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
- 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
External Ids for KCNQ3 Gene
- HGNC: 6297
- Entrez Gene: 3786
- Ensembl: ENSG00000184156
- OMIM: 602232
- UniProtKB: O43525
Previous HGNC Symbols for KCNQ3 Gene
- EBN2
Previous GeneCards Identifiers for KCNQ3 Gene
- GC08M131852
- GC08M133173
- GC08M132813
- GC08M133097
- GC08M133210
- GC08M128458
Summaries 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 L1CAM interactions and Circadian entrainment. 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 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.
-
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.
Additional gene information for KCNQ3 Gene
- Monarch Initiative
- Search for KCNQ3 at DataMed
- Search for KCNQ3 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ3 Gene
Genomics for KCNQ3 Gene
GeneHancer (GH) Regulatory Elements 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 |
---|---|---|---|---|---|---|---|---|---|---|
GH08I132480 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 563.1 | +0.2 | 218 | 0.8 | ZNF335 ZFHX2 SUZ12 SIN3A FOXP2 EZH2 EGR2 | KCNQ3 GC08M132265 | |
GH08I132318 | Enhancer | 0.5 | FANTOM5 ENCODE | 8 | +161.4 | 161418 | 2.2 | ZMYM3 | KCNQ3 HHLA1 GC08M132265 GC08P132227 | |
GH08I132262 | Enhancer | 0.2 | FANTOM5 | 8.7 | +218.4 | 218373 | 0 | KCNQ3 HHLA1 GC08P132227 GC08M132265 | ||
GH08I132549 | Enhancer | 0.4 | FANTOM5 | 2.4 | -68.9 | -68937 | 0.3 | ZNF512 | HHLA1 KCNQ3 HPYR1 LOC105375765 | |
GH08I131923 | Enhancer | 0.2 | Ensembl | 4.7 | +557.0 | 557018 | 0.4 | KCNQ3 EFR3A GC08P131997 |
Regulatory Element Products
Genomic Locations for KCNQ3 Gene
- chr8:132,120,858-132,481,019
- (GRCh38/hg38)
- Size:
- 360,162 bases
- Orientation:
- Minus strand
- chr8:133,133,105-133,493,200
- (GRCh37/hg19)
Genomic View for KCNQ3 Gene
- Cytogenetic band:
-
- 8q24.22 by Ensembl
- 8q24.22 by Entrez Gene
- 8q24.22 by HGNC


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
- 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 to 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=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAI28577.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};
Protein Expression for KCNQ3 Gene
Post-translational modifications for KCNQ3 Gene
Other Protein References for KCNQ3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for KCNQ3
- Novus Biologicals Antibodies for KCNQ3
-
Abcam antibodies for KCNQ3
- Invitrogen Antibodies for KCNQ3
- GeneTex KCNQ3 antibody for KCNQ3
Protein Products
-
OriGene Purified Proteins for KCNQ3
- Search Origene for MassSpec and Protein Over-expression Lysates for KCNQ3
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- Novus Biologicals lysates for KCNQ3
- Search GeneTex for Proteins for KCNQ3
Assay Products
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
Suggested Antigen Peptide Sequences for KCNQ3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O43525UniProtKB/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.
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:
- 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.
