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. D... See more...

Aliases for KCNQ3 Gene

Aliases for KCNQ3 Gene

  • Potassium Voltage-Gated Channel Subfamily Q Member 3 2 3 5
  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 3 2 3
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 3 2 3
  • Potassium Voltage-Gated Channel Subfamily KQT Member 3 3 4
  • 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
  • KCNQ3 5
  • Kv7.3 2
  • 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 Voltage-Gated Channel Subfamily Q Member 3) is a Protein Coding gene. Diseases associated with KCNQ3 include Seizures, Benign Familial Neonatal, 2 and Benign Familial Neonatal Epilepsy. Among its related pathways are Circadian entrainment and Celecoxib Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNQ2.

UniProtKB/Swiss-Prot Summary for KCNQ3 Gene

  • 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. Therefore, it is important in the regulation of neuronal excitability.

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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KCNQ3 Gene

Genomics for KCNQ3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KCNQ3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J132480 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 263 +0.4 394 1.8 ZIC2 SIN3A CTCF EGR1 ZSCAN4 EGR2 EZH2 ZFHX2 ZNF335 ZBTB26 KCNQ3 RF00017-6762 HHLA1
GH08J132479 Promoter 0.6 Ensembl 260.7 +1.8 1794 0.6 SIN3A CTCF EZH2 RAD21 ZNF444 KCNQ3 RF00017-6762 HHLA1
GH08J131903 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 +575.9 575888 4.4 ZNF207 ZNF592 ZMYM3 POLR2A NFIC YY1 NONO CEBPB SMAD5 SIN3A EFR3A HSALNG0068660 lnc-OC90-2 lnc-PHF20L1-8 KCNQ3 OC90
GH08J132507 Enhancer 0.5 FANTOM5 Ensembl 12.2 -26.6 -26617 1 NFE2 JUND KCNQ3 piR-48369-204 HSALNG0068677 HPYR1 DNAAF11
GH08J132318 Enhancer 0.6 FANTOM5 Ensembl ENCODE 8.1 +161.6 161552 2.3 ZMYM3 KCNQ3 HHLA1 HSALNG0068674 HSALNG0068673
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KCNQ3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KCNQ3

Top Transcription factor binding sites by QIAGEN in the KCNQ3 gene promoter:
  • C/EBPalpha
  • Cdc5
  • Egr-1
  • Egr-4
  • HFH-3
  • Lmo2
  • MIF-1
  • Pax-5
  • STAT3

Genomic Locations for KCNQ3 Gene

Latest Assembly
chr8:132,120,858-132,481,095
(GRCh38/hg38)
Size:
360,238 bases
Orientation:
Minus strand

Previous Assembly
chr8:133,133,108-133,493,342
(GRCh37/hg19 by Entrez Gene)
Size:
360,235 bases
Orientation:
Minus strand

chr8:133,133,108-133,493,200
(GRCh37/hg19 by Ensembl)
Size:
360,093 bases
Orientation:
Minus strand

Genomic View for KCNQ3 Gene

Genes around KCNQ3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNQ3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Heterotetramer with KCNQ2; form the heterotetrameric M potassium channel (PubMed:27564677). Interacts with calmodulin; the interaction is calcium-independent, constitutive and participates in the proper assembly of a functional heterotetrameric M channel (PubMed:27564677). Heteromultimer with KCNQ5 (PubMed:11159685). May associate with KCNE2 (PubMed:11034315). Interacts with IQCJ-SCHIP1 (By similarity).
    SequenceCaution:
    • Sequence=AAI28577.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAI28577.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KCNQ3 Gene

    Alternative splice isoforms for KCNQ3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNQ3 Gene

Post-translational modifications for KCNQ3 Gene

  • KCNQ2/KCNQ3 are ubiquitinated by NEDD4L. Ubiquitination leads to protein degradation (Probable). Degradation induced by NEDD4L is inhibited by USP36 (PubMed:27445338).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNQ3 Gene

Domains & Families for KCNQ3 Gene

Gene Families for KCNQ3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for KCNQ3 Gene

InterPro:
Blocks:
  • KCNQ voltage-gated potassium channel, C-terminal
  • KCNQ3 voltage-gated potassium channel signature

Suggested Antigen Peptide Sequences for KCNQ3 Gene

GenScript: Design optimal peptide antigens:
  • KCNQ3 protein (A2VCT8_HUMAN)
  • Voltage-gated potassium channel subunit Kv7.3 (KCNQ3_HUMAN)

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

UniProtKB/Swiss-Prot Function:
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. Therefore, it is important in the regulation of neuronal excitability.
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)

Phenotypes From GWAS Catalog for KCNQ3 Gene

Gene Ontology (GO) - Molecular Function for KCNQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA,IDA 11159685
GO:0005251 delayed rectifier potassium channel activity IBA 21873635
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with KCNQ3: view
genes like me logo Genes that share phenotypes with KCNQ3: view

Human Phenotype Ontology for KCNQ3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNQ3 Gene

MGI Knock Outs for KCNQ3:

Animal Models for research

  • Taconic Biosciences Mouse Models for KCNQ3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNQ3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNQ3 Gene

Localization for KCNQ3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNQ3 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNQ3 gene
Compartment Confidence
plasma membrane 5
nucleus 3
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KCNQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA,TAS --
GO:0005887 integral component of plasma membrane IDA 10788442
GO:0008076 voltage-gated potassium channel complex IEA,IDA 11159685
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with KCNQ3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNQ3 Gene

Pathways & Interactions for KCNQ3 Gene

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

Pathways by source for KCNQ3 Gene

1 KEGG pathway for KCNQ3 Gene
1 Qiagen pathway for KCNQ3 Gene
  • Dopamine-DARPP32 Feedback onto cAMP Pathway

Gene Ontology (GO) - Biological Process for KCNQ3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0007268 chemical synaptic transmission TAS 9425900
GO:0034220 ion transmembrane transport IEA --
GO:0034765 regulation of ion transmembrane transport 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezogabine Approved, Investigational Pharma Activator, Target Activator of voltage-gated potassium channel, an anticonvulsant agent 29
Potassium Approved, Experimental Pharma 0
Amitriptyline Approved Pharma Target, inhibitor 116
Diclofenac Approved, Vet_approved Pharma Transporter, agonist 414
Enflurane Approved, Investigational, Vet_approved Pharma Target, inhibitor, activator 2

(3) Additional Compounds for KCNQ3 Gene - From: HMDB, Novoseek, and Tocris

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
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetate
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9
Kaliotoxin
145199-73-1

(4) Tocris Compounds for KCNQ3 Gene

Compound Action Cas Number
Chromanol 293B IKs blocker. Also blocks ICFTR 163163-23-3
Flupirtine maleate KV7 channel activator 75507-68-5
Kaliotoxin KV and KCa blocker 145199-73-1
MaxiPost Potassium channel modulator; exerts subtype-specific effects 187523-35-9
genes like me logo Genes that share compounds with KCNQ3: view

Transcripts for KCNQ3 Gene

mRNA/cDNA for KCNQ3 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KCNQ3

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

No ASD Table

Relevant External Links for KCNQ3 Gene

GeneLoc Exon Structure for
KCNQ3

Expression for KCNQ3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for KCNQ3 Gene



Protein tissue co-expression partners for KCNQ3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KCNQ3

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.

Evidence on tissue expression from TISSUES for KCNQ3 Gene

  • Nervous system(4.9)
  • Heart(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNQ3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • eye
  • head
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with KCNQ3: view

Primer products for research

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 29 30
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KCNQ3 29 30
  • 91.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KCNQ3 29 30
  • 90.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Kcnq3 29
  • 90.6 (n)
Mouse
(Mus musculus)
Mammalia Kcnq3 29 16 30
  • 90.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KCNQ3 30
  • 88 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ3 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves KCNQ3 29 30
  • 79.31 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia KCNQ3 30
  • 79 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia kcnq3 29
  • 70.98 (n)
Zebrafish
(Danio rerio)
Actinopterygii kcnq3 29 30
  • 68.38 (n)
OneToMany
KCNQ3 (2 of 2) 30
  • 61 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea kqt-1 31
  • 38 (a)
kqt-2 30
  • 19 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Species where no ortholog for KCNQ3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KCNQ3: view image
Alliance of Genome Resources:
Additional Orthologs for KCNQ3

Paralogs for KCNQ3 Gene

(5) SIMAP similar genes for KCNQ3 Gene using alignment to 3 proteins:

  • KCNQ3_HUMAN
  • A2VCT8_HUMAN
  • E7ET42_HUMAN
genes like me logo Genes that share paralogs with KCNQ3: view

Variants for KCNQ3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KCNQ3 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1001990 Uncertain Significance: Benign familial neonatal seizures 132,132,226(-) A/G
NM_004519.4(KCNQ3):c.1838T>C (p.Ile613Thr)
MISSENSE
1002077 Uncertain Significance: Benign familial neonatal seizures 132,140,124(-) G/C
NM_004519.4(KCNQ3):c.1520C>G (p.Pro507Arg)
MISSENSE
1003299 Uncertain Significance: Benign familial neonatal seizures 132,480,180(-) G/A
NM_004519.4(KCNQ3):c.353C>T (p.Pro118Leu)
MISSENSE
1003471 Uncertain Significance: Benign familial neonatal seizures 132,174,319(-) T/G
NM_004519.4(KCNQ3):c.964A>C (p.Lys322Gln)
MISSENSE
1006098 Uncertain Significance: Benign familial neonatal seizures 132,129,855(-) T/C
NM_004519.4(KCNQ3):c.2026A>G (p.Arg676Gly)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KCNQ3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2115e212 CNV loss 25503493
dgv3905n106 CNV deletion 24896259
esv1004567 CNV deletion 20482838
esv2737595 CNV deletion 23290073
esv2737597 CNV deletion 23290073
esv2737598 CNV deletion 23290073
esv275047 CNV gain+loss 21479260
esv2759642 CNV gain+loss 17122850
esv28543 CNV gain 19812545
esv3424503 CNV duplication 20981092
esv3572996 CNV loss 25503493
esv3618853 CNV gain 21293372
nsv1018172 CNV gain 25217958
nsv1024647 CNV loss 25217958
nsv1075582 CNV deletion 25765185
nsv465817 CNV loss 19166990
nsv474371 CNV novel sequence insertion 20440878
nsv527996 CNV loss 19592680
nsv612325 CNV gain 21841781
nsv612327 CNV loss 21841781
nsv949986 CNV deletion 24416366

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)

Additional Variant Information for KCNQ3 Gene

Human Gene Mutation Database (HGMD)
KCNQ3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNQ3
Leiden Open Variation Database (LOVD)
KCNQ3

SNP Genotyping and Copy Number Assays for research

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

Disorders for KCNQ3 Gene

MalaCards: The human disease database

(44) MalaCards diseases for KCNQ3 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
seizures, benign familial neonatal, 2
  • bfns2
benign familial neonatal epilepsy
  • familial neonatal seizures
benign neonatal seizures
  • benign familial neonatal seizures
convulsions benign familial neonatal dominant form
  • autosomal dominant form of benign neonatal seizures
benign familial infantile epilepsy
  • benign familial infantile convulsion
- elite association - COSMIC cancer census association via MalaCards
Search KCNQ3 in MalaCards View complete list of genes associated with diseases

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:25982755, ECO:0000269 PubMed:9425900, ECO:0000269 PubMed:9872318}. Note=The disease is caused by variants 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}.

Additional Disease Information for KCNQ3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KCNQ3: view

No data available for Genatlas for KCNQ3 Gene

Publications for KCNQ3 Gene

  1. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. (PMID: 9425900) Charlier C … Leppert M (Nature genetics 1998) 2 3 4 72
  2. Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. (PMID: 23360469) Zara F … Minetti C (Epilepsia 2013) 3 4 72
  3. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PMID: 18676988) Nyholt DR … Palotie A (Human molecular genetics 2008) 3 22 40
  4. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. (PMID: 14534157) Singh NA … BFNC Physician Consortium (Brain : a journal of neurology 2003) 3 4 22
  5. Genetic association analysis of KCNQ3 and juvenile myoclonic epilepsy in a South Indian population. (PMID: 12928862) Vijai J … Anand A (Human genetics 2003) 3 40 72

Products for KCNQ3 Gene

Sources for KCNQ3 Gene