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

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9992
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium voltage-gated channel subfamily E regulatory subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCNE2
Synonyms (NCBI Gene) Gene synonyms aliases
ATFB4, LQT5, LQT6, MIRP1
Chromosome Chromosome number
21
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
21q22.11
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
miRTarBase ID miRNA Experiments Reference
MIRT1080820 hsa-miR-3119 CLIP-seq
MIRT1080821 hsa-miR-3145-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(48)
GO ID Ontology Definition Evidence Reference
GO:0005242 Function Inward rectifier potassium channel activity IDA 10219239
GO:0005249 Function Voltage-gated potassium channel activity IEA
GO:0005251 Function Delayed rectifier potassium channel activity IBA
GO:0005251 Function Delayed rectifier potassium channel activity IDA 10219239
GO:0005267 Function Potassium channel activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603796 6242 ENSG00000159197
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y6J6
Protein name Potassium voltage-gated channel subfamily E member 2 (MinK-related peptide 1) (MiRP1) (Minimum potassium ion channel-related peptide 1) (Potassium channel subunit beta MiRP1)
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 (PubMed:10219239, PubMed:11034315, PubM
PDB 2M0Q
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02060 ISK_Channel 4 → 116 Slow voltage-gated potassium channel Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, heart, skeletal muscle, pancreas, placenta, kidney, colon and thymus. A small but significant expression is found in liver, ovary, testis, prostate, small intestine and leukocytes. Very low expression, nearly
Sequence
Sequence length 123
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Gastric acid secretion   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)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital Long QT Syndrome congenital long qt syndrome rs16991654 N/A
Show/Hide Unknown Diseases (8)
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
Atrial Fibrillation atrial fibrillation, familial atrial fibrillation N/A N/A ClinVar, GenCC
cardiac arrhythmia Cardiac arrhythmia N/A N/A ClinVar
Cardiomyopathy Primary dilated cardiomyopathy N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arrhythmias Cardiac Associate 31337358
Atrial Fibrillation Associate 21924735, 21967835, 24460807, 31270966
Brugada Syndrome Associate 21967835
Carcinoma Hepatocellular Associate 31044566
Chronobiology Disorders Associate 20042375
Convulsions benign familial neonatal dominant form Associate 19863579
Coronary Artery Disease Associate 25093840
Gastritis Inhibit 23483772
Genetic Diseases Inborn Associate 20042375
Heart Diseases Associate 21967835