KCNQ3 Gene

Aliases
for KCNQ3 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC08M131852 GC08M133173 GC08M132813 GC08M133097 GC08M128458

Summaries
for KCNQ3 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for KCNQ3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000008.10  NT_008046.17  NC_018919.2  

SwitchGear Promoter luciferase reporter plasmid: KCNQ3 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNQ3

KCNQ3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M133210:  view genomic region     (about GC identifiers)

Proteins
for KCNQ3 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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Explore the universe of human proteins at neXtProt for KCNQ3: NX_O43525

Explore proteomics data for KCNQ3 at MOPED

Post-translational modifications: 

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Domains /
Families
for KCNQ3 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: O43525

Find genes that share domains with KCNQ3           About GenesLikeMe

Function
for KCNQ3 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 4 molecular function terms:    About this table

(inferred from 2 alleles) (MGI details for Kcnq3)

genOway: Develop your customized and physiologically relevant rodent model for KCNQ3

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		hsa-miR-124* hsa-miR-579 hsa-miR-323-3p hsa-miR-607 hsa-miR-300 hsa-miR-219-5p hsa-miR-138-2* hsa-miR-3916
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Gene Editing Products:

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ3

Flow Cytometry Products:

eBioscience FlowRNA Probe Sets ( VA1-11418) for KCNQ3

Localization
for KCNQ3 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
plasma membrane	4
nucleus	3
mitochondrion	1

About this image

Gene Ontology (GO): 5 cellular component terms:    About this table

Pathways & Interactions
for KCNQ3 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for KCNQ3 About   (see all 7)   See pathways by source

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	SuperPath	Contained pathways About
1	L1CAM interactions	Axon guidance 0.63 L1CAM interactions 0.36 Developmental Biology 0.63
2	Potassium Channels	Potassium Channels 0.43 Voltage gated Potassium channels 0.43
3	Transmission across Chemical Synapses	Neuronal System 0.68
4	Circadian entrainment	Cholinergic synapse 0.37
5	Interaction between L1 and Ankyrins	Interaction between L1 and Ankyrins

1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for KCNQ3

Dopamine-DARPP32 Feedback onto cAMP Pathway

2 Reactome Pathways for KCNQ3

	Interaction between L1 and Ankyrins
	Voltage gated Potassium channels

1 PharmGKB Pathway for KCNQ3

Celecoxib Pathway, Pharmacodynamics

1 Kegg Pathway  (Kegg details for KCNQ3)

Cholinergic synapse

Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

Drugs & Compounds
for KCNQ3 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for KCNQ3 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for KCNQ3 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KCNQ3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATCCATTAT

About this image

Neural Tube (Nervous System)
Telencephalon

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ3

Orthologs
for KCNQ3 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for KCNQ3 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for KCNQ3 gene

KCNQ1²  KCNQ2²  KCNQ5²  KCNQ4²  

5 SIMAP similar genes for KCNQ3 using alignment to 3 protein entries:     KCNQ3_HUMAN (see all proteins):

KCNQ4    KCNQ5    KCNQ1    KCNQ2    KCNN4

Find genes that share paralogs with KCNQ3           About GenesLikeMe

Genomic Variants
for KCNQ3 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for KCNQ3 (see all 7459)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
VAR_0269944		Seizures, benign familial neonatal 2 (BFNS2)4	--	see VAR_026994	2	D G	mis4		0	--	--	--	--
VAR_0015464		Seizures, benign familial neonatal 2 (BFNS2)4	--	see VAR_001546	2	G V	mis4		0	--	--	--	--
VAR_0109354		Seizures, benign familial neonatal 2 (BFNS2)4	--	see VAR_010935	2	W R	mis4		0	--	--	--	--
rs23039951,2,,4	C,F	non-pathogenic1	133449420(+)	GCTGTT/CCTTTC	4	/E /G	mis1		8		NS EA NA EU	6525
rs1181922541,2	C	pathogenic1	133415352(-)	CCCCAA/GTGGGG	4	N S	mis1		1		NA	4550
rs745828841,2	C,F	pathogenic1	133420303(+)	TCCAGG/AGGTGA	4	/P /S	mis1		3		NA EU	5965
rs1181922521,2,,4	C	pathogenic1	133427125(-)	AAACAA/GTAAAG	4	N S	mis1		0	--	--	--	--
rs1181922501,2	C	pathogenic1	133461388(-)	GTGGGG/TCCTGG	4	G V	mis1		0	--	--	--	--
rs24696241,2	A	--	128459872(-)	AAAACC/AAAAAA	2	--	int1 trp3		1		NA	2
rs38371911,2	C	--	128462451(-)	ACCCCC/-TTCTC	2	--	int1 trp3		1		CSA	2

HapMap Linkage Disequilibrium report for KCNQ3 (133133105 - 133383105 bp, first 250kb of KCNQ3)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for KCNQ3 (see all 12):    About this table    

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

Human Gene Mutation Database (HGMD): KCNQ3

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing KCNQ3

DNA2.0 Custom Variant and Variant Library Synthesis for KCNQ3

Disorders / Diseases
for KCNQ3 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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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. Note=The disease is caused by mutations affecting the gene represented in this entry

8 diseases for KCNQ3:    
About MalaCards

7 Novoseek inferred disease relationships for KCNQ3 gene    About this table

Publications
for KCNQ3 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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1. Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine. (PubMed id 10908292)^{1, 2, 7} Main M.J.... Burbidge S.A. (Mol. Pharmacol. 2000)
2. Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels. (PubMed id 10953053)^{1, 2, 7} Wickenden A.D.... Wagoner P.K. (Mol. Pharmacol. 2000)
3. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. (PubMed id 9425900)^{1, 2, 3} Charlier C....Leppert M. (Nat. Genet. 1998)
4. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. (PubMed id 9677360)^{1, 2, 9} Yang W.-P.... Blanar M.A. (J. Biol. Chem. 1998)
5. Surface expression and single channel properties of KCNQ2/KCNQ3, M- type K+ channels involved in epilepsy. (PubMed id 10788442)^{1, 2, 9} Schwake M.... Jentsch T.J. (J. Biol. Chem. 2000)
6. A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions. (PubMed id 10852552)^{1, 2, 9} Hirose S.... Mitsudome A. (Ann. Neurol. 2000)
7. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. (PubMed id 14534157)^{1, 2, 9} Singh N.A.... Leppert M.F. (Brain 2003)
8. Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current. (PubMed id 10684873)^{1, 2, 9} Shapiro M.S....Hille B. (J. Neurosci. 2000)
9. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. (PubMed id 9872318)^{1, 2, 9} Schroeder B.C.... Jentsch T.J. (Nature 1998)
10. A high-density association screen of 155 ion transport genes for involvement with common migraine. (PubMed id 18676988)^{1, 4, 9} Nyholt D.R....Palotie A. (Hum. Mol. Genet. 2008)

External Searches for KCNQ3 gene

Genome Databases showing KCNQ3 gene

Other Databases showing KCNQ3 gene

Specialized Databases showing KCNQ3 gene

Products
for KCNQ3 gene

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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