Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Kcnq4provided by MGI
Official Full Name: potassium voltage-gated channel, subfamily Q, member 4provided by MGI
Primary source: MGI:MGI:1926803
See related: Ensembl:ENSMUSG00000028631 AllianceGenome:MGI:1926803
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables voltage-gated potassium channel activity. Acts upstream of or within inner ear morphogenesis; potassium ion transport; and sensory perception of sound. Predicted to be located in plasma membrane. Predicted to be part of voltage-gated potassium channel complex. Predicted to be integral component of membrane. Is expressed in heart; utricle; and utricle epithelium. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 2A and sensorineural hearing loss. Orthologous to human KCNQ4 (potassium voltage-gated channel subfamily Q member 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in subcutaneous fat pad adult (RPKM 8.4), mammary gland adult (RPKM 7.6) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 D2.1; 4 56.52 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (120553331..120605809, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (120696134..120747491, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
Title: Natural History of KCNQ4 p.G285S Related Hearing Loss, Construction of iPSC and Mouse Model.
KCNQ4 potassium channel subunit deletion leads to exaggerated acoustic startle reflex in mice.
Title: KCNQ4 potassium channel subunit deletion leads to exaggerated acoustic startle reflex in mice.
Repressor element 1-silencing transcription factor deficiency yields profound hearing loss through Kv7.4 channel upsurge in auditory neurons and hair cells.
Title: Repressor element 1-silencing transcription factor deficiency yields profound hearing loss through K(v)7.4 channel upsurge in auditory neurons and hair cells.
A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
Title: A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.
Kv7.4 channels regulate potassium permeability in neuronal mitochondria.
Title: Kv7.4 channels regulate potassium permeability in neuronal mitochondria.
miR-153/KCNQ4 axis contributes to noise-induced hearing loss in a mouse model.
Title: miR-153/KCNQ4 axis contributes to noise-induced hearing loss in a mouse model.
KCNQ4 expression correlates with outer hair cell kinetics from basal to apical regions and is associated with cell death and hearing loss.
Title: Inner Hair Cell and Neuron Degeneration Contribute to Hearing Loss in a DFNA2-Like Mouse Model.
Results indicate that midbrain Kcnq4 expression regulates alcohol-related behaviors and provide evidence that KV7.4 channels are a critical mediator of excessive alcohol drinking.
Title: Identification and validation of midbrain Kcnq4 regulation of heavy alcohol consumption in rodents.
we provide strong evidence that Kv7.4 channels are a key modulator of the excitability of VTA dopaminergic neurons, which contributes to the development of depressive behaviour
Title: Selective targeting of M-type potassium K(v) 7.4 channels demonstrates their key role in the regulation of dopaminergic neuronal excitability and depression-like behaviour.
is concluded that K(V)7 channels, via nifedipine sensitive channels, have a role in the regulation of basal renal vascular tone.
Title: K(V)7.4 channels participate in the control of rodent renal vascular resting tone.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Kcnq4 (e-PCR), detects polymorphism
- UniSTS:507411

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables monoatomic ion channel activity	IEA Inferred from Electronic Annotation more info
enables potassium channel activity	ISO Inferred from Sequence Orthology more info
enables voltage-gated potassium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables voltage-gated potassium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within monoatomic ion transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of synaptic transmission, dopaminergic	ISO Inferred from Sequence Orthology more info
involved_in potassium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within potassium ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within potassium ion transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in potassium ion transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in membrane	IC Inferred by Curator more info	PubMed
part_of monoatomic ion channel complex	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of voltage-gated potassium channel complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: potassium voltage-gated channel subfamily KQT member 4

Names: KQT-like 4; potassium channel subunit alpha KvLQT4; voltage-gated potassium channel subunit Kv7.4

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.

mRNA and Protein(s)

NM_001081142.3 → NP_001074611.1 potassium voltage-gated channel subfamily KQT member 4 isoform 1

See identical proteins and their annotated locations for NP_001074611.1

Status: VALIDATED

Source sequence(s)

AL606924

Consensus CDS

CCDS38865.1

UniProtKB/Swiss-Prot

A2A7E8, Q8C9Y6, Q9JK97

Related

ENSMUSP00000030376.8, ENSMUST00000030376.8

Conserved Domains (4) summary

pfam00520
Location:127 → 331

Ion_trans; Ion transport protein

pfam03520
Location:471 → 654

KCNQ_channel; KCNQ voltage-gated potassium channel

pfam06664
Location:93 → 191

MIG-14_Wnt-bd; Wnt-binding factor required for Wnt secretion

pfam07885
Location:247 → 321

Ion_trans_2; Ion channel
NM_001425003.1 → NP_001411932.1 potassium voltage-gated channel subfamily KQT member 4 isoform 2

Status: VALIDATED

Source sequence(s)

AL606924
NM_001425004.1 → NP_001411933.1 potassium voltage-gated channel subfamily KQT member 4 isoform 4

Status: VALIDATED

Source sequence(s)

AL606924
NM_001425005.1 → NP_001411934.1 potassium voltage-gated channel subfamily KQT member 4 isoform 3

Status: VALIDATED

Source sequence(s)

AL606924
NM_001425006.1 → NP_001411935.1 potassium voltage-gated channel subfamily KQT member 4 isoform 5

Status: VALIDATED

Source sequence(s)

AL606924
NM_001425007.1 → NP_001411936.1 potassium voltage-gated channel subfamily KQT member 4 isoform 6

Status: VALIDATED

Source sequence(s)

AL606924
NM_001425008.1 → NP_001411937.1 potassium voltage-gated channel subfamily KQT member 4 isoform 6

Status: VALIDATED

Source sequence(s)

AL606924

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

120553331..120605809 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011240583.2 → XP_011238885.1 potassium voltage-gated channel subfamily KQT member 4 isoform X2

Conserved Domains (2) summary

pfam00520
Location:99 → 289

Ion_trans; Ion transport protein

pfam03520
Location:427 → 606

KCNQ_channel; KCNQ voltage-gated potassium channel
XM_006503255.2 → XP_006503318.1 potassium voltage-gated channel subfamily KQT member 4 isoform X3

Conserved Domains (2) summary

pfam00520
Location:99 → 331

Ion_trans; Ion transport protein

pfam03520
Location:415 → 594

KCNQ_channel; KCNQ voltage-gated potassium channel
XM_036164285.1 → XP_036020178.1 potassium voltage-gated channel subfamily KQT member 4 isoform X4

Conserved Domains (1) summary

pfam03520
Location:129 → 308

KCNQ_channel; KCNQ voltage-gated potassium channel