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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KCNQ2 Gene

protein-coding GIFtS: 67
GCID: GC20M062038

potassium voltage-gated channel, KQT-like subfamily, member...

(Previous symbols: EBN, EBN1)

Explore 24 diseases affiliated with
KCNQ2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 2¹ ²		KQT-Like 2² ³
EBN1¹ ² ⁵		BFNS1² ⁵
BFNC¹ ²		EIEE7² ⁵
EBN¹ ²		Kv7.2¹
ENB1¹ ²		KV7.2²
HNSPC¹ ²		KVEBN1²
KCNA11¹ ²		Neuroblastoma-Specific Potassium Channel Protein²
Neuroblastoma-Specific Potassium Channel Subunit Alpha KvLQT2² ³		Potassium Voltage-Gated Channel Subfamily KQT Member 2²
Voltage-Gated Potassium Channel Subunit Kv7.2² ³

External Ids:	HGNC: 6296¹	Entrez Gene: 3785²	Ensembl: ENSG00000075043⁷	OMIM: 602235⁵	UniProtKB: O43526³

Export aliases for KCNQ2 gene to outside databases

Previous GC identifers: GC20M061909 GC20M062710 GC20M062757 GC20M062756 GC20M061502 GC20M058763

(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 KCNQ2:

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 a related

protein encoded by the KCNQ3 gene, 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 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least

five transcript variants encoding five different isoforms have been found for this gene. (provided by RefSeq, Jul

2008)

UniProtKB/Swiss-Prot: KCNQ2_HUMAN, O43526

Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ3 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. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991,

and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3

current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors

summary for KCNQ2:

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 KCNQ2 (KvLQT2)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000020.10 NC_018931.1 NT_011333.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KCNQ2 gene promoter:
NRSF form 1 NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KCNQ2 promoter sequence

Search SABiosciences Chromatin IP Primers for KCNQ2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNQ2

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

Entrez Gene cytogenetic band: 20q13.3 Ensembl cytogenetic band: 20q13.33 HGNC cytogenetic band: 20q13.33

KCNQ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNQ2 gene location

GeneLoc information about chromosome 20 GeneLoc Exon Structure

GeneLoc location for GC20M062038: view genomic region (about GC identifiers)

Start:	62,037,542 bp from pter	End:	62,103,993 bp from pter
Size:	66,452 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: KCNQ2_HUMAN, O43526 (See protein sequence)

Recommended Name: Potassium voltage-gated channel subfamily KQT member 2

Size: 872 amino acids; 95848 Da

Subunit: Heteromultimer with KCNQ3. May associate with KCNE2

Subcellular location: Membrane; Multi-pass membrane protein

Miscellaneous: Inclusion of isoform 6 in heteromultimers results in attenuation of potassium current. Prominent

expression of isoform 6 in the developing brain may alter firing repertoires of immature neurons excitability to

provide cues for proliferation rather than differentiation

Miscellaneous: Mutagenesis experiments were carried out in Xenopus oocytes by coexpression of either KCNQ2(mut) and

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

heterozygous patient with BFNC1 disease

Secondary accessions: O43796 O75580 O95845 Q4VXP4 Q4VXR6 Q5VYT8 Q96J59 Q99454

Alternative splicing: 6 isoforms: O43526-1 O43526-2 O43526-3 O43526-4 O43526-5 O43526-6 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for KCNQ2: NX_O43526

Post-translational modifications:

In Xenopus oocytes KCNQ2/KCNQ3 heteromeric current can be increased by intracellular cyclic AMP, an effect that depends

on phosphorylation of Ser-52 in the N-terminus region¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O43526

KCNQ2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (5 alternative transcripts):

NP_004509.2 NP_742104.1 NP_742105.1 NP_742106.1 NP_742107.1

ENSEMBL proteins:

ENSP00000349789 ENSP00000352035 ENSP00000359246 ENSP00000353668 ENSP00000339611

ENSP00000359244 ENSP00000359242 ENSP00000359241 ENSP00000345523 ENSP00000346601

ENSP00000352718 ENSP00000399612

Reactome Protein details: O43526
Human Recombinant Protein Products:

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	Uscn Proteins for KCNQ2

Gene Ontology (GO): 4 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:0033268	node of Ranvier	ISS	16525039
GO:0043194	axon initial segment	ISS	16525039

KCNQ2 for ontologies About GeneDecksing

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for KCNQ2

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

KCNQ2 for domains About GeneDecksing

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

IPR003947 K_chnl_volt-dep_KCNQ2

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 O43526

ProtoNet protein and cluster: O43526

2 Blocks protein families:

IPB003947 KCNQ2 voltage-gated potassium channel signature

IPB013821 KCNQ voltage-gated potassium channel

UniProtKB/Swiss-Prot: KCNQ2_HUMAN, O43526

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. Kv7.2/KCNQ2 sub-subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: KCNQ2_HUMAN, O43526

