Details for: KCNQ2

Gene ID: 3785

Symbol: KCNQ2

Ensembl ID: ENSG00000075043

Description: potassium voltage-gated channel subfamily Q member 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 124.3084
    Cell Significance Index: -31.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.2417
    Cell Significance Index: 449.6900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.6130
    Cell Significance Index: 578.5700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.3547
    Cell Significance Index: 59.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.2752
    Cell Significance Index: 882.0000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.2475
    Cell Significance Index: 47.2400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.1141
    Cell Significance Index: 320.5600
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.7916
    Cell Significance Index: 10.5600
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2618
    Cell Significance Index: 5.4800
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: 0.2332
    Cell Significance Index: 3.1500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1762
    Cell Significance Index: 3.0200
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.0904
    Cell Significance Index: 0.8600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0044
    Cell Significance Index: -0.2200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0046
    Cell Significance Index: -0.1900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0161
    Cell Significance Index: -30.3200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0206
    Cell Significance Index: -37.9100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0226
    Cell Significance Index: -0.9800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0246
    Cell Significance Index: -37.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0278
    Cell Significance Index: -37.7700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0354
    Cell Significance Index: -0.9900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0424
    Cell Significance Index: -26.9400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0437
    Cell Significance Index: -33.1100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0463
    Cell Significance Index: -34.2700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0486
    Cell Significance Index: -27.3900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0541
    Cell Significance Index: -29.5400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0612
    Cell Significance Index: -38.2100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0685
    Cell Significance Index: -31.0700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0887
    Cell Significance Index: -11.3700
  • Cell Name: sensory neuron (CL0000101)
    Fold Change: -0.1038
    Cell Significance Index: -0.5900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1442
    Cell Significance Index: -26.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1531
    Cell Significance Index: -8.0400
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1611
    Cell Significance Index: -1.7600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1633
    Cell Significance Index: -32.4000
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1661
    Cell Significance Index: -4.1400
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1672
    Cell Significance Index: -1.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1775
    Cell Significance Index: -37.3900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1831
    Cell Significance Index: -26.6100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1834
    Cell Significance Index: -4.0200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2192
    Cell Significance Index: -26.9600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2203
    Cell Significance Index: -25.6700
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2258
    Cell Significance Index: -31.0100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2419
    Cell Significance Index: -41.3000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2619
    Cell Significance Index: -3.7500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2719
    Cell Significance Index: -8.6600
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2862
    Cell Significance Index: -9.3700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.3094
    Cell Significance Index: -36.4900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3109
    Cell Significance Index: -32.3700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3307
    Cell Significance Index: -37.8900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3470
    Cell Significance Index: -2.3500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3498
    Cell Significance Index: -19.6300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3596
    Cell Significance Index: -7.7700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3741
    Cell Significance Index: -7.9400
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3860
    Cell Significance Index: -7.7500
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3900
    Cell Significance Index: -8.1400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.3987
    Cell Significance Index: -4.9500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.4102
    Cell Significance Index: -8.1100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4109
    Cell Significance Index: -26.5100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4393
    Cell Significance Index: -15.3900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4405
    Cell Significance Index: -33.8000
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: -0.4446
    Cell Significance Index: -3.4100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4586
    Cell Significance Index: -11.4400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4929
    Cell Significance Index: -5.7500
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.5266
    Cell Significance Index: -5.8100
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: -0.5325
    Cell Significance Index: -3.1600
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -0.5500
    Cell Significance Index: -1.2400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5736
    Cell Significance Index: -36.1500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.5816
    Cell Significance Index: -27.3400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.6119
    Cell Significance Index: -27.7400
  • Cell Name: neuroblast (sensu Nematoda and Protostomia) (CL0000338)
    Fold Change: -0.6644
    Cell Significance Index: -6.0400
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.6815
    Cell Significance Index: -8.6000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.6982
    Cell Significance Index: -7.9300
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.7509
    Cell Significance Index: -14.7800
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.7559
    Cell Significance Index: -13.0700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.7948
    Cell Significance Index: -27.6200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7967
    Cell Significance Index: -20.4800
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.8755
    Cell Significance Index: -11.6700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.9096
    Cell Significance Index: -42.4100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.9112
    Cell Significance Index: -15.2500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.9168
    Cell Significance Index: -27.0100
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.9392
    Cell Significance Index: -6.1100
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.9451
    Cell Significance Index: -19.2300
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.9487
    Cell Significance Index: -11.3500
  • Cell Name: glioblast (CL0000030)
    Fold Change: -0.9491
    Cell Significance Index: -5.9600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.9590
    Cell Significance Index: -27.4900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.9594
    Cell Significance Index: -15.8100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.9642
    Cell Significance Index: -33.8800
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.9792
    Cell Significance Index: -8.0800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.9820
    Cell Significance Index: -28.8400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.9922
    Cell Significance Index: -51.5400
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.0458
    Cell Significance Index: -38.3900
  • Cell Name: sebaceous gland cell (CL2000021)
    Fold Change: -1.0666
    Cell Significance Index: -1.3800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -1.1063
    Cell Significance Index: -22.0600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -1.1084
    Cell Significance Index: -13.9900
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -1.1087
    Cell Significance Index: -13.8300
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.1120
    Cell Significance Index: -23.7700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -1.1168
    Cell Significance Index: -28.5300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.1190
    Cell Significance Index: -29.8800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -1.1592
    Cell Significance Index: -22.6300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.1620
    Cell Significance Index: -33.4800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -1.1778
    Cell Significance Index: -28.5300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** The KCNQ2 gene is a transmembrane protein that belongs to the voltage-gated potassium channel family. It is characterized by its ability to form heteromeric channels with other KCNQ subunits, such as KCNQ1, to create functional potassium channels. KCNQ2 channels are specifically expressed in GABAergic cortical interneurons and are involved in regulating the excitability of these neurons. The gene is highly conserved across species, suggesting its importance in maintaining neuronal function and behavior. **Pathways and Functions** The KCNQ2 gene is involved in several key pathways and functions, including: 1. **Voltage-gated potassium channel activity**: KCNQ2 channels are activated by depolarization of the neuronal membrane, allowing potassium ions to flow out of the cell and hyperpolarizing the membrane. 2. **Regulation of synaptic transmission**: KCNQ2 channels modulate the release of neurotransmitters, such as GABA, and regulate the activity of excitatory neurons. 3. **Axon guidance and development**: KCNQ2 channels are involved in the guidance of axons during development and the formation of the nervous system. 4. **Ankyrin binding and interaction with L1**: KCNQ2 channels interact with ankyrin and L1, proteins that regulate the organization of the postsynaptic density and the localization of ion channels. **Clinical Significance** Dysregulation of KCNQ2 has been implicated in several neurological disorders, including: 1. **Epilepsy**: KCNQ2 mutations have been identified as a cause of epilepsy, particularly in patients with childhood absence epilepsy. 2. **Autism spectrum disorder**: KCNQ2 mutations have been associated with autism spectrum disorder, particularly in patients with intellectual disability. 3. **Schizophrenia**: KCNQ2 mutations have been implicated in the development of schizophrenia, particularly in patients with cognitive impairment. 4. **Neurodevelopmental disorders**: KCNQ2 is involved in the regulation of neuronal development and function, and dysregulation of the gene has been implicated in neurodevelopmental disorders, such as Rett syndrome and fragile X syndrome. In conclusion, the KCNQ2 gene plays a critical role in regulating neuronal excitability and synaptic transmission, and dysregulation of the gene has been implicated in various neurological disorders. Further research is needed to fully understand the mechanisms by which KCNQ2 regulates neuronal function and behavior, and to develop effective treatments for diseases associated with KCNQ2 dysfunction.

