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Aliases for KCNQ2 Gene

Aliases for KCNQ2 Gene

  • Potassium Voltage-Gated Channel Subfamily Q Member 2 2 3 5
  • Potassium Channel, Voltage Gated KQT-Like Subfamily Q, Member 2 2 3
  • Neuroblastoma-Specific Potassium Channel Subunit Alpha KvLQT2 3 4
  • Voltage-Gated Potassium Channel Subunit Kv7.2 3 4
  • Potassium Voltage-Gated Channel, KQT-Like Subfamily, Member 2 2
  • Potassium Voltage-Gated Channel Subfamily KQT Member 2 3
  • KQT-Like 2 4
  • KCNA11 3
  • HNSPC 3
  • KV7.2 3
  • BFNC 3
  • EBN1 3
  • ENB1 3
  • EBN 3

External Ids for KCNQ2 Gene

Previous HGNC Symbols for KCNQ2 Gene

  • EBN
  • EBN1

Previous GeneCards Identifiers for KCNQ2 Gene

  • GC20M061909
  • GC20M062710
  • GC20M062757
  • GC20M062756
  • GC20M061502
  • GC20M062038
  • GC20M058763

Summaries for KCNQ2 Gene

Entrez Gene Summary for KCNQ2 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 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]

GeneCards Summary for KCNQ2 Gene

KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2) is a Protein Coding gene. Diseases associated with KCNQ2 include Epileptic Encephalopathy, Early Infantile, 7 and Seizures, Benign Neonatal, 1. Among its related pathways are Developmental Biology and Neuroscience. GO annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is KCNQ3.

UniProtKB/Swiss-Prot for KCNQ2 Gene

  • 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.

Tocris Summary for KCNQ2 Gene

  • Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The alpha-subunits contain a single pore-forming region and combine to form tetramers.

Gene Wiki entry for KCNQ2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNQ2 Gene

Genomics for KCNQ2 Gene

Regulatory Elements for KCNQ2 Gene

Enhancers for KCNQ2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G063453 1.4 FANTOM5 ENCODE dbSUPER 15.7 +18.3 18255 2.6 CTCF KLF1 MXI1 KLF17 NFXL1 RAD21 ZFHX2 GATA3 POLR2A ZNF366 ENSG00000226390 KCNQ2 CHRNA4 BHLHE23 STMN3 RTEL1 SRMS EEF1A2 NKAIN4 UCKL1
GH20G063172 1.6 FANTOM5 Ensembl ENCODE 11.1 +296.0 296048 8.3 SIN3A ZNF48 ZNF121 GLIS2 ZNF143 SP3 MXD4 ZNF488 MIER2 REST BIRC7 CHRNA4 ENSG00000231977 RTEL1 TNFRSF6B KCNQ2 ZNF512B ZBTB46 NKAIN4 COL20A1
GH20G063445 0.7 dbSUPER 24.6 +26.3 26311 2.4 ZNF263 ZBTB10 MAZ KLF1 RFX1 BMI1 ATF2 ZFHX2 SCRT2 FOS KCNQ2 ENSG00000226390 GC20P063443 LOC105372720
GH20G063432 1.6 Ensembl ENCODE dbSUPER 8.8 +38.7 38661 2.8 HDGF ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ENSG00000226390 KCNQ2 LOC105372721 ENSG00000280936
GH20G063455 1.1 dbSUPER 6.7 +15.6 15573 2.2 HDGF PKNOX1 FOXA2 CREB3L1 ZBTB7B ZNF207 FOS SP3 JUNB ZHX2 RTEL1 TNFRSF6B MIR647 EEF1A2 PCMTD2 ZNF512B ARFGAP1 LOC105372725 PRPF6 ZBTB46
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KCNQ2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KCNQ2 Gene

Chromosome:
20
Start:
63,400,208 bp from pter
End:
63,472,677 bp from pter
Size:
72,470 bases
Orientation:
Minus strand