Function: Probably important in the regulation of neuronal excitability. Associates with KCNQ3 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. KCNQ2/KCNQ3 current is blocked by linopirdine and XE991,

and activated by the anticonvulsant retigabine. Muscarinic agonist oxotremorine-M strongly suppress KCNQ2/KCNQ3

current in cells in which cloned KCNQ2/KCNQ3 channels were coexpressed with M1 muscarinic receptors

Genatlas biochemistry entry for KCNQ2:

potassium voltage-gated channel gene,KQT subfamily,widely expressed,coassembling with KCNQ3 to contribute

M-channel,with four alternatively spliced isoforms,localized in central nervous system (hyppocampus,neocortex and

cerebellar cortex)

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNQ2

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:0005249	voltage-gated potassium channel activity	TAS	9677360
GO:0005251	delayed rectifier potassium channel activity	IBA	--
GO:0005267	potassium channel activity	TAS	9430594
GO:0030506	ankyrin binding	IPI	16525039

KCNQ2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Kcnq2^tm1Hsa for KCNQ2
     6 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Kcnq2):

behavior/neurological	growth/size	mortality/aging	nervous system	reproductive system
respiratory system

KCNQ2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Potassium Channels

	Potassium Channels	1.00			Potassium transporters: outward current	0.42
	Voltage gated Potassium channels	0.43

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69

Interaction between L1 and Ankyrins

Interaction between L1 and Ankyrins

1.00

Celecoxib Pathway, Pharmacodynamics

Celecoxib Pathway, Pharmacodynamics

1.00

Synaptic transmission: ion currents

Synaptic transmission: ion currents

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for KCNQ2

	Synaptic transmission- ion currents
	Potassium transporters- outward current

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for KCNQ2

Dopamine-DARPP32 Feedback onto cAMP Pathway

5/7 Reactome Pathways for KCNQ2 (see all 7)

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

1 PharmGKB Pathway for KCNQ2

Celecoxib Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for KCNQ2):

Cholinergic synapse

KCNQ2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KCNQ2

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

5/62 Interacting proteins for KCNQ2 (O43526^{2, 3} ENSP00000352035⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 62)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARIH2	O95376²^,³	MINT-63297 I2D: score=4
CALM1	P62158³, ENSP00000349467⁴	I2D: score=5 STRING: ENSP00000349467
CALM2	P62158³, ENSP00000272298⁴	I2D: score=5 STRING: ENSP00000272298
CALM3	P62158³, ENSP00000291295⁴	I2D: score=5 STRING: ENSP00000291295
KCNQ3	O43525³, ENSP00000373648⁴	I2D: score=2 STRING: ENSP00000373648

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006813	potassium ion transport	TAS	9677360
GO:0007268	synaptic transmission	TAS	--
GO:0007399	nervous system development	TAS	9425895
GO:0007411	axon guidance	TAS	--
GO:0071805	potassium ion transmembrane transport	--	--

KCNQ2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KCNQ2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for KCNQ2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Linopirdine dihydrochloride	KCNQ channel blocker	[105431-72-9]
AM 92016 hydrochloride	KV channel blocker	[178894-81-0]
XE 991 dihydrochloride	Potent, selective KCNQ channel blocker; blocks M-current	[122955-42-4]
KN-93	CaM kinase II inhibitor. Also K+ channel blocker (KV)	[139298-40-1]
4-Aminopyridine	Non-selective KV channel blocker	[504-24-5]

1 HMDB Compound for KCNQ2 About this table

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

2 DrugBank Compounds for KCNQ2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Diclofenac	Diclofenac Acid (see all 4)	15307-86-5	target	other	15598972 18206251
Amitriptyline	Amitriprolidine (see all 7)	50-48-6	target	inhibitor	17456683

7 Novoseek chemical compound relationships for KCNQ2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retigabine	89.8	7	10908292 (2), 15901787 (2)
potassium	77.7	36	12871719 (2), 9425895 (2), 9430594 (2), 15249611 (2) (see all 29)
linopirdine	76.3	1	19298256 (1)
valine	15.6	2	17044971 (1), 17475800 (1)
acetylcholine	4.03	2	15068253 (1), 17008177 (1)
sodium	0	2	15068253 (1), 19464834 (1)
histamine	0	1	12147327 (1)

Search CenterWatch for drugs/clinical trials and news about KCNQ2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KCNQ2 gene (5 alternative transcripts):

NM_004518.4 NM_172106.1 NM_172107.2 NM_172108.3 NM_172109.1

Unigene Clusters for KCNQ2:

