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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
  • Potassium Channel, Voltage-Gated, Subfamily Q, Member 3 3
  • KQT-Like 3 4
  • BFNC2 3
  • KV7.3 3
  • EBN2 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 kcnq3-related benign familial neonatal epilepsy and seizures, benign neonatal, type 2. Among its related pathways are Developmental Biology and L1CAM interactions. GO annotations related to this gene include ion 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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

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

Chromosome:
8
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

Antibody Products

No data available for DME Specific Peptides for KCNQ3 Gene

Domains & Families for KCNQ3 Gene

Gene Families for KCNQ3 Gene

Suggested Antigen Peptide Sequences for KCNQ3 Gene

Graphical View of Domain Structure for InterPro Entry

O43525

UniProtKB/Swiss-Prot:

KCNQ3_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily.
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
GO:0005516 calmodulin binding IEA --
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

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 , Transcription Factor Targets 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

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:0009986 cell surface IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with KCNQ3: view

Pathways & Interactions 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:0014003 oligodendrocyte development IEA --
genes like me logo Genes that share ontologies with KCNQ3: view

No data available for SIGNOR curated interactions for KCNQ3 Gene

Drugs & Compounds for KCNQ3 Gene

(11) Drugs for KCNQ3 Gene - From: IUPHAR, Tocris, DGIdb, DrugBank, NovoSeek, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezogabine Approved Pharma Activator, activator, Target 26
Amitriptyline Approved Pharma Antagonist, Target 96
Diclofenac Approved Pharma Channel blocker, Target, other 249
Meclofenamic acid Approved Pharma Target, other 1
tetraethylammonium Experimental Pharma Inhibitor 1

(5) Additional Compounds for KCNQ3 Gene - From: NovoSeek, Tocris, and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4'-Hydroxydiclofenac
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetic acid
  • 4'-Hydroxy diclofenac
  • 4'-OH DCF
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9
Kaliotoxin
145199-73-1
L-364,373
103342-82-1
PD 118057
313674-97-4
sodium
  • Sodium
  • Sodium ion
7440-23-5
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:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing 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) (x5.9), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Cortex (x5.5), Brain - Nucleus accumbens (basal ganglia) (x5.1), Brain - Caudate (basal ganglia) (x5.0), Brain - Putamen (basal ganglia) (x5.0), and Brain - Amygdala (x4.3).

Protein differential expression in normal tissues from HIPED for KCNQ3 Gene

This gene is overexpressed in Pancreatic juice (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KCNQ3: view

Protein tissue co-expression partners for KCNQ3 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia KCNQ3 35
  • 99.54 (n)
  • 99.77 (a)
KCNQ3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnq3 35
  • 90.6 (n)
  • 95.56 (a)
oppossum
(Monodelphis domestica)
Mammalia KCNQ3 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ3 36
  • 84 (a)
OneToOne
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-1 37
  • 38 (a)
kqt-2 36
  • 19 (a)
OneToMany
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

(5) 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

Variation tolerance for KCNQ3 Gene

Residual Variation Intolerance Score: 7.19% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.68; 65.99% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(19) MalaCards diseases for KCNQ3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
kcnq3-related benign familial neonatal epilepsy
  • benign neonatal epilepsy 2
seizures, benign neonatal, type 2
  • benign familial neonatal seizures 2
benign familial neonatal epilepsy
  • familial neonatal seizures
convulsions benign familial neonatal dominant form
  • autosomal dominant form of benign neonatal seizures
kcnq3-related disorders
- elite association
Search KCNQ3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNQ3_HUMAN
  • 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}.
  • 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.

Relevant External Links for KCNQ3

Genetic Association Database (GAD)
KCNQ3
Human Genome Epidemiology (HuGE) Navigator
KCNQ3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNQ3
genes like me logo Genes that share disorders with KCNQ3: view

No data available for Genatlas for KCNQ3 Gene

Publications for KCNQ3 Gene

  1. Neonatal seizures and long QT syndrome: a cardiocerebral channelopathy? (PMID: 19863579) Heron S.E. … Mulley J.C. (Epilepsia 2010) 23 67
  2. The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. (PMID: 20119593) Yum M.S. … Yoo H.W. (J. Korean Med. Sci. 2010) 23 67
  3. Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7.2 subunits in a sporadic case of benign familial neonatal seizures. (PMID: 19344764) Miceli F. … Taglialatela M. (Neurobiol. Dis. 2009) 23 67
  4. Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. (PMID: 19464834) Hahn A. … Neubauer B.A. (Brain Dev. 2009) 23 67
  5. Advances on the genetics of mendelian idiopathic epilepsies. (PMID: 19853223) Baulac S. … Baulac M. (Neurol Clin 2009) 23 67

Products for KCNQ3 Gene

Sources for KCNQ3 Gene

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