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Aliases for KCNQ3 Gene

Aliases for KCNQ3 Gene

  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 3 2 3
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 3 2 3
  • Voltage-Gated Potassium Channel Subunit Kv7.3 3 4
  • Potassium Channel Subunit Alpha KvLQT3 3 4
  • BFNC2 3 6
  • EBN2 3 6
  • Potassium Channel, Voltage-Gated, Subfamily Q, Member 3 3
  • Potassium Voltage-Gated Channel Subfamily KQT Member 3 3
  • KQT-Like 3 4
  • KV7.3 3

External Ids for KCNQ3 Gene

Previous HGNC Symbols for KCNQ3 Gene

  • EBN2

Previous GeneCards Identifiers for KCNQ3 Gene

  • GC08M131852
  • GC08M133173
  • GC08M132813
  • GC08M133097
  • GC08M133210
  • GC08M128458

Summaries for KCNQ3 Gene

Entrez Gene Summary for KCNQ3 Gene

  • This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

GeneCards Summary for KCNQ3 Gene

KCNQ3 (Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 3) is a Protein Coding gene. Diseases associated with KCNQ3 include seizures, benign neonatal, type 2 and kcnq3-related benign familial neonatal epilepsy. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include voltage-gated potassium channel activity and potassium channel activity. An important paralog of this gene is KCNQ4.

UniProtKB/Swiss-Prot for KCNQ3 Gene

  • Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs

Tocris Summary for KCNQ3 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNQ3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ3 Gene

Genomics for KCNQ3 Gene

Regulatory Elements for KCNQ3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for KCNQ3 Gene

Start:
132,120,858 bp from pter
End:
132,480,953 bp from pter
Size:
360,096 bases
Orientation:
Minus strand

Genomic View for KCNQ3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNQ3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNQ3 Gene

Proteins for KCNQ3 Gene

  • Protein details for KCNQ3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43525-KCNQ3_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily KQT member 3
    Protein Accession:
    O43525
    Secondary Accessions:
    • A2VCT8
    • B4DJY4
    • E7EQ89

    Protein attributes for KCNQ3 Gene

    Size:
    872 amino acids
    Molecular mass:
    96742 Da
    Quaternary structure:
    • Heteromultimer with KCNQ2 or KCNQ5. May associate with KCNE2
    Miscellaneous:
    • Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ3(mut) and KCNQ2 at the ratio of 1:1, or of KCNQ3(mut), KCNQ3(wt) and KCNQ2 at the ratio of 1:1:2, to mimic the situation in a heterozygous patient with BFNC2 disease
    SequenceCaution:
    • Sequence=AAI28577.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for KCNQ3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNQ3 Gene

Proteomics data for KCNQ3 Gene at MOPED

Post-translational modifications for KCNQ3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KCNQ3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNQ3 Gene

Domains for KCNQ3 Gene

Gene Families for KCNQ3 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

Suggested Antigen Peptide Sequences for KCNQ3 Gene

Graphical View of Domain Structure for InterPro Entry

O43525

UniProtKB/Swiss-Prot:

KCNQ3_HUMAN :
  • O43525
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily.
genes like me logo Genes that share domains with KCNQ3: view

Function for KCNQ3 Gene

Molecular function for KCNQ3 Gene

GENATLAS Biochemistry: potassium voltage-gated channel,KQT subfamily,member 3,coassembling with KCNQ2 to contribute M-channel,localized in central nervous system (hyppocampus,neocortex and cerebellar cortex)
UniProtKB/Swiss-Prot Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly activating and deactivating potassium conductance which plays a critical role in determining the subthreshold electrical excitability of neurons as well as the responsiveness to synaptic inputs

Gene Ontology (GO) - Molecular Function for KCNQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005249 voltage-gated potassium channel activity TAS 9677360
GO:0005251 delayed rectifier potassium channel activity IBA --
GO:0005267 potassium channel activity TAS 9836639
genes like me logo Genes that share ontologies with KCNQ3: view
genes like me logo Genes that share phenotypes with KCNQ3: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNQ3 Gene