Genomic View for KCNQ2 Gene

Genes around KCNQ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNQ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNQ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNQ2 Gene

Proteins for KCNQ2 Gene

  • Protein details for KCNQ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43526-KCNQ2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily KQT member 2
    Protein Accession:
    O43526
    Secondary Accessions:
    • O43796
    • O75580
    • O95845
    • Q4VXP4
    • Q4VXR6
    • Q5VYT8
    • Q96J59
    • Q99454

    Protein attributes for KCNQ2 Gene

    Size:
    872 amino acids
    Molecular mass:
    95848 Da
    Quaternary structure:
    • Heteromultimer with KCNQ3. May associate with KCNE2.
    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.
    • 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.

    Three dimensional structures from OCA and Proteopedia for KCNQ2 Gene

    Alternative splice isoforms for KCNQ2 Gene

neXtProt entry for KCNQ2 Gene

Post-translational modifications for KCNQ2 Gene

  • 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-terminal region.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for KCNQ2 Gene

Domains & Families for KCNQ2 Gene

Gene Families for KCNQ2 Gene

Graphical View of Domain Structure for InterPro Entry

O43526

UniProtKB/Swiss-Prot:

KCNQ2_HUMAN :
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily.
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position.
Family:
  • Belongs to the potassium channel family. KQT (TC 1.A.1.15) subfamily. Kv7.2/KCNQ2 sub-subfamily.
genes like me logo Genes that share domains with KCNQ2: view

Function for KCNQ2 Gene

Molecular function for KCNQ2 Gene

GENATLAS Biochemistry:
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)
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for KCNQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005244 voltage-gated ion channel activity IEA --
GO:0005249 voltage-gated potassium channel activity IEA --
GO:0005267 potassium channel activity TAS 9430594
GO:0030506 ankyrin binding IPI 16525039
genes like me logo Genes that share ontologies with KCNQ2: view
genes like me logo Genes that share phenotypes with KCNQ2: view

Human Phenotype Ontology for KCNQ2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNQ2 Gene

MGI Knock Outs for KCNQ2:

Animal Model Products

  • Taconic Biosciences Mouse Models for KCNQ2

CRISPR Products

miRNA for KCNQ2 Gene

miRTarBase miRNAs that target KCNQ2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KCNQ2 Gene

Localization for KCNQ2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNQ2 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KCNQ2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 3
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for KCNQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,IBA --
GO:0033268 node of Ranvier ISS 16525039
genes like me logo Genes that share ontologies with KCNQ2: view

Pathways & Interactions for KCNQ2 Gene

genes like me logo Genes that share pathways with KCNQ2: view

Pathways by source for KCNQ2 Gene

1 Cell Signaling Technology pathway for KCNQ2 Gene
1 PharmGKB pathway for KCNQ2 Gene
1 KEGG pathway for KCNQ2 Gene
1 Qiagen pathway for KCNQ2 Gene

Gene Ontology (GO) - Biological Process for KCNQ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA,TAS 9677360
GO:0007268 chemical synaptic transmission TAS 9425895
GO:0007399 nervous system development TAS 9425895
genes like me logo Genes that share ontologies with KCNQ2: view

No data available for SIGNOR curated interactions for KCNQ2 Gene

Drugs & Compounds for KCNQ2 Gene

(24) Drugs for KCNQ2 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezogabine Approved Pharma Activator, activator, Target Activator of voltage-gated potassium channel, an anticonvulsant agent 28
flupirtine Approved, Investigational Pharma Activator Analgesic agent 3
Potassium Approved Pharma 0
Amitriptyline Approved Pharma Antagonist, Target, inhibitor 110
Diclofenac Approved, Vet_approved Pharma Channel blocker, Target, other 323

