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KCNQ3 Gene(Protein Coding)

Potassium Voltage-Gated Channel Subfamily Q Member 3

GCID:
GC08M132120
GIFtS:
55
Genes Participants
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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
  • Potassium Voltage-Gated Channel Subfamily KQT 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 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.

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

Additional gene information for KCNQ3 Gene

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

Genomics for KCNQ3 Gene

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  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for KCNQ3 Gene

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
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
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KCNQ3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KCNQ3 gene promoter:

Genomic Locations for KCNQ3 Gene

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

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 Structure • Gene Density

RefSeq DNA sequence for KCNQ3 Gene

Proteins for KCNQ3 Gene

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  • 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 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};

    Three dimensional structures from OCA and Proteopedia for KCNQ3 Gene

    Alternative splice isoforms for KCNQ3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KCNQ3 Gene

Protein Expression for KCNQ3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KCNQ3 Gene

No Post-translational modifications

Other Protein References for KCNQ3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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:
ProtoNet:

Suggested Antigen Peptide Sequences for KCNQ3 Gene

GenScript: Design optimal peptide antigens:

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

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  2. CRISPR
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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

Gene Ontology (GO) - Molecular Function 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
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 Model Products

Clone Products

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

Gene Ontology (GO) - Cellular Components for KCNQ3 Gene

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 --
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 PharmGKB pathway for KCNQ3 Gene
1 KEGG pathway for KCNQ3 Gene
1 Qiagen pathway for KCNQ3 Gene

Gene Ontology (GO) - Biological Process 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 --
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

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  1. Drug

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

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

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

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

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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

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

Clone 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

Products:

  1. Primer

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

mRNA expression in normal human tissues for KCNQ3 Gene
mRNA expression by BioGPS for KCNQ3 GenemRNA expression by GTEx 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



Protein tissue co-expression partners for KCNQ3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNQ3 Gene:

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(2.5)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
Organs:
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

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 33 34
  • 99.54 (n)
dog
(Canis familiaris)
 Mammalia KCNQ3 33 34
  • 91.54 (n)
cow
(Bos Taurus)
 Mammalia KCNQ3 33 34
  • 90.94 (n)
rat
(Rattus norvegicus)
 Mammalia Kcnq3 33
  • 90.6 (n)
mouse
(Mus musculus)
 Mammalia Kcnq3 33 16 34
  • 90.44 (n)
oppossum
(Monodelphis domestica)
 Mammalia KCNQ3 34
  • 88 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia KCNQ3 34
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves KCNQ3 33 34
  • 79.31 (n)
lizard
(Anolis carolinensis)
 Reptilia KCNQ3 34
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia kcnq3 33
  • 70.98 (n)
zebrafish
(Danio rerio)
 Actinopterygii kcnq3 33 34
  • 68.38 (n)
KCNQ3 (2 of 2) 34
  • 61 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea kqt-1 35
  • 38 (a)
kqt-2 34
  • 19 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 49 (a)
 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)

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 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

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

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

Disorders for KCNQ3 Gene

MalaCards: The human disease database

(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
  • bfns2
benign familial neonatal epilepsy
  • benign familial neonatal seizures
benign familial infantile epilepsy
  • benign familial infantile convulsion
benign neonatal seizures
  • benign familial neonatal seizures
epilepsy, idiopathic generalized 10
  • epilepsy, idiopathic generalized, susceptibility to, 10
- 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
  • 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
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 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
  2. 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
  3. 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
  4. 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
  5. 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

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Sources for KCNQ3 Gene

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