Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10008
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium voltage-gated channel subfamily E regulatory subunit 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNE3
Synonyms (NCBI Gene) Gene synonyms aliases
BRGDA6, HOKPP, HYPP, MiRP2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.4
Summary Summary of gene provided in NCBI Entrez Gene.
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17215437 C>T Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign Coding sequence variant, missense variant
rs121908441 C>T Likely-benign, uncertain-significance, pathogenic Coding sequence variant, missense variant
rs200856070 T>C Uncertain-significance, likely-pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT522918 hsa-miR-1247-3p PAR-CLIP 23446348
MIRT522917 hsa-miR-6134 PAR-CLIP 23446348
MIRT522916 hsa-miR-6499-3p PAR-CLIP 23446348
MIRT522915 hsa-miR-3689d PAR-CLIP 23446348
MIRT522914 hsa-miR-6851-5p PAR-CLIP 23446348
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005251 Function Delayed rectifier potassium channel activity IBA
GO:0005515 Function Protein binding IPI 20533308
GO:0005737 Component Cytoplasm IDA 12954870
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604433 6243 ENSG00000175538
Protein
UniProt ID Q9Y6H6
Protein name Potassium voltage-gated channel subfamily E member 3 (MinK-related peptide 2) (MiRP2) (Minimum potassium ion channel-related peptide 2) (Potassium channel subunit beta MiRP2)
Protein function Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE3 beta subunit modulates the gatin
PDB 2NDJ , 6V00 , 6V01
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02060 ISK_Channel 20 100 Slow voltage-gated potassium channel Family
Tissue specificity TISSUE SPECIFICITY: Expressed in hippocampal neurons (at protein level) (PubMed:12954870). Widely expressed with highest levels in kidney and moderate levels in small intestine. {ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:12954870}.
Sequence
Sequence length 103
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein digestion and absorption   Phase 3 - rapid repolarisation
Phase 2 - plateau phase
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Brugada Syndrome brugada syndrome 6, brugada syndrome, Brugada syndrome N/A N/A ClinVar, GenCC
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Neuroticism Neuroticism N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 21924735, 21967835
Brugada Syndrome Associate 19122847, 21967835, 31627867
Cerebrovascular Disorders Associate 27716384
Colitis Ulcerative Associate 26718405
Colorectal Neoplasms Associate 37535601
Cushing's symphalangism Associate 27716384
Diarrhea Associate 26718405
Heart Diseases Associate 21967835
Long QT Syndrome Associate 21967835
Meniere Disease Associate 31058602