Localization for KCNQ3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNQ3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KCNQ3 Gene COMPARTMENTS Subcellular localization image for KCNQ3 gene
Compartment Confidence
plasma membrane 4
nucleus 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for KCNQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
GO:0033268 node of Ranvier ISS 16525039
genes like me logo Genes that share ontologies with KCNQ3: view

Pathways for KCNQ3 Gene

genes like me logo Genes that share pathways with KCNQ3: view

Pathways by source for KCNQ3 Gene

1 PharmGKB pathway for KCNQ3 Gene
1 KEGG pathway for KCNQ3 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for KCNQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0006813 potassium ion transport TAS 9677360
GO:0007268 synaptic transmission TAS --
GO:0007411 axon guidance TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNQ3: view

Compounds for KCNQ3 Gene

(5) Tocris Compounds for KCNQ3 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker [504-24-5]
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
Margatoxin Potent KV1.3 channel blocker [145808-47-5]
MaxiPost Potassium channel modulator; exerts subtype-specific effects [187523-35-9]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents [122955-13-9]

(1) HMDB Compounds for KCNQ3 Gene

Compound Synonyms Cas Number PubMed IDs
Potassium
  • K+
7440-09-7

(3) Drugbank Compounds for KCNQ3 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Diclofenac
  • Diclofenac Acid
15307-86-5 target other
Ezogabine
  • D-23129
150812-12-7 target
Meclofenamic acid
  • Acide meclofenamique [INN-French]
644-62-2 target other

(4) IUPHAR Ligand for KCNQ3 Gene

Ligand Type Action Affinity Pubmed IDs
PIP2 Activator Agonist 5.3
retigabine Activator None 5
linopirdine Pore Blocker None 4.5
tetraethylammonium Inhibitor None

(4) Novoseek inferred chemical compound relationships for KCNQ3 Gene

Compound -log(P) Hits PubMed IDs
potassium 74.5 25
tetraethylammonium 29.1 1
sodium 18.9 2
acetylcholine 0 1
genes like me logo Genes that share compounds with KCNQ3: view

Transcripts for KCNQ3 Gene

Unigene Clusters for KCNQ3 Gene

Potassium voltage-gated channel, KQT-like subfamily, member 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KCNQ3

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KCNQ3

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ3 Gene

No ASD Table

Relevant External Links for KCNQ3 Gene

GeneLoc Exon Structure for
KCNQ3
ECgene alternative splicing isoforms for
KCNQ3

Expression for KCNQ3 Gene

mRNA expression in normal human tissues for KCNQ3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KCNQ3 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (5.9), Brain - Anterior cingulate cortex (BA24) (5.8), Brain - Cortex (5.5), Brain - Nucleus accumbens (basal ganglia) (5.1), Brain - Caudate (basal ganglia) (5.0), Brain - Putamen (basal ganglia) (5.0), and Brain - Amygdala (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNQ3 Gene

SOURCE GeneReport for Unigene cluster for KCNQ3 Gene Hs.374023

mRNA Expression by UniProt/SwissProt for KCNQ3 Gene

O43525-KCNQ3_HUMAN
Tissue specificity: Predominantly expressed in brain
genes like me logo Genes that share expressions with KCNQ3: view

In Situ Assay Products

Orthologs for KCNQ3 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNQ3 35
  • 99.54 (n)
  • 99.77 (a)
KCNQ3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNQ3 35
  • 90.94 (n)
  • 94.34 (a)
KCNQ3 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNQ3 35
  • 91.54 (n)
  • 95.21 (a)
KCNQ3 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnq3 35
  • 90.44 (n)
  • 95.92 (a)
Kcnq3 16
Kcnq3 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNQ3 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ3 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnq3 35
  • 90.6 (n)
  • 95.56 (a)
chicken
(Gallus gallus)
Aves KCNQ3 35
  • 79.31 (n)
  • 87.48 (a)
KCNQ3 36
  • 86 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNQ3 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnq3 35
  • 70.98 (n)
  • 77.53 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnq3 35
  • 68.38 (n)
  • 72.84 (a)
kcnq3 36
  • 76 (a)
OneToMany
KCNQ3 (2 of 2) 36
  • 61 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kqt-2 36
  • 19 (a)
OneToMany
kqt-1 37
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for KCNQ3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNQ3 Gene

ENSEMBL:
Gene Tree for KCNQ3 (if available)
TreeFam:
Gene Tree for KCNQ3 (if available)

Paralogs for KCNQ3 Gene

Paralogs for KCNQ3 Gene

Selected SIMAP similar genes for KCNQ3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KCNQ3: view

Variants for KCNQ3 Gene

Sequence variations from dbSNP and Humsavar for KCNQ3 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs713148 -- 132,196,158(+) ATATG(C/T)TTTCT intron-variant
rs726576 -- 132,267,626(+) TCTTA(C/T)TACAG intron-variant
rs747849 -- 132,148,828(+) atttg(A/G)gctca intron-variant
rs747850 -- 132,148,915(+) gtgag(A/T)tttct intron-variant
rs747892 -- 132,149,413(-) ggtta(C/T)ggaac intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNQ3 Gene

Variant ID Type Subtype PubMed ID
nsv891453 CNV Gain 21882294
esv2737595 CNV Deletion 23290073
esv2737597 CNV Deletion 23290073
esv2737598 CNV Deletion 23290073
esv275047 CNV Gain+Loss 21479260
nsv891455 CNV Gain 21882294
nsv465817 CNV Loss 19166990
esv28543 CNV Gain 19812545
nsv527996 CNV Loss 19592680
dgv2251e1 CNV Complex 17122850
dgv2252e1 CNV Complex 17122850
esv1004567 CNV Deletion 20482838

Relevant External Links for KCNQ3 Gene

HapMap Linkage Disequilibrium report
KCNQ3
Human Gene Mutation Database (HGMD)
KCNQ3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ3 Gene

Disorders for KCNQ3 Gene

(1) OMIM Diseases for KCNQ3 Gene (602232)

UniProtKB/Swiss-Prot

KCNQ3_HUMAN
  • Seizures, benign familial neonatal 2 (BFNS2) [MIM:121201]: A disorder characterized by clusters of seizures occurring in the first days of life. Most patients have spontaneous remission by 12 months of age and show normal psychomotor development. The disorder is distinguished from benign familial infantile seizures by an earlier age at onset. {ECO:0000269 PubMed:10852552, ECO:0000269 PubMed:14534157, ECO:0000269 PubMed:9425900}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in KCNQ3 may be involved in epileptic disorders. These are characterized by paroxysmal transient disturbances of the electrical activity of the brain that may be manifested as episodic impairment or loss of consciousness, abnormal motor phenomena, psychic or sensory disturbances, or perturbation of the autonomic nervous system. {ECO:0000269 PubMed:22612257}.

(4) University of Copenhagen DISEASES for KCNQ3 Gene

(7) Novoseek inferred disease relationships for KCNQ3 Gene

Disease -log(P) Hits PubMed IDs
familial benign neonatal convulsions 98.6 19
neonatal convulsions benign 90.1 2
epilepsy, idiopathic generalized 84.1 4
epilepsy frontal lobe 78.3 3
epilepsy 74.2 13

Relevant External Links for KCNQ3

Genetic Association Database (GAD)
KCNQ3
Human Genome Epidemiology (HuGE) Navigator
KCNQ3
genes like me logo Genes that share disorders with KCNQ3: view

Publications for KCNQ3 Gene

  1. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. (PMID: 9872318) Schroeder B.C. … Jentsch T.J. (Nature 1998) 3 4 23
  2. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. (PMID: 9677360) Yang W.-P. … Blanar M.A. (J. Biol. Chem. 1998) 3 4 23
  3. Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current. (PMID: 10684873) Shapiro M.S. … Hille B. (J. Neurosci. 2000) 3 4 23
  4. Surface expression and single channel properties of KCNQ2/KCNQ3, M- type K+ channels involved in epilepsy. (PMID: 10788442) Schwake M. … Jentsch T.J. (J. Biol. Chem. 2000) 3 4 23
  5. A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. (PMID: 10852552) Hirose S. … Mitsudome A. (Ann. Neurol. 2000) 3 4 23

Products for KCNQ3 Gene

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Sources for KCNQ3 Gene

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