Potassium voltage-gated channel, KQT-like subfamily, member 2

Hs.161851 [show with all ESTs], Hs.652468 [show with all ESTs]

Unigene Representative Sequences: NM_172107, BC020384

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

ENST00000357249(uc002yfa.1 uc002yfb.1) ENST00000359125(uc002yey.1)

ENST00000370226 ENST00000360480 ENST00000344462 ENST00000370224 ENST00000370222

ENST00000370221(uc011aax.1) ENST00000482957 ENST00000344425(uc002yfc.1)

ENST00000354587 ENST00000359689 ENST00000430658(uc002yez.1)

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Additional cDNA sequence:

BC020384.1 BC127262.1

16 DOTS entries:

DT.440674 DT.75191622 DT.95371610 DT.95371605 DT.100744137 DT.100017848 DT.421991 DT.40283987

DT.95074472 DT.91644063 DT.100669553 DT.120801397 DT.91868009 DT.95193752 DT.91800171 DT.95335833

24/87 AceView cDNA sequences (see all 87):

BC020384 BX098600 AF074247 BC000699 D82346 BF981606 AI571287 AI638340

BQ787998 NM_172109 CR621726 AI672562 NM_172106 BU785103 NM_004518 BE257127

BT007043 AW292874 AA812513 H45987 BF311176 BM700820 AL535991 AI871417

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ2 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8a	·	8b	^	9	^	10	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17a	·	17b	^	18	^	19
SP1:			-				-														-		-		-				-		-														-
SP2:			-				-														-		-		-
SP3:							-
SP4:
SP5:

ECgene alternative splicing isoforms for KCNQ2

(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

KCNQ2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGGTGGCGT

About this image

KCNQ2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Mandibular Process

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Definitive endoderm-like cells (A scalable, suspensi...)

See KCNQ2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNQ2

SOURCE GeneReport for Unigene clusters: Hs.161851 Hs.652468

UniProtKB/Swiss-Prot: KCNQ2_HUMAN, O43526

Tissue specificity: In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal

chord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in

fetal brain, undifferentiated neuroblastoma cells and brain tumors

SABiosciences Expression via Pathway-Focused PCR Array including KCNQ2:

Neuronal Ion Channels in human mouse rat

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

Orthologs for KCNQ2 gene from 6/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KCNQ2¹	potassium voltage-gated channel, KQT-like subfamily, more	83.08(n) 90.2(a)		428151 XM_001233449.1 XP_001233450.1
lizard (Anolis carolinensis)	Reptilia	KCNQ2⁶	--	86(a)	1 ↔ 1	4(154033759-154113731)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.18626²	Transcribed sequence with moderate similarity to protein more	73.53(n)		AL783084.2
zebrafish (Danio rerio)	Actinopterygii	kcnq2¹	potassium voltage-gated channel, KQT-like subfamily, more	74(n) 78.89(a)		100537363 XM_003198845.1 XP_003198893.1
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	39(a)		X(6655345-6662969) --

ENSEMBL Gene Tree for KCNQ2 (if available)
TreeFam Gene Tree for KCNQ2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for KCNQ2 gene

KCNQ3² KCNQ1² KCNQ5² KCNQ4²

4 SIMAP similar genes for KCNQ2 using alignment to 10 protein entries: KCNQ2_HUMAN (see all proteins):

KCNQ5 KCNQ4 KCNQ3 KCNQ1

KCNQ2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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)
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SNP ID	Valid	Clinical significance	Chr 20 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs12481082^1,2	C,H	non-pathogenic	62038052(+)	`TGGCCA/GAGCGT`	8	S L	mis¹ ese³		1		NA	2
rs117067974^1,2	C,F,	pathogenic	62045527(+)	`ATGTCC/GTCTCC`	8	D E	mis¹		1		EA	120
rs74315390^1,2	C	pathogenic	62070962(-)	`TCTTCA/GCGCTG`	10	T A	mis¹		0	--	--	--	--
rs28939683^1,2	C	pathogenic	62071027(-)	`CAAGTA/GCCCCC`	10	Y C	mis¹ ese³		0	--	--	--	--
rs74315392^1,2	C	pathogenic	62073835(-)	`GGCCTA/C/GGTTCC`	15	* S W	stg¹ mis¹		0	--	--	--	--
rs28939684^1,2	C	pathogenic	62076062(-)	`ACCGGC/TGGGGA`	10	R W	mis¹ ese³		0	--	--	--	--
rs118192200^1,2	C	pathogenic	62076082(-)	`TCTGCA/GGATGA`	10	Q R	mis¹		0	--	--	--	--
rs74315391^1,2	C,	pathogenic	62076083(-)	`TTCTGC/TGGATG`	10	R W	mis¹		0	--	--	--	--
rs114805896^1,2	C,F,	--	62037089(+)	`AGAGGG/AGAGGA`	4	--	ds500¹		2		WA NA	238
rs73918905^1,2	C,	--	62037326(+)	`TCCTCG/AGCTGC`	4	--	ds500¹		3		WA NA	240

