KCNE3 potassium voltage-gated channel subfamily E regulatory subunit 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCNE3provided by HGNC
Official Full Name: potassium voltage-gated channel subfamily E regulatory subunit 3provided by HGNC
Primary source: HGNC:HGNC:6243
See related: Ensembl:ENSG00000175538 MIM:604433; AllianceGenome:HGNC:6243
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HYPP; HOKPP; MiRP2; BRGDA6
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, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, isk-related subfamily. This member is a type I membrane protein, and a beta subunit that assembles with a potassium channel alpha-subunit to modulate the gating kinetics and enhance stability of the multimeric complex. This gene is prominently expressed in the kidney. A missense mutation in this gene is associated with hypokalemic periodic paralysis. [provided by RefSeq, Jul 2008]
Expression: Broad expression in duodenum (RPKM 10.8), stomach (RPKM 10.5) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q13.4

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (74454841..74467549, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (74384260..74396980, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (74165886..74178594, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Comparing the structural dynamics of the human KCNE3 in reconstituted micelle and lipid bilayered vesicle environments.
Title: Comparing the structural dynamics of the human KCNE3 in reconstituted micelle and lipid bilayered vesicle environments.
Regulation of human cardiac potassium channels by full-length KCNE3 and KCNE4 has been reported.
Title: Regulation of human cardiac potassium channels by full-length KCNE3 and KCNE4.
Structural, computational, biochemical, and electrophysiological studies lead to an atomically explicit integrative structural model of the KCNE3-KCNQ1 complex that explains how KCNE3 induces the constitutive activation of KCNQ1 channel activity, a crucial component in K(+) recycling.
Title: Structural basis for KCNE3 modulation of potassium recycling in epithelia.
Reported here are previously undiscovered protein-coding regions in exon 1 of hKCNE3 and hKCNE4 that extend their encoded extracellular domains by 44 and 51 residues, which yields full-length proteins of 147 and 221 residues, respectively.
Title: Novel exon 1 protein-coding regions N-terminally extend human KCNE3 and KCNE4.
Based on current evidence from published studies, neither of the two variants from KCNE was significantly associated with the risk of Meniere's disease--{REVIEW}
Title: Variants in the KCNE1 or KCNE3 gene and risk of Ménière's disease: A meta-analysis.
Data show that voltage-gated potassium channel KCNE3 directly affects the S4 movement in potassium channel KCNQ1.
Title: KCNE3 acts by promoting voltage sensor activation in KCNQ1.
KCNQ1/KCNE3 channels make only a small contribution to basolateral conductance in normal colonic crypts, with increased channel activity in UC appearing insufficient to prevent colonic cell depolarization in this disease.
Title: Upregulation of basolateral small conductance potassium channels (KCNQ1/KCNE3) in ulcerative colitis.
KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation
Title: KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.
A KCNE3 T4A mutation was identified in a Japanese patient presenting Brugada-pattern ECG and neurally mediated syncope.
Title: KCNE3 T4A as the genetic basis of Brugada-pattern electrocardiogram.
Allele frequencies are studied for 11 known variants of KCNE3 gene, of which two (F66F and R83H) are polymorphic but are not associated with chronic tinnitus.
Title: Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Brugada syndrome 6 MedGen: C2751089 OMIM: 613119 GeneReviews: Brugada Syndrome	not available

EBI GWAS Catalog

Description
Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486421

RH123748 (e-PCR)
- UniSTS:137771

PMC156606P1 (e-PCR)
- UniSTS:271408

SHGC-36243 (e-PCR)
- UniSTS:55153

RH67902 (e-PCR)
- UniSTS:77711

D11S3114 (e-PCR)
- UniSTS:152207

KCNE3_883 (e-PCR)
- UniSTS:277416

KCNE3_V173 (e-PCR)
- UniSTS:277416

SHGC-85010 (e-PCR)
- UniSTS:103391

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables potassium channel regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane transporter binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in intracellular chloride ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in membrane repolarization during action potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane repolarization during ventricular cardiac muscle cell action potential	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of delayed rectifier potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of delayed rectifier potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of membrane repolarization during ventricular cardiac muscle cell action potential	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of potassium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of voltage-gated potassium channel activity	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart rate by cardiac conduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of heart rate by cardiac conduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of ventricular cardiac muscle cell membrane repolarization	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion transport	IEA Inferred from Electronic Annotation more info
involved_in ventricular cardiac muscle cell action potential	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in basolateral part of cell	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in dendrite	IDA Inferred from Direct Assay more info	PubMed
located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body membrane	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
colocalizes_with plasma membrane	IPI Inferred from Physical Interaction more info	PubMed
located_in vesicle	IDA Inferred from Direct Assay more info	PubMed
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info
part_of voltage-gated potassium channel complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: potassium voltage-gated channel subfamily E member 3

Names: cardiac voltage-gated potassium channel accessory subunit; minK-related peptide 2; minimum potassium ion channel-related peptide 2; potassium channel subunit beta MiRP2; potassium channel, voltage gated subfamily E regulatory beta subunit 3; potassium voltage-gated channel, Isk-related family, member 3; voltage-gated K+ channel subunit MIRP2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011833.1 RefSeqGene

Range

5001..17715

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_439

mRNA and Protein(s)

NM_005472.5 → NP_005463.1 potassium voltage-gated channel subfamily E member 3

See identical proteins and their annotated locations for NP_005463.1

Status: REVIEWED

Source sequence(s)

AP001372, DQ192291

Consensus CDS

CCDS8232.1

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6

Related

ENSP00000310557.4, ENST00000310128.9

Conserved Domains (1) summary

pfam02060
Location:59 → 96

ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

74454841..74467549 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544713.3 → XP_011543015.1 potassium voltage-gated channel subfamily E member 3 isoform X1

Conserved Domains (1) summary

pfam02060
Location:92 → 140

ISK_Channel; Slow voltage-gated potassium channel
XM_017017047.2 → XP_016872536.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6

Conserved Domains (1) summary

pfam02060
Location:59 → 96

ISK_Channel; Slow voltage-gated potassium channel
XM_017017051.3 → XP_016872540.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6

Conserved Domains (1) summary

pfam02060
Location:59 → 96

ISK_Channel; Slow voltage-gated potassium channel
XM_017017048.2 → XP_016872537.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6

Conserved Domains (1) summary

pfam02060
Location:59 → 96

ISK_Channel; Slow voltage-gated potassium channel
XM_047426177.1 → XP_047282133.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6
XM_017017049.2 → XP_016872538.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6

Conserved Domains (1) summary

pfam02060
Location:59 → 96

ISK_Channel; Slow voltage-gated potassium channel
XM_047426176.1 → XP_047282132.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6

Related

ENSP00000433633.1, ENST00000525550.1

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

74384260..74396980 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054367358.1 → XP_054223333.1 potassium voltage-gated channel subfamily E member 3 isoform X1
XM_054367360.1 → XP_054223335.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6
XM_054367363.1 → XP_054223338.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6
XM_054367361.1 → XP_054223336.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6
XM_054367362.1 → XP_054223337.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6
XM_054367359.1 → XP_054223334.1 potassium voltage-gated channel subfamily E member 3 isoform X2

UniProtKB/Swiss-Prot

Q9Y6H6

UniProtKB/TrEMBL

Q2N1I1, Q6IAE6