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

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Summary

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; MGC102685; MGC129924; DKFZp781H21101
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]

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Genomic context

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

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

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

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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in KCNE1 or KCNE3 are not associated with Ménière disease in the Caucasian population.
Up-regulation and incrased activity of KV3.4 channels and their accessory subunit Mirp2 induced by amyloid peptide are involved in apoptotic neuronal death.
Title: Up-regulation and increased activity of KV3.4 channels and their accessory subunit MinK-related peptide 2 induced by amyloid peptide are involved in apoptotic neuronal death.

Submit: New GeneRIF Correction See all (16)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Hyperkalemic periodic paralysis

MIM: 170500

Hypokalemic periodic paralysis

MIM: 170400

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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

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

Process	Evidence Code	Pubs
ion transport	IEA Inferred from Electronic Annotation more info
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
membrane	IEA Inferred from Electronic Annotation more info

General protein information

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

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NCBI Reference Sequences (RefSeq)

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)

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: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 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)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP001372.4 (23439..36091)	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

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q2N1I1	GenPept	UniProtKB/TrEMBL:Q2N1I1
Q6IAE6	GenPept	UniProtKB/TrEMBL:Q6IAE6
Q9Y6H6.1	GenPept	UniProtKB/Swiss-Prot:Q9Y6H6