HapMap Linkage Disequilibrium report for KCNQ2 (62037542 - 62103993 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for KCNQ2
5 CNVs: 31044 4107 23630 5149 5150
Human Gene Mutation Database (HGMD): KCNQ2

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(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.)
About This Section

KCNQ2 for disorders           About GeneDecksing

OMIM gene information: 602235
OMIM disorders: 121200  613720
UniProtKB/Swiss-Prot: KCNQ2_HUMAN, O43526

Defects in KCNQ2 are the cause of benign familial neonatal seizures type 1 (BFNS1) [MIM:121200]. 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. Some rare cases manifest an atypical severe phenotype

associated with epileptic encephalopathy and psychomotor retardation. The disorder is distinguished from benign

familial infantile seizures by an earlier age at onset. In some patients, neonatal convulsions are followed later in

life by myokymia, a benign condition characterized by spontaneous involuntary contractions of skeletal muscles fiber

groups that can be observed as vermiform movement of the overlying skin. Electromyography typically shows continuous

motor unit activity with spontaneous oligo- and multiplet-discharges of high intraburst frequency (myokymic

discharges). Some patients may have isolated myokymia

Defects in KCNQ2 are the cause of epileptic encephalopathy early infantile type 7 (EIEE7) [MIM:613720]. EIEE7

is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant

delayed neurologic development and persistent neurologic abnormalities

20/24 diseases for KCNQ2 (see all 24): About MalaCards

epileptic encephalopathy, early infantile, 7 convulsions generalized epilepsy with febrile seizures plus seizures, benign neonatal, 1

generalized epilepsy neuroblastoma myokymia with neonatal epilepsy febrile seizures

long qt syndrome myokymia idiopathic generalized epilepsy benign neonatal seizures

febrile convulsions seizures corpus callosum intellectual disability

neuronitis seizure disorder bipolar disorder down syndrome

2 diseases from the University of Copenhagen DISEASES database for KCNQ2:

Brain disease Long QT syndrome

10 Novoseek disease relationships for KCNQ2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
familial benign neonatal convulsions	98.6	32	15178210 (3), 18166285 (2), 18483067 (2), 17475800 (2) (see all 24)
neonatal convulsions benign	95.1	3	10884071 (1), 10774989 (1), 18625963 (1)
seizures, benign neonatal	93.5	3	17140792 (1), 18249525 (1), 15596769 (1)
epilepsy, idiopathic generalized	81.4	4	10363917 (2), 19464834 (1), 9677360 (1)
convulsions neonatal	77.8	1	10482260 (1)
epilepsy	75	28	18625963 (3), 9827540 (1), 10996506 (1), 9872318 (1) (see all 25)
epilepsy frontal lobe	67.3	3	15264690 (1), 17008177 (1), 19822871 (1)
seizures febrile	62.5	4	12395102 (2), 19853223 (1), 17008177 (1)
epilepsy generalized	60.5	2	17008177 (1), 11784811 (1)
mental retardation	4.66	1	15249611 (1)

Genetic Association Database (GAD): KCNQ2
Human Genome Epidemiology (HuGE) Navigator: KCNQ2 (3 documents)

Export disorders for KCNQ2 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 KCNQ2 gene, integrated from 9 sources (see all 138):
(articles sorted by number of sources associating them with KCNQ2)

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

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. (PubMed id 9425895)^{1, 2, 3, 9} Singh N.A....Leppert M. (1998)
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)
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)
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. (PubMed id 17872363)^{1, 2, 9} Wuttke T.V....Lerche H. (2007)
A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. (PubMed id 15249611)^{1, 2, 9} Borgatti R.... Bassi M.T. (2004)
Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel. (PubMed id 11572947)^{1, 2, 9} Dedek K....Steinlein O.K. (2001)
Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy. (PubMed id 10781098)^{1, 2, 9} Cooper E.C.... Jan L.Y. (2000)
The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3. (PubMed id 9827540)^{1, 2, 9} Tinel N.... Borsotto M. (1998)
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)

(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: 3785	HGNC: 6296	AceView: KCNQ2	Ensembl:ENSG00000075043	euGenes: HUgn3785
ECgene: KCNQ2	Kegg: 3785	H-InvDB: KCNQ2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KCNQ2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KCNQ2

Intellectual Property for KCNQ2 gene
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Patent Information for KCNQ2 gene:
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GeneCards and IP:
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potassium voltage-gated channel, KQT-like subfamily, member...

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