Phenotypes From GWAS Catalog for KCNQ3 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005244 | voltage-gated ion channel activity | IEA | -- |
GO:0005249 | voltage-gated potassium channel activity | IDA,IEA | 11159685 |
GO:0005267 | potassium channel activity | IEA | -- |
GO:0005515 | protein binding | IPI | 27564677 |
GO:0005516 | calmodulin binding | IDA | 27564677 |
Phenotypes for KCNQ3 Gene
- MGI mutant phenotypes for KCNQ3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for KCNQ3:
Animal Models for KCNQ3 Gene
- MGI Knock Outs for KCNQ3:
-
- Kcnq3 tm1Dgen
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KCNQ3
-
-
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-
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- Search ViGene Biosciences for KCNQ3
CRISPR Products
-
OriGene CRISPR knockouts for KCNQ3
- genomics-online: gRNA clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
- Applied Biological Materials CRISPR for KCNQ3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNQ3
- GenScript: Design CRISPR guide RNA sequences for KCNQ3
miRNA for KCNQ3 Gene
- miRTarBase miRNAs that target KCNQ3
-
- hsa-mir-574-5p (MIRT623496)
- hsa-mir-4455 (MIRT623497)
- hsa-mir-629-3p (MIRT623498)
- hsa-mir-4713-5p (MIRT623499)
- hsa-mir-6867-5p (MIRT623500)
- hsa-mir-6752-3p (MIRT623501)
- hsa-mir-192-3p (MIRT625636)
- hsa-mir-6867-3p (MIRT625637)
- hsa-mir-4685-3p (MIRT625638)
- hsa-mir-4287 (MIRT625639)
- hsa-mir-7113-3p (MIRT625640)
- hsa-mir-4469 (MIRT625641)
- hsa-mir-6727-3p (MIRT625642)
- hsa-mir-4722-3p (MIRT625643)
- hsa-mir-4760-3p (MIRT625644)
- hsa-mir-223-5p (MIRT784269)
- hsa-mir-297 (MIRT784383)
- hsa-mir-511-3p (MIRT787109)
- hsa-mir-567 (MIRT787718)
miRNA Products
- Search ViGene Biosciences for KCNQ3
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNQ3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for KCNQ3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNQ3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for KCNQ3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KCNQ3
-
ViGene Biosciences adenoviral particle packaged cDNA for KCNQ3 gene
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ViGene Biosciences lentiviral particle packaged cDNA for KCNQ3 gene
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ViGene Biosciences ready-to-package AAV shRNAs for KCNQ3 gene
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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | ISS,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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KCNQ3 Gene
Pathways & Interactions for KCNQ3 Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Developmental Biology |
.51
|
|
2 | Potassium Channels | ||
3 | Circadian entrainment | ||
4 | Celecoxib Pathway, Pharmacodynamics | ||
5 | Dopamine-DARPP32 Feedback onto cAMP Pathway |
Pathways by source for KCNQ3 Gene
7 Reactome pathways for KCNQ3 Gene
1 PharmGKB pathway for KCNQ3 Gene
1 KEGG pathway for KCNQ3 Gene
1 Qiagen pathway for KCNQ3 Gene
Interacting Proteins for KCNQ3 Gene
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006810 | transport | IEA | -- |
GO:0006811 | ion transport | IEA | -- |
GO:0006813 | potassium ion transport | IEA | -- |
GO:0007268 | chemical synaptic transmission | TAS | 9425900 |
GO:0034765 | regulation of ion transmembrane transport | IEA | -- |
No data available for SIGNOR curated interactions for KCNQ3 Gene
Drugs & Compounds for KCNQ3 Gene
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Ezogabine | Approved, Investigational | Pharma | Activator, Target, activator | Activator of voltage-gated potassium channel, an anticonvulsant agent | 28 | |
Potassium | Approved, Investigational | Pharma | 0 | |||
Amitriptyline | Approved | Pharma | Antagonist, Target | 113 | ||
Diclofenac | Approved, Vet_approved | Pharma | Channel blocker, Target, other | 340 | ||
Meclofenamic acid | Approved, Vet_approved | Pharma | Target, other | 2 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
4'-Hydroxydiclofenac |
|
64118-84-9 |
(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 |
Transcripts for KCNQ3 Gene
mRNA/cDNA for KCNQ3 Gene
- (6) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (74) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for KCNQ3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for KCNQ3
- genomics-online: gRNA clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
- Applied Biological Materials CRISPR for KCNQ3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KCNQ3
- GenScript: Design CRISPR guide RNA sequences for KCNQ3
miRNA Products
- Search ViGene Biosciences for KCNQ3
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KCNQ3
- Browse OriGene Inhibitory RNA Products For KCNQ3
- genomics-online: shRNA clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KCNQ3 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for KCNQ3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNQ3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for KCNQ3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for KCNQ3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
mRNA differential expression in normal tissues according to GTEx for KCNQ3 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNQ3 Gene
NURSA nuclear receptor signaling pathways regulating expression of KCNQ3 Gene:
KCNQ3SOURCE GeneReport for Unigene cluster for KCNQ3 Gene:
Hs.374023mRNA Expression by UniProt/SwissProt for KCNQ3 Gene:
O43525-KCNQ3_HUMANEvidence on tissue expression from TISSUES for KCNQ3 Gene
- Nervous system(4.9)
- Heart(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNQ3 Gene
- ectoderm
- mesoderm
