KCNE3 potassium voltage-gated channel, Isk-related family, member 3 [Homo sapiens (human)] - Gene

Summary

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Official Symbol: KCNE3provided by HGNC
Official Full Name: potassium voltage-gated channel, Isk-related family, member 3provided by HGNC
Primary source: HGNC:6243
See related: Ensembl:ENSG00000175538; HPRD:07256; MIM:604433; Vega:OTTHUMG00000165641
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
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]

Genomic context

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Location :: 11q13.4

Sequence :: Chromosome: 11; NC_000011.9 (74165886..74178600, complement)

See KCNE3 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

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.
The results of this study indicated that Kv7.5 contributes to the spatial regulation.
Title: Targeting of Kv7.5 (KCNQ5)/KCNE channels to surface microdomains of cell membranes.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
2 of the 8 MiRP2 extracellular domain acidic residues (D54 and D55) are important for KCNQ1-MiRP2 constitutive activation.
Title: A shared mechanism for lipid- and beta-subunit-coordinated stabilization of the activated K+ channel voltage sensor.
data show that SNPs in KCNE1 and KCNE3 are not associated with Meniere disease in Caucasians
Title: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.
The KCNE3 protein within the micellesis in monomeric form and acquires mainly alpha-helical conformation.
Title: Bacterial synthesis, purification, and solubilization of membrane protein KCNE3, a regulator of voltage-gated potassium channels.
KCNE3 plays a functional role in the modulation of I(to) in the human heart and suggest that mutations in KCNE3 can underlie the development of BrS.
Title: Functional effects of KCNE3 mutation and its role in the development of Brugada syndrome.
KCNE variants reveal a critical role of the beta subunit carboxyl terminus in PKA-dependent regulation of the IKs potassium channel, KCNQ1.
Title: KCNE variants reveal a critical role of the beta subunit carboxyl terminus in PKA-dependent regulation of the IKs potassium channel.
Abnormalities in the KCNE3 gene is a potential genetic risk factor for initiation and/or maintenance of atrial fibrillation.
Title: KCNE3 mutation V17M identified in a patient with lone atrial fibrillation.

Submit: New GeneRIF Correction See all (18)

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

Brugada syndrome is characterized by cardiac conduction abnormalities (ST-segment abnormalities in leads V1-V3 on ECG and a high risk for ventricular arrhythmias) that can result in sudden death. Brugada syndrome presents primarily during adulthood; however, age at diagnosis ranges from two days to 85 years. The mean age of sudden death is approximately 40 years. Clinical presentations may also include sudden infant death syndrome (SIDS) (death of a child during the first year of life without an identifiable cause) and the sudden unexpected nocturnal death syndrome (SUNDS), a typical presentation in individuals from Southeast Asia. Other conduction defects can include first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome.

Diagnosis Testing

Diagnosis is based on clinical findings. Mutations in eight genes (SCN5A, GPD1L, CACNA1C, CACNB2, SCN1B, KCNE3, SCN3B, and HCN4) are known to cause Brugada syndrome.

Genetic Counseling

Brugada syndrome is inherited in an autosomal dominant manner. Most individuals diagnosed with Brugada syndrome have an affected parent. The proportion of cases caused by a de novo mutation is estimated at 1%. Each child of an individual with Brugada syndrome has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in the family is known.

References

PMID: 20301690

NHGRI GWAS Catalog

Genome-wide meta-analysis of five Asian cohorts identifies PDGFRA as a susceptibility locus for corneal astigmatism.

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:115326	BioGRID:123702	C11orf68	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:108237	EEF1A1	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:108868	GAPDH	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:119432	GOLM1	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:109999	KIF5A	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:120905	LRIF1	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:117176	POLA2	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:111797	QARS	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:116356	RASSF1	BioGRID	PubMed	Two-hybrid
BioGRID:115326	BioGRID:117012	SLC44A1	BioGRID	PubMed	Two-hybrid

Pathways from BioSystems

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Protein digestion and absorption, organism-specific biosystem (from KEGG)
Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
Protein digestion and absorption, conserved biosystem (from KEGG)
Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...

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

Genotypes

See KCNE3 SNP Geneview Report
See KCNE3 SNP Genotype Report
See KCNE3 SNP Variation Viewer Report

Homology

Homologs of the KCNE3 gene: The KCNE3 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, and chicken.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Clone Names

MGC102685, MGC129924, DKFZp781H21101

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
potassium channel regulator activity	IEA Inferred from Electronic Annotation more info
voltage-gated potassium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
regulation of potassium ion transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
integral to membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

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

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_005472.4 → NP_005463.1 potassium voltage-gated channel subfamily E member 3

Status: REVIEWED

Source sequence(s)

AP001372, BC032235, DR006135

Consensus CDS

CCDS8232.1

UniProtKB/TrEMBL

Q6IAE6

UniProtKB/Swiss-Prot

Q9Y6H6

Related

ENSP00000310557, OTTHUMP00000230582, ENST00000310128, OTTHUMT00000385531

Conserved Domains (1) summary

pfam02060
Location:37 – 97
Blast Score: 93

ISK_Channel; Slow voltage-gated potassium channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p10 Primary Assembly

Range

74165886..74178600, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

70461201..70473937, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018922.1 Alternate CHM1_1.0

Range

74031185..74043904, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01017487.1 (10854..22312)	None
genomic	ABBA01017488.1	None
genomic	AMYH01003813.1 (64520..77239)	None
genomic	AP001372.4 (23440..36092)	None
genomic	CH471076.1	EAW74938.1
genomic	DQ784805.1	ABQ01240.1
mRNA	AF076531.1	AAD28089.1
mRNA	AF302494.1	AAG16255.1
mRNA	AK311876.1	BAG34817.1
mRNA	BC032235.1	None
mRNA	BC110612.2	AAI10613.1
mRNA	BC113743.1	AAI13744.1
mRNA	BM757131.1	None
mRNA	CD709836.1	None
mRNA	CK301015.1	None
mRNA	CR457209.1	CAG33490.1
mRNA	CR936625.1	CAI56768.1
mRNA	DQ192291.1	ABB00304.1
mRNA	DQ192292.1	ABB00305.1
mRNA	DR006135.1	None
other-genetic	DQ891015.2	ABM81941.1