Gene Gene information from NCBI Gene database.
Entrez ID 9992
Gene name Potassium voltage-gated channel subfamily E regulatory subunit 2
Gene symbol KCNE2
Synonyms (NCBI Gene)
ATFB4LQT5LQT6MIRP1
Chromosome 21
Chromosome location 21q22.11
Summary 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.
2
miRTarBase ID miRNA Experiments Reference
MIRT1080820 hsa-miR-3119 CLIP-seq
MIRT1080821 hsa-miR-3145-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603796 6242 ENSG00000159197
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
  KEGG  Reactome
  Gastric acid secretion   Phase 3 - rapid repolarisation
Phase 2 - plateau phase
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
50
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital long QT syndrome Pathogenic rs16991654 RCV000058363
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Long QT syndrome 3/6, digenic Pathogenic rs16991654 RCV000006428
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acquired long QT syndrome Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial fibrillation Conflicting classifications of pathogenicity; not provided ClinVar
CTD, Disgenet
CTD, Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 20625512
★☆☆☆☆
Found in Text Mining only
Andersen Syndrome Andersen Syndrome BEFREE 15176421, 16818210
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 25127743
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 31337358 Associate
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 26307149
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 26307149
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 14631130, 15368194, 24796621, 31270966
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation Atrial Fibrillation LHGDN 15368194
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation Atrial Fibrillation CTD_human_DG 15368194
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation Atrial fibrillation Pubtator 21924735, 21967835, 24460807, 31270966 Associate
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)