- integumentary
- nervous
- skeletal muscle
- brain
- eye
- head
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for KCNQ3
- genomics-online: primer clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
Orthologs for KCNQ3 Gene
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | KCNQ3 33 34 |
|
||
dog (Canis familiaris) |
Mammalia | KCNQ3 33 34 |
|
||
cow (Bos Taurus) |
Mammalia | KCNQ3 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Kcnq3 33 |
|
||
mouse (Mus musculus) |
Mammalia | Kcnq3 33 16 34 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | KCNQ3 34 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | KCNQ3 34 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | KCNQ3 33 34 |
|
||
lizard (Anolis carolinensis) |
Reptilia | KCNQ3 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | kcnq3 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | kcnq3 33 34 |
|
||
KCNQ3 (2 of 2) 34 |
|
OneToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | kqt-1 35 |
|
|
|
kqt-2 34 |
|
OneToMany | |||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for KCNQ3 was found in the sources mined by GeneCards:
-
- 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)
Paralogs for KCNQ3 Gene
Variants for KCNQ3 Gene
SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs10095295 | benign, Benign familial neonatal seizures, Benign Neonatal Epilepsy | 132,122,980(-) | T/A | 3_prime_UTR_variant | |
rs10108362 | benign, Benign Neonatal Epilepsy, Benign familial neonatal seizures | 132,123,024(-) | A/G | 3_prime_UTR_variant | |
rs1025436 | benign, Benign Neonatal Epilepsy, Benign familial neonatal seizures | 132,125,665(-) | C/T | 3_prime_UTR_variant | |
rs1031468723 | uncertain-significance, Benign familial neonatal seizures, Benign Neonatal Epilepsy | 132,125,254(-) | C/T | 3_prime_UTR_variant | |
rs1042359506 | uncertain-significance, Benign familial neonatal seizures, Benign Neonatal Epilepsy | 132,128,504(-) | TGTATGT/TGT | 3_prime_UTR_variant |
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 |
Additional Variant Information for KCNQ3 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ3 Gene
Disorders for KCNQ3 Gene

(16) MalaCards diseases for KCNQ3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
---|---|---|
seizures, benign familial neonatal, 2 |
|
|
benign familial neonatal epilepsy |
|
|
benign familial infantile epilepsy |
|
|
benign neonatal seizures |
|
|
epilepsy, idiopathic generalized 10 |
|
|
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:25982755, ECO:0000269 PubMed:9425900, ECO:0000269 PubMed:9872318}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for KCNQ3
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for KCNQ3 Gene
Publications for KCNQ3 Gene
- 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 44 58
- 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 58
- Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current. (PMID: 10684873) Shapiro MS … Hille B (The Journal of neuroscience : the official journal of the Society for Neuroscience 2000) 3 4 22 58
- Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy. (PMID: 10788442) Schwake M … Jentsch TJ (The Journal of biological chemistry 2000) 3 4 22 58
- A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. (PMID: 10852552) Hirose S … Mitsudome A (Annals of neurology 2000) 3 4 22 58
Products for KCNQ3 Gene
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- Browse Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for KCNQ3
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- OriGene Purified Proteins for KCNQ3
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- GenScript: Next-day shipping of latest version cDNA ORF clones for KCNQ3 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for KCNQ3
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- GenScript Custom overexpressing Cell Line Services for KCNQ3
- GenScript: Design CRISPR guide RNA sequences for KCNQ3
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
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- Cloud-Clone Corp. disease models service
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- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for KCNQ3
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Cyagen custom Knockout/knockin (KOKI) mouse models for KCNQ3
- VectorBuilder custom plasmid, inducible vectors for KCNQ3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KCNQ3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 52 available KCNQ3 Antibodies ranked by validation data
- Compare Top KCNQ3 Antibodies
- antibodies-online: Search results for available KCNQ3 related products ranked by validation data
- antibodies-online: Search results for available KCNQ3 related products ranked by validation data
- GeneTex KCNQ3 antibody for KCNQ3
- Search GeneTex for Proteins for KCNQ3
- ViGene Biosciences adenoviral particle packaged cDNA for KCNQ3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for KCNQ3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for KCNQ3 gene
- Search ViGene Biosciences for KCNQ3
- Horizon Cell Lines for KCNQ3
- genomics-online: cdna clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
- orf clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
- genomics-online: gRNA clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
- genomics-online: primer clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
- genomics-online: shRNA clones - Search results for 74 available KCNQ3 gene related products
- Overview of 74 available KCNQ3 gene related products
Sources for KCNQ3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew