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KCNQ3 Gene

protein-coding GIFtS: 67
GCID: GC08M133210

Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member...

(Previous symbol: EBN2)

See related diseases
at

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(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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Aliases
Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 3¹ ²		KV7.3²
EBN2¹ ² ⁵		Potassium Channel, Voltage-Gated, Subfamily Q, Member 3²
Potassium Channel Subunit Alpha KvLQT3² ³		Potassium Voltage-Gated Channel Subfamily KQT Member 3²
Voltage-Gated Potassium Channel Subunit Kv7.3² ³		KQT-Like 3³
BFNC2² ⁵

External Ids:	HGNC: 6297¹	Entrez Gene: 3786²	Ensembl: ENSG00000184156⁷	OMIM: 602232⁵	UniProtKB: O43525³

Export aliases for KCNQ3 gene to outside databases

Previous GC identifers: GC08M131852 GC08M133173 GC08M132813 GC08M133097 GC08M128458

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

The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the

regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this

gene and one of two related proteins encoded by the KCNQ2 and KCNQ5 genes, both integral membrane proteins. M

channel currents are inhibited by M1 muscarinic acetylcholine receptors and 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). Two variants encoding distinct isoforms have been found.

(provided by RefSeq, Mar 2011)

GeneCards Summary for KCNQ3 Gene:

KCNQ3 (potassium voltage-gated channel, KQT-like subfamily, member 3) is a protein-coding gene. Diseases associated with KCNQ3 include seizures, benign neonatal, type 2, and kcnq3-related benign familial neonatal epilepsy. GO annotations related to this gene include voltage-gated potassium channel activity and potassium channel activity. An important paralog of this gene is KCNQ1.

UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525

Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a

potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly

activating and deactivating potassium conductance which plays a critical role in determining the subthreshold

electrical excitability of neurons as well as the responsiveness to synaptic inputs

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 pore-forming alpha-subunits

contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed

within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNQ3 (KvLQT3) 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:

NC_000008.11 NT_008046.17 NC_018919.2

Regulatory elements:

Regulatory transcription factor binding sites in the KCNQ3 gene promoter:
HFH-3 Pax-5 Egr-1 Lmo2 MIF-1 Cdc5 C/EBPalpha Egr-4 STAT3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNQ3 promoter sequence

Search Chromatin IP Primers for KCNQ3

Epigenetics:

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

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q24 Ensembl cytogenetic band: 8q24.22 HGNC cytogenetic band: 8q24

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

GeneLoc information about chromosome 8 GeneLoc Exon Structure

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

Start:	133,133,105 bp from pter	End:	133,493,200 bp from pter
Size:	360,096 bases	Orientation:	minus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525 (See protein sequence)

Recommended Name: Potassium voltage-gated channel subfamily KQT member 3

Size: 872 amino acids; 96742 Da

Subunit: Heteromultimer with KCNQ2 or KCNQ5. May associate with KCNE2

Miscellaneous: Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ3(mut)

and KCNQ2 at the ratio of 1:1, or of KCNQ3(mut), KCNQ3(wt) and KCNQ2 at the ratio of 1:1:2, to mimic the

situation in a heterozygous patient with BFNC2 disease

Secondary accessions: B4DJY4 E7EQ89

Alternative splicing: 2 isoforms: O43525-1 O43525-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KCNQ3: NX_O43525

Explore proteomics data for KCNQ3 at MOPED

Post-translational modifications:

Modification sites at neXtProt

Modification sites at PhosphoSitePlus

See KCNQ3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001191753.1 NP_004510.1

ENSEMBL proteins:

ENSP00000373648 ENSP00000429799 ENSP00000428790

Reactome Protein details: O43525

KCNQ3 Human Recombinant Protein Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:

KCN: Potassium channels

Kv: Voltage-gated ion channels / Potassium channels

IUPHAR Guide to PHARMACOLOGY protein family classification: K_v7.3

Voltage-gated potassium channels

Selected InterPro protein domains (see all 7):

IPR003948 K_chnl_volt-dep_KCNQ3

IPR020969 Ankyrin-G_BS

IPR005821 Ion_trans_dom

IPR003937 K_chnl_volt-dep_KCNQ

IPR028325 VG_K_chnl

Graphical View of Domain Structure for InterPro Entry O43525

ProtoNet protein and cluster: O43525

2 Blocks protein domains:

IPB003948 KCNQ3 voltage-gated potassium channel signature

IPB013821 KCNQ voltage-gated potassium channel

UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525

Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino

acids at every third position (By similarity)

Similarity: Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.3/KCNQ3 sub-subfamily

KCNQ3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: KCNQ3_HUMAN, O43525

Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ2 or KCNQ5 to form a

potassium channel with essentially identical properties to the channel underlying the native M-current, a slowly

activating and deactivating potassium conductance which plays a critical role in determining the subthreshold

electrical excitability of neurons as well as the responsiveness to synaptic inputs

Genatlas biochemistry entry for KCNQ3:

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)

Gene Ontology (GO): 4 molecular function terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005216	ion channel activity	--	--
GO:0005249	voltage-gated potassium channel activity	TAS	9677360
GO:0005251	delayed rectifier potassium channel activity	IBA	--
GO:0005267	potassium channel activity	TAS	9836639

KCNQ3 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for KCNQ3:

Upregulation of Wnt/beta-caten

6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Kcnq3):

behavior/neurological	cellular	growth/size/body	homeostasis/metabolism	mortality/aging
nervous system

KCNQ3 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KCNQ3

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KCNQ3

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		SwitchGear 3'UTR luciferase reporter plasmid: KCNQ3 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ3

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

KCNQ3_HUMAN, O43525: Membrane; Multi-pass membrane protein

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0008076	voltage-gated potassium channel complex	IEA	--
GO:0016020	membrane	--	--
GO:0033268	node of Ranvier	ISS	16525039
GO:0043194	axon initial segment	ISS	16525039

KCNQ3 for ontologies About GeneDecksing

(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 GeneDecks, 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).
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SuperPaths for KCNQ3 About (see all 8)

See pathways by source

SuperPath

Contained pathways About

Potassium Channels

	Potassium Channels	0.43			Potassium transporters outward current	0.41
	Voltage gated Potassium channels	0.43

L1CAM interactions

	Axon guidance	0.63			L1CAM interactions	0.36
	Developmental Biology	0.63

Transmission across Chemical Synapses

Neuronal System

0.68

Circadian entrainment

Cholinergic synapse

0.37

Synaptic transmission ion currents

Synaptic transmission ion currents

Pathways by source See SuperPaths
Show all pathways

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

KCNQ3 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including KCNQ3:

Neuronal Ion Channels in human mouse rat

Interactions:

GeneGlobe Interaction Network for KCNQ3

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for KCNQ3 (O43525³ ENSP00000373648⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 59)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³, ENSP00000349467⁴	I2D: score=6 STRING: ENSP00000349467
CALM2	P62158³	I2D: score=6
CALM3	P62158³	I2D: score=6
KCNQ4	P56696³, ENSP00000262916⁴	I2D: score=1 STRING: ENSP00000262916
KCNQ2	O43526³, ENSP00000352035⁴	I2D: score=2 STRING: ENSP00000352035

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006811	ion transport	--	--
GO:0006813	potassium ion transport	TAS	9677360
GO:0007268	synaptic transmission	TAS	--
GO:0007411	axon guidance	TAS	--
GO:0055085	transmembrane transport	--	--

KCNQ3 for ontologies About GeneDecksing

(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)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Compounds for KCNQ3 available from Tocris Bioscience About this table

Compound	Action	CAS #
ICA 110381	KV7.2/7.3 activator; displays anticonvulsant properties	[325457-99-6]
XE 991 dihydrochloride	Potent, selective KV7 (KCNQ) channel blocker; blocks M-current	[122955-42-4]
JNJ 303	Potent and selective IKs blocker	[878489-28-2]
E-4031 dihydrochloride	KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)	[113559-13-0]
ShK-Dap22	Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro	[220384-25-8]

1 HMDB Compound for KCNQ3 About this table

Compound	Synonyms	CAS #	PubMed Ids
Potassium	K+ (see all 16)	7440-09-7	--

3 DrugBank Compounds for KCNQ3 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Ezogabine	D-23129 (see all 5)	150812-12-7	target	--	17456683 17184917 10908292 10953053
Diclofenac	Diclofenac Acid (see all 4)	15307-86-5	target	other	15598972 18206251
Meclofenamic acid	Acide meclofenamique [INN-French] (see all 6)	644-62-2	target	other	15598972

4 IUPHAR Ligands for KCNQ3 (K_v7.3) About this table

Ligand	Type	Action	Affinity	Pubmed IDs
retigabine	Activator	None	6.2	11466425
PIP₂	Activator	None	5.6	16251430
tetraethylammonium	Pore Blocker	None	1.5	10711337
linopirdine	Inhibitor	None	1.5	--

4 Novoseek inferred chemical compound relationships for KCNQ3 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
potassium	74.5	31	19167866 (2), 10446744 (1), 10996506 (1), 11579434 (1) (see all 24)
tetraethylammonium	29.1	1	10684873 (1)
sodium	18.9	2	19464834 (1), 16038283 (1)
acetylcholine	0	1	17008177 (1)

KCNQ3 for compounds About GeneDecksing

(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,
Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KCNQ3 gene (2 alternative transcripts):

NM_001204824.1 NM_004519.3

Unigene Cluster for KCNQ3:

Potassium voltage-gated channel, KQT-like subfamily, member 3

Hs.374023 [show with all ESTs]

Unigene Representative Sequence: NM_004519

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000388996(uc003yti.3 uc003ytj.3 uc010mdt.3) ENST00000521134

ENST00000519445 ENST00000519589

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Additional mRNA sequence:

AF033347.1 AK094705.1 AK095711.1 AK296293.1 BC128576.1 BX538233.1 BX538295.1

8 DOTS entries:

DT.97770198 DT.211817 DT.120630292 DT.121472710 DT.207846 DT.95232233 DT.120630310 DT.121472728

Selected AceView cDNA sequences (see all 74):

AF033347 NM_004519 BX102087 AK095711 Z39292 AL707265 AK094705 BX441434

Z43216 AL707492 BF478234 BX506936 AL707270 BF000056 AL701655 AI355924

BX538295 AI124734 BE894188 BX538233 BX409804 AI278419 BX409805 CK005312

GeneLoc Exon Structure

(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 GeneDecks, 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) KCNQ3 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: AATCCATTAT

About this image

KCNQ3 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database


Neural Tube (Nervous System)
Telencephalon

KCNQ3 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

KCNQ3 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.374023

UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525

Tissue specificity: Predominantly expressed in brain

Pathway & Disease-focused RT² Profiler PCR Array including KCNQ3:

Neuronal Ion Channels in human mouse rat

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat KCNQ3
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ3

(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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This gene was present in the common ancestor of animals.

Orthologs for KCNQ3 gene from Selected species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Kcnq3^{1 , 5}	potassium voltage-gated channel, subfamily Q, member more^{1, 5}	90.44(n)¹ 95.92(a)¹		15 (29.16 cM)⁵ 110862¹ NM_152923.2¹ NP_690887.2¹ 65986387⁵
chicken (Gallus gallus)	Aves	KCNQ3¹	potassium voltage-gated channel, KQT-like subfamily, more	79.31(n) 87.48(a)		420325 XM_003640867.2 XP_003640915.2
lizard (Anolis carolinensis)	Reptilia	KCNQ3⁶	potassium voltage-gated channel, KQT-like subfamil...	79(a)	1 ↔ 1	4(319630-489150)
tropical clawed frog (Xenopus tropicalis)	Amphibia	kcnq3¹	potassium voltage-gated channel, KQT-like subfamily, more	70.98(n) 77.53(a)		101731597 XM_004915046.1 XP_004915103.1
zebrafish (Danio rerio)	Actinopterygii	kcnq3¹	potassium voltage-gated channel, KQT-like subfamily, more	68.38(n) 72.84(a)		799747 XM_003197933.2 XP_003197981.1
worm (Caenorhabditis elegans)	Secernentea	kqt-1³	voltage-gated potassium channel	38(a)		X(6655345-6662969) --

ENSEMBL Gene Tree for KCNQ3 (if available)
TreeFam Gene Tree for KCNQ3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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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

KCNQ3 for paralogs About GeneDecksing

(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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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
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	--	--	--	--
rs2303995^1,2,,4	C,F	non-pathogenic¹	133449420(+)	`GCTGTT/CCTTTC`	4	/E /G	mis¹		8		NS EA NA EU	6525
rs118192254^1,2	C	pathogenic¹	133415352(-)	`CCCCAA/GTGGGG`	4	N S	mis¹		1		NA	4550
rs74582884^1,2	C,F	pathogenic¹	133420303(+)	`TCCAGG/AGGTGA`	4	/P /S	mis¹		3		NA EU	5965
rs118192252^1,2,,4	C	pathogenic¹	133427125(-)	`AAACAA/GTAAAG`	4	N S	mis¹		0	--	--	--	--
rs118192250^1,2	C	pathogenic¹	133461388(-)	`GTGGGG/TCCTGG`	4	G V	mis¹		0	--	--	--	--
rs2469624^1,2	A	--	128459872(-)	`AAAACC/AAAAAA`	2	--	int¹ trp³		1		NA	2
rs3837191^1,2	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

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602232
OMIM disorders: 121201
UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525

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

Selected diseases for KCNQ3 (see all 24): About MalaCards

seizures, benign neonatal, type 2 kcnq3-related benign familial neonatal epilepsy myokymia with neonatal epilepsy kcnq2-related disorders

seizures, benign neonatal, 1 convulsions benign familial neonatal dominant form benign neonatal seizures myokymia

epilepsy, juvenile myoclonic 8 benign familial infantile seizures 2 speech disorder episodic ataxia

epilepsy syndrome juvenile myoclonic epilepsy long qt syndrome idiopathic generalized epilepsy

myoclonus was-related disorders brain disease migraine

4 diseases from the University of Copenhagen DISEASES database for KCNQ3:

Brain disease Long QT syndrome Episodic ataxia Speech disorder

KCNQ3 for disorders About GeneDecksing

7 Novoseek inferred disease relationships for KCNQ3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
familial benign neonatal convulsions	98.6	20	10852552 (2), 9827540 (1), 10446744 (1), 11579434 (1) (see all 18)
neonatal convulsions benign	90.1	2	10884071 (1), 18625963 (1)
epilepsy, idiopathic generalized	84.1	4	10996506 (1), 19464834 (1), 9677360 (1), 10941184 (1)
epilepsy frontal lobe	78.3	3	11579434 (1), 11888238 (1), 15264690 (1)
epilepsy	74.2	15	19464834 (2), 18625963 (2), 9827540 (1), 10996506 (1) (see all 11)
epilepsy generalized	72.9	1	11784811 (1)
seizures febrile	72.4	1	19853223 (1)

Genetic Association Database (GAD): KCNQ3
Human Genome Epidemiology (HuGE) Navigator: KCNQ3 (8 documents)

Export disorders for KCNQ3 gene to outside databases

(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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PubMed articles for KCNQ3 gene, integrated from 10 sources (see all 110):
(articles sorted by number of sources associating them with KCNQ3)

Utopia: connect your pdf to the dynamic
world of online information

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)
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)
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)
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)
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)
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)
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)
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)
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)
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)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3786	HGNC: 6297	AceView: KCNQ3	Ensembl:ENSG00000184156	euGenes: HUgn3786
ECgene: KCNQ3	Kegg: 3786	H-InvDB: KCNQ3

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KCNQ3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for KCNQ3	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KCNQ3[genesymbol]

Intellectual Property for KCNQ3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for KCNQ3 gene:
Search GeneIP for patents involving KCNQ3

GeneCards and IP:
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KCNQ3 Gene

Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member...

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KCNQ3 Gene

Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member...

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