(5) Additional Compounds for KCNQ2 Gene - From: HMDB, IUPHAR, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
BMS204352
Activator
N-(S)-MPEPAamide
Activator
4'-Hydroxydiclofenac
  • (O-(2,6-Dichloro-4-hydroxyanilino)phenyl)acetic acid
  • 4'-Hydroxy diclofenac
  • 4'-OH DCF
  • {2-[(2,6-dichloro-4-hydroxyphenyl)amino]phenyl}acetic acid
64118-84-9
HMR 1556
223749-46-0

(5) Tocris Compounds for KCNQ2 Gene

Compound Action Cas Number
4-Aminopyridine Non-selective KV channel blocker 504-24-5
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) 113559-13-0
HMR 1556 Potent and selective Iks channel blocker 223749-46-0
Linopirdine dihydrochloride KV7 (KCNQ) channel blocker 113168-57-3
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-currents 122955-13-9
genes like me logo Genes that share compounds with KCNQ2: view

Transcripts for KCNQ2 Gene

Unigene Clusters for KCNQ2 Gene

Potassium voltage-gated channel, KQT-like subfamily, member 2:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for KCNQ2 Gene

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:
SP6: - - - -
SP7:
SP8:

Relevant External Links for KCNQ2 Gene

GeneLoc Exon Structure for
KCNQ2
ECgene alternative splicing isoforms for
KCNQ2

Expression for KCNQ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KCNQ2 Gene

mRNA differential expression in normal tissues according to GTEx for KCNQ2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.8), Brain - Cerebellum (x5.7), Brain - Anterior cingulate cortex (BA24) (x4.9), Brain - Cortex (x4.8), Brain - Frontal Cortex (BA9) (x4.7), Brain - Nucleus accumbens (basal ganglia) (x4.2), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for KCNQ2 Gene

This gene is overexpressed in Heart (45.7), Frontal cortex (15.2), and Fetal Brain (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KCNQ2 Gene



Protein tissue co-expression partners for KCNQ2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KCNQ2 Gene:

KCNQ2

SOURCE GeneReport for Unigene cluster for KCNQ2 Gene:

Hs.161851

mRNA Expression by UniProt/SwissProt for KCNQ2 Gene:

O43526-KCNQ2_HUMAN
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.

Evidence on tissue expression from TISSUES for KCNQ2 Gene

  • Nervous system(4.9)
  • Eye(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KCNQ2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with KCNQ2: view

Primer Products

Orthologs for KCNQ2 Gene

This gene was present in the common ancestor of animals.

Orthologs for KCNQ2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNQ2 34 35
  • 96.48 (n)
oppossum
(Monodelphis domestica)
Mammalia KCNQ2 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNQ2 34 35
  • 89.05 (n)
dog
(Canis familiaris)
Mammalia KCNQ2 34 35
  • 88.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KCNQ2 35
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnq2 34 16 35
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Kcnq2 34
  • 86.56 (n)
chicken
(Gallus gallus)
Aves KCNQ2 34 35
  • 83.2 (n)
lizard
(Anolis carolinensis)
Reptilia KCNQ2 35
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnq2 34
  • 75.13 (n)
Str.18626 34
zebrafish
(Danio rerio)
Actinopterygii KCNQ2 (1 of 3) 35
  • 92 (a)
OneToMany
kcnq2 34
  • 73.88 (n)
KCNQ2 (3 of 3) 35
  • 70 (a)
OneToMany
kcnq2a 35
  • 63 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea kqt-1 36
  • 39 (a)
kqt-2 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 55 (a)
OneToMany
Species where no ortholog for KCNQ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KCNQ2 Gene

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

Paralogs for KCNQ2 Gene

Paralogs for KCNQ2 Gene

(4) SIMAP similar genes for KCNQ2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with KCNQ2: view