Genular Protein ID: 682013676

Symbol: KCNQ2_HUMAN

Name: KQT-like 2

UniProtKB Accession Codes:

O43526 O43796 O75580 O95845 Q4VXP4 Q4VXR6 Q5VYT8 Q96J59 Q99454

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 5 CORUM 1 CTD 1 ChEBI 7 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 8 DrugCentral 1 EMBL 9 EMDB 16 Ensembl 5 ExpressionAtlas 1 GO 14 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 19 PDBsum 19 PIR 1 PRINTS 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 RNAct 1 Reactome 2 RefSeq 5 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9039501

Title: Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles.

PubMed ID: 9039501

DOI: 10.1093/dnares/3.5.311

PubMed ID: 9425895

Title: A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns.

PubMed ID: 9425895

DOI: 10.1038/ng0198-25

PubMed ID: 9430594

Title: A potassium channel mutation in neonatal human epilepsy.

PubMed ID: 9430594

DOI: 10.1126/science.279.5349.403

PubMed ID: 9836639

Title: KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.

PubMed ID: 9836639

DOI: 10.1126/science.282.5395.1890

PubMed ID: 9827540

Title: The KCNQ2 potassium channel: splice variants, functional and developmental expression. Brain localization and comparison with KCNQ3.

PubMed ID: 9827540

DOI: 10.1016/s0014-5793(98)01296-4

PubMed ID: 9677360

Title: Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy.

PubMed ID: 9677360

DOI: 10.1074/jbc.273.31.19419

PubMed ID: 11160379

Title: Differential expression of KCNQ2 splice variants: implications to M current function during neuronal development.

PubMed ID: 11160379

DOI: 10.1523/jneurosci.21-04-01096.2001

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 9872318

Title: Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy.

PubMed ID: 9872318

DOI: 10.1038/25367

PubMed ID: 10479678

Title: Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell.

PubMed ID: 10479678

DOI: 10.1523/jneurosci.19-18-07742.1999

PubMed ID: 11034315

Title: M-type KCNQ2-KCNQ3 potassium channels are modulated by the KCNE2 subunit.

PubMed ID: 11034315

DOI: 10.1016/s0014-5793(00)01918-9

PubMed ID: 10788442

Title: Surface expression and single channel properties of KCNQ2/KCNQ3, M-type K+ channels involved in epilepsy.

PubMed ID: 10788442

DOI: 10.1074/jbc.275.18.13343

PubMed ID: 10684873

Title: Reconstitution of muscarinic modulation of the KCNQ2/KCNQ3 K(+) channels that underlie the neuronal M current.

PubMed ID: 10684873

DOI: 10.1523/jneurosci.20-05-01710.2000

PubMed ID: 10713961

Title: Inhibition of KCNQ1-4 potassium channels expressed in mammalian cells via M1 muscarinic acetylcholine receptors.

PubMed ID: 10713961

DOI: 10.1111/j.1469-7793.2000.t01-2-00349.x

PubMed ID: 10908292

Title: Modulation of KCNQ2/3 potassium channels by the novel anticonvulsant retigabine.

PubMed ID: 10908292

DOI: 10.1124/mol.58.2.253

PubMed ID: 10953053

Title: Retigabine, a novel anti-convulsant, enhances activation of KCNQ2/Q3 potassium channels.

PubMed ID: 10953053

DOI: 10.1124/mol.58.3.591

PubMed ID: 10713399

Title: The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells transfected with human KCNQ2/3 subunits.

PubMed ID: 10713399

DOI: 10.1016/s0304-3940(00)00866-1

PubMed ID: 10781098

Title: Colocalization and coassembly of two human brain M-type potassium channel subunits that are mutated in epilepsy.

PubMed ID: 10781098

DOI: 10.1073/pnas.090092797

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 16319223

Title: Identification by mass spectrometry and functional characterization of two phosphorylation sites of KCNQ2/KCNQ3 channels.

PubMed ID: 16319223

DOI: 10.1073/pnas.0509122102

PubMed ID: 24277843

Title: Dynamic PIP2 interactions with voltage sensor elements contribute to KCNQ2 channel gating.

PubMed ID: 24277843

DOI: 10.1073/pnas.1312483110

PubMed ID: 27445338

Title: Ubiquitin-specific Protease 36 (USP36) Controls Neuronal Precursor Cell-expressed Developmentally Down-regulated 4-2 (Nedd4-2) Actions over the Neurotrophin Receptor TrkA and Potassium Voltage-gated Channels 7.2/3 (Kv7.2/3).

PubMed ID: 27445338

DOI: 10.1074/jbc.m116.722637

PubMed ID: 28793216

Title: SMIT1 Modifies KCNQ Channel Function and Pharmacology by Physical Interaction with the Pore.

PubMed ID: 28793216

DOI: 10.1016/j.bpj.2017.06.055

PubMed ID: 27564677

Title: Structural insights into the M-channel proximal C-terminus/calmodulin complex.

PubMed ID: 27564677

DOI: 10.1021/acs.biochem.6b00477

PubMed ID: 32884139

Title: Molecular basis for ligand activation of the human KCNQ2 channel.

PubMed ID: 32884139

DOI: 10.1038/s41422-020-00410-8

PubMed ID: 37857637

Title: Ligand activation mechanisms of human KCNQ2 channel.

PubMed ID: 37857637

DOI: 10.1038/s41467-023-42416-x

PubMed ID: 10323247

Title: Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions.

PubMed ID: 10323247

DOI: 10.1007/pl00008713

PubMed ID: 11175290

Title: Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor.

PubMed ID: 11175290

DOI: 10.1038/sj.ejhg.5200570

PubMed ID: 11572947

Title: Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel.

PubMed ID: 11572947

DOI: 10.1073/pnas.211431298

PubMed ID: 14534157

Title: KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum.

PubMed ID: 14534157

DOI: 10.1093/brain/awg286

PubMed ID: 12742592

Title: Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2.

PubMed ID: 12742592

DOI: 10.1016/s0920-1211(03)00037-8

PubMed ID: 15249611

Title: A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation.

PubMed ID: 15249611

DOI: 10.1212/01.wnl.0000132979.08394.6d

PubMed ID: 17872363

Title: Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.

PubMed ID: 17872363

DOI: 10.1212/01.wnl.0000275523.95103.36

PubMed ID: 23360469

Title: Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

PubMed ID: 23360469

DOI: 10.1111/epi.12089

PubMed ID: 24463883

Title: Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

PubMed ID: 24463883

DOI: 10.1093/hmg/ddu030

PubMed ID: 25818041

Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

PubMed ID: 25818041

DOI: 10.1111/epi.12954

PubMed ID: 25982755

Title: Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome.

PubMed ID: 25982755

DOI: 10.1111/epi.13020

PubMed ID: 25740509

Title: Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

PubMed ID: 25740509

DOI: 10.1523/jneurosci.4423-14.2015

PubMed ID: 26138355

Title: Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.

PubMed ID: 26138355

DOI: 10.1111/cge.12636

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

Sequence Information:

  • Length: 872