Gene Gene information from NCBI Gene database.
Entrez ID 10008
Gene name Potassium voltage-gated channel subfamily E regulatory subunit 3
Gene symbol KCNE3
Synonyms (NCBI Gene)
BRGDA6HOKPPHYPPMiRP2
Chromosome 11
Chromosome location 11q13.4
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
SNPs SNP information provided by dbSNP.
3
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.
218
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604433 6243 ENSG00000175538
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
137
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Brugada syndrome Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs121908441, rs41315535, rs757362085, rs113583236, rs764717543, rs886048651, rs60016728 RCV000171754
RCV000294920
RCV000304883
RCV000331761
RCV000279697
RCV000395884
RCV000285038
RCV000340003
RCV000386156
RCV000277856
RCV000395528
Brugada syndrome 6 Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign rs760938276, rs755300564, rs2135004460, rs199972628, rs768106696, rs114110954, rs115848768, rs2135004508, rs764834315, rs565287436, rs17215437, rs1485350191, rs2135003784, rs772286478, rs748308590
View all (43 more)
RCV001338293
RCV001345442
RCV001361464
RCV001400973
RCV001504917
RCV002501980
RCV002506725
RCV002007952
RCV001971450
RCV001913329
RCV001918175
RCV001980459
RCV002161896
RCV003505243
RCV003505245
RCV003774303
RCV003774304
RCV003505263
RCV003614165
RCV003134436
RCV003505285
RCV005058834
RCV003102923
RCV005098307
RCV000799497
RCV000530336
RCV003067434
RCV001852076
RCV003080219
RCV002602780
RCV002592311
RCV003107075
RCV003107076
RCV002663487
RCV000005880
RCV002903659
RCV002971763
RCV000999778
RCV001047989
RCV003615209
RCV003876441
RCV003881947
RCV003505115
RCV002059740
RCV001058599
RCV001243561
RCV000531823
RCV002531805
RCV001860489
RCV000647296
RCV000647295
RCV000647293
RCV000647294
RCV000706541
RCV000692580
RCV000815401
RCV000866332
RCV001045984
RCV001303992
RCV001300353
RCV001308599
Cardiovascular phenotype Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign rs755300564, rs199972628, rs17215437, rs1485350191, rs1863847241, rs772286478, rs748308590, rs1863848759, rs17215444, rs780882536, rs1009916288, rs1863843783, rs2496084723, rs2496084597, rs778413540
View all (41 more)
RCV003382542
RCV002438924
RCV002425221
RCV002423202
RCV002342230
RCV002434889
RCV002371534
RCV002374130
RCV002389197
RCV002389200
RCV002401050
RCV002407838
RCV002404056
RCV002450232
RCV002431163
RCV002421704
RCV002459714
RCV002459871
RCV002441538
RCV002439710
RCV002441965
RCV002435100
RCV002453583
RCV004020037
RCV005587305
RCV004629155
RCV005356287
RCV004066826
RCV000618438
RCV004066133
RCV004080774
RCV003167959
RCV000245979
RCV000251523
RCV003382364
RCV004992761
RCV004406036
RCV004406037
RCV004521396
RCV004521397
RCV004521398
RCV004521399
RCV004521400
RCV002429414
RCV002402224
RCV002436368
RCV002384193
RCV000619567
RCV000618816
RCV002360485
RCV003380663
RCV002358849
RCV002332510
RCV003380747
RCV002453964
RCV006347338
RCV002447233
RCV002447285
RCV005367826
KCNE3-related disorder Likely benign; Benign rs768106696, rs547401786 RCV003900747
RCV003895173
Associations from Text MiningDisease 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