Swiss-Prot
GTEx ENSG00000152049 GTEx
HGNC ID HGNC:6244 ENTREZGENE
Human Proteome Map KCNE4 Human Proteome Map
InterPro K_chnl_KCNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23704 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23704 ENTREZGENE
OMIM 607775 OMIM
PANTHER PTHR15282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ISK_Channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB KCNE4 RGD, PharmGKB
PRINTS KCNECHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5H1P5_HUMAN UniProtKB/TrEMBL
  KCNE4_HUMAN UniProtKB/Swiss-Prot
  Q2N1I0_HUMAN UniProtKB/TrEMBL
  Q8WWG9 ENTREZGENE
UniProt Secondary B7Z275 UniProtKB/Swiss-Prot
  Q53SM4 UniProtKB/Swiss-Prot
  Q96CC4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNE4  potassium voltage-gated channel subfamily E regulatory subunit 4    potassium channel, voltage gated subfamily E regulatory beta subunit 4  Symbol and/or name change 5135510 APPROVED
2015-01-20 KCNE4  potassium channel, voltage gated subfamily E regulatory beta subunit 4    potassium voltage-gated channel, Isk-related family, member 4  Symbol and/or name change 5135510 APPROVED
2011-08-17 KCNE4  potassium voltage-gated channel, Isk-related family, member 4  KCNE4  potassium voltage-gated channel, Isk-related family, member 4  Symbol and/or name change 5135510 APPROVED