KCNE1B (potassium voltage-gated channel subfamily E regulatory subunit 1B) - Rat Genome Database

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Gene: KCNE1B (potassium voltage-gated channel subfamily E regulatory subunit 1B) Homo sapiens
Analyze
No known orthologs.
Symbol: KCNE1B
Name: potassium voltage-gated channel subfamily E regulatory subunit 1B
RGD ID: 10449335
Description: ENCODES a protein that exhibits voltage-gated potassium channel activity (inferred); INVOLVED IN membrane repolarization during ventricular cardiac muscle cell action potential (inferred); potassium ion transmembrane transport (inferred); FOUND IN apical plasma membrane (inferred); integral component of membrane (inferred); membrane raft (inferred)
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: potassium channel, voltage gated subfamily E regulatory beta subunit 1B; potassium voltage-gated channel subfamily E member 1B; putative uncharacterized protein LOC388820
RGD Orthologs
Alliance Genes
More Info homologs ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: GeneID:102723475 is on a scaffold that is thought to be a false duplication and thus this gene is likely redundant with GeneID:3753. [11 Jun 2021]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl217,816,675 - 7,829,926 (-)EnsemblGRCh38hg38GRCh38
GRCh38217,816,677 - 7,829,632 (-)NCBIGRCh38GRCh38hg38GRCh38
Cytogenetic Map21p11.2NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:21873635   PMID:30936463  


Genomics


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
Medium
Low 12 529 25 9 358 9 13 91 38 22 196 171 19 2
Below cutoff 1642 1669 854 321 686 207 2159 1217 1824 103 500 700 115 917 1232 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000617668   ⟹   ENSP00000480511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl217,819,361 - 7,825,797 (-)Ensembl
RefSeq Acc Id: ENST00000618699   ⟹   ENSP00000477875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl217,816,677 - 7,829,632 (-)Ensembl
RefSeq Acc Id: ENST00000622690   ⟹   ENSP00000478461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl217,816,675 - 7,829,926 (-)Ensembl
RefSeq Acc Id: ENST00000623803   ⟹   ENSP00000485125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl217,819,044 - 7,829,587 (-)Ensembl
RefSeq Acc Id: NM_001330065   ⟹   NP_001316994
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38217,816,677 - 7,829,632 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369869   ⟹   NP_001356798
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38217,816,677 - 7,829,632 (-)NCBI
RefSeq Acc Id: XM_006723946   ⟹   XP_006724009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38217,816,677 - 7,825,753 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001316994 (Get FASTA)   NCBI Sequence Viewer  
  NP_001356798 (Get FASTA)   NCBI Sequence Viewer  
  XP_006724009 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A087WTH5 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: XP_006724009   ⟸   XM_006723946
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001316994   ⟸   NM_001330065
- UniProtKB: A0A087WTH5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001356798   ⟸   NM_001369869
RefSeq Acc Id: ENSP00000478461   ⟸   ENST00000622690
RefSeq Acc Id: ENSP00000485125   ⟸   ENST00000623803
RefSeq Acc Id: ENSP00000480511   ⟸   ENST00000617668
RefSeq Acc Id: ENSP00000477875   ⟸   ENST00000618699


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 copy number gain See cases [RCV000050337] Chr21:7743711..7865746 [GRCh38]
Chr21:35734654..35879759 [GRCh37]
Chr21:34656524..34801629 [NCBI36]
Chr21:21p11.2
uncertain significance
GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 copy number gain See cases [RCV000052824] Chr21:7743711..7865746 [GRCh38]
Chr21:35740918..35888993 [GRCh37]
Chr21:34662788..34810863 [NCBI36]
Chr21:21p11.2
uncertain significance
GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 copy number gain See cases [RCV000052825] Chr21:7743711..7865746 [GRCh38]
Chr21:35740918..35900417 [GRCh37]
Chr21:34662788..34822287 [NCBI36]
Chr21:21p11.2
uncertain significance
GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 copy number gain See cases [RCV000052826] Chr21:7743711..7865746 [GRCh38]
Chr21:35740989..35901381 [GRCh37]
Chr21:34662859..34823251 [NCBI36]
Chr21:21p11.2
uncertain significance
GRCh38/hg38 21q22.11-22.12(chr21:7743711-7865746)x3 copy number gain See cases [RCV000140098] Chr21:7743711..7865746 [GRCh38]
Chr21:35734654..35898935 [GRCh37]
Chr21:34656524..34820805 [NCBI36]
Chr21:21q22.11-22.12
uncertain significance
GRCh38/hg38 21q22.12(chr21:7794011-7865746)x3 copy number gain See cases [RCV000141272] Chr21:7794011..7865746 [GRCh38]
Chr21:35796321..35893369 [GRCh37]
Chr21:34718191..34815239 [NCBI36]
Chr21:21q22.12
uncertain significance
GRCh38/hg38 21p11.2(chr21:7743711-7865746)x3 copy number gain See cases [RCV000148281] Chr21:7743711..7865746 [GRCh38]
Chr21:35734654..35879759 [GRCh37]
Chr21:34656524..34801629 [NCBI36]
Chr21:21p11.2
uncertain significance
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
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
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
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(chr21:7749532-42971047)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(chr21:7749532-46670440)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 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(chr21:7749532-46653084)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 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 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(chr21:7749532-46660999)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
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-q22.3(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-q22.13(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
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 [RCV000143120] Chr21:7749532..46677460 [GRCh38]
Chr21:15006457..48097372 [GRCh37]
Chr21:13928328..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 [RCV000143376] Chr21:7749532..46677460 [GRCh38]
Chr21:15006458..48097372 [GRCh37]
Chr21:13928329..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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:52280 AgrOrtholog
COSMIC KCNE1B COSMIC
Ensembl Genes ENSG00000276289 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000477875 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000478461 UniProtKB/TrEMBL
  ENSP00000480511 UniProtKB/TrEMBL
  ENSP00000485125 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000617668 UniProtKB/TrEMBL
  ENST00000618699 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000622690 UniProtKB/TrEMBL
  ENST00000623803 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000276289 GTEx
Human Proteome Map KCNE1B Human Proteome Map
InterPro K_chnl_KCNE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  K_chnl_volt-dep_bsu_KCNE1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:102723475 UniProtKB/Swiss-Prot
NCBI Gene KCNE1B ENTREZGENE
PANTHER PTHR15282 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ISK_Channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166181549 PharmGKB
PRINTS KCNE1CHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCNECHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTH5 ENTREZGENE
  A0A087WU88_HUMAN UniProtKB/TrEMBL
  A0A087WWU3_HUMAN UniProtKB/TrEMBL
  KCE1B_HUMAN UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 KCNE1B  potassium voltage-gated channel subfamily E regulatory subunit 1B    potassium channel, voltage gated subfamily E regulatory beta subunit 1B  Symbol and/or name change 5135510 APPROVED