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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNQ3 Gene

protein-coding GIFtS: 68
GCID: GC08M133210

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

(Previous symbol: EBN2)

13 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 benign neonatal epilepsy 2, and myokymia with neonatal epilepsy, and among its related super-pathways are Potassium Channels and Axon guidance. GO annotations related to this gene include delayed rectifier 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NT_008046.16 NC_018919.2

Regulatory elements:

SABiosciences 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 SABiosciences Chromatin IP Primers for KCNQ3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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

Subcellular location: Membrane; Multi-pass membrane protein

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:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_O43525

KCNQ3 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (2 alternative transcripts):

NP_001191753.1 NP_004510.1

ENSEMBL proteins:

ENSP00000373648 ENSP00000429799 ENSP00000428790

Reactome Protein details: O43525
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Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): 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

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

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

5/6 InterPro protein domains (see all 6):

IPR003948 K_chnl_volt-dep_KCNQ3

IPR020969 Ankyrin-G_BS

IPR005821 Ion_trans_dom

IPR003937 K_chnl_volt-dep_KCNQ

IPR003091 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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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 (GO ID links to tree view): 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	homeostasis/metabolism	mortality/aging
nervous system

KCNQ3 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for KCNQ3

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KCNQ3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KCNQ3

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ3

(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section

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	0.42
	Voltage gated Potassium channels	0.43

Axon guidance

	Axon guidance	0.69			L1CAM interactions	0.39
	Developmental Biology	0.69

Transmission across Chemical Synapses

Neuronal System

0.67

Circadian entrainment

Cholinergic synapse

0.37

Synaptic transmission: ion currents

Synaptic transmission: ion currents

Pathways by source See SuperPaths
Show all pathways

2 EMD Millipore Pathways for KCNQ3

	Synaptic transmission- ion currents
	Potassium transporters- outward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNQ3

Dopamine-DARPP32 Feedback onto cAMP Pathway

5/7 Reactome Pathways for KCNQ3 (see all 7)

	L1CAM interactions
	Potassium Channels
	Developmental Biology
	Interaction between L1 and Ankyrins
	Neuronal System

1 PharmGKB Pathway for KCNQ3

Celecoxib Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for KCNQ3):

Cholinergic synapse

KCNQ3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNQ3

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

5/57 Interacting proteins for KCNQ3 (O43525³ ENSP00000373648⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

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): 5/7 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KCNQ3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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)

Search CenterWatch for drugs/clinical trials and news about KCNQ3

(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,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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

24/74 AceView cDNA sequences (see all 74):

AF033347 NM_004519 BX102087 AK095711 Z39292 AL707265 AK094705 BX441434

BF478234 BX506936 Z43216 AL707492 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

5/4 selected tissues (see all 4) fully expand


Blood (Hematopoietic System) fully expand to see all 2 entries
umbilical cord reticulocytes

Neuron (Nervous System)
Human Neuron (HN)

Umbilical Cord (Extraembryonic Tissues)
umbilical cord reticulocytes

Neural Tube (Nervous System)
Telencephalon

See KCNQ3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNQ3

SOURCE GeneReport for Unigene cluster: Hs.374023

UniProtKB/Swiss-Prot: KCNQ3_HUMAN, O43525

Tissue specificity: Predominantly expressed in brain

SABiosciences Expression via Pathway-Focused PCR Array including KCNQ3:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

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(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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for KCNQ3 gene from 6/13 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}	90.47(n)¹ 95.75(a)¹		15 (29.16 cM)⁵ 110862¹ NM_152923.2¹ NP_690887.2¹ 65995171⁵
chicken (Gallus gallus)	Aves	KCNQ3¹	potassium voltage-gated channel, KQT-like subfamily, more	79.31(n) 87.48(a)		420325 XM_003640867.1 XP_003640915.1
lizard (Anolis carolinensis)	Reptilia	KCNQ3⁶	potassium voltage-gated channel, KQT-like subfamil...	78(a)	1 ↔ 1	4(319630-489150)
zebrafish (Danio rerio)	Actinopterygii	kcnq3¹	potassium voltage-gated channel, KQT-like subfamily, more	68.23(n) 72.42(a)		799747 XM_003197933.1 XP_003197981.1
fruit fly (Drosophila melanogaster)	Insecta	KCNQ⁶	KCNQ potassium channel	26(a)	1 → many	2R(6033402-6079899)
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)
About This Section

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 KCNQ2 KCNQ1 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

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) 10/12 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

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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.)
About This Section

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

13 diseases for KCNQ3: About MalaCards

benign neonatal epilepsy 2 myokymia with neonatal epilepsy convulsions benign familial neonatal dominant form benign neonatal seizures

myokymia episodic ataxia epilepsy syndrome juvenile myoclonic epilepsy

long qt syndrome idiopathic generalized epilepsy migraine ataxia

neuronitis

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)
About This Section

PubMed articles for KCNQ3 gene, integrated from 9 sources (see all 108):
(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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (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)
About This Section

Entrez Gene: 3786	HGNC: 6297	AceView: KCNQ3	Ensembl:ENSG00000184156	euGenes: HUgn3786
ECgene: KCNQ3	Kegg: 3786	H-InvDB: KCNQ3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

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/sites/GeneTests/lab/gene/KCNQ3

Intellectual Property for KCNQ3 gene
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Patent Information for KCNQ3 gene:
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GeneCards and IP:
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