Variants for KCNQ2 Gene

Sequence variations from dbSNP and Humsavar for KCNQ2 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs118192201 Pathogenic, Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] 63,444,727(-) TGCGG(A/G)TGATC reference, missense
rs118192204 Pathogenic, Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] 63,444,665(-) GCCCA(A/C)AGCAA reference, missense
rs118192205 Pathogenic, Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] 63,442,495(-) TTTGT(C/T)TCATC reference, missense
rs118192216 Pathogenic, Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] 63,438,650(-) GAGGC(A/G)GAACC reference, missense
rs267607198 Pathogenic, Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720], Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] 63,413,551(-) CGGAA(A/G/T)TTCAA downstream-variant-500B, reference, synonymous-codon, missense

Structural Variations from Database of Genomic Variants (DGV) for KCNQ2 Gene

Variant ID Type Subtype PubMed ID
dgv7666n54 CNV loss 21841781
esv1052133 CNV insertion 17803354
esv1065575 CNV insertion 17803354
esv1183382 CNV insertion 17803354
esv1486514 CNV insertion 17803354
esv2722922 CNV deletion 23290073
esv2722923 CNV deletion 23290073
esv2722924 CNV deletion 23290073
esv2722925 CNV deletion 23290073
esv2722926 CNV deletion 23290073
esv2722927 CNV deletion 23290073
esv2758806 CNV gain+loss 17122850
esv3310481 CNV novel sequence insertion 20981092
esv3332448 CNV duplication 20981092
esv3346472 CNV duplication 20981092
esv3568097 CNV loss 25503493
esv3646317 CNV gain 21293372
esv996888 CNV insertion 20482838
nsv1072135 CNV deletion 25765185
nsv1126602 CNV deletion 24896259
nsv1130773 CNV deletion 24896259
nsv178974 CNV deletion 16902084
nsv3447 CNV insertion 18451855
nsv470562 CNV loss 18288195
nsv476866 CNV novel sequence insertion 20440878
nsv513563 CNV insertion 21212237
nsv586565 CNV loss 21841781
nsv834033 CNV gain 17160897
nsv834034 CNV loss 17160897
nsv953306 CNV deletion 24416366
nsv9825 CNV gain 18304495

Variation tolerance for KCNQ2 Gene

Residual Variation Intolerance Score: 5.91% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.24; 52.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNQ2 Gene

Human Gene Mutation Database (HGMD)
KCNQ2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KCNQ2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNQ2 Gene

Disorders for KCNQ2 Gene

MalaCards: The human disease database

(30) MalaCards diseases for KCNQ2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 7
  • ohtahara syndrome
seizures, benign neonatal, 1
  • myokymia
benign familial neonatal epilepsy
  • benign familial neonatal seizures
centrotemporal epilepsy
  • benign rolandic epilepsy
seizures, benign neonatal, type 2
  • benign neonatal epilepsy 2
- elite association - COSMIC cancer census association via MalaCards
Search KCNQ2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KCNQ2_HUMAN
  • Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720]: An autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. {ECO:0000269 PubMed:12742592, ECO:0000269 PubMed:15249611}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Seizures, benign familial neonatal 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. {ECO:0000269 PubMed:11175290, ECO:0000269 PubMed:11572947, ECO:0000269 PubMed:14534157, ECO:0000269 PubMed:15249611, ECO:0000269 PubMed:9425895}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KCNQ2

Genetic Association Database (GAD)
KCNQ2
Human Genome Epidemiology (HuGE) Navigator
KCNQ2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNQ2
genes like me logo Genes that share disorders with KCNQ2: view

No data available for Genatlas for KCNQ2 Gene

Publications for KCNQ2 Gene

  1. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. (PMID: 9425895) Singh N.A. … Leppert M. (Nat. Genet. 1998) 2 3 4 22 64
  2. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. (PMID: 18625963) Neubauer B.A. … Sander T. (Neurology 2008) 3 22 46 64
  3. Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations. (PMID: 17872363) Wuttke T.V. … Lerche H. (Neurology 2007) 3 4 22 64
  4. A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. (PMID: 15249611) Borgatti R. … Bassi M.T. (Neurology 2004) 3 4 22 64
  5. KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. (PMID: 14534157) Singh N.A. … Leppert M.F. (Brain 2003) 3 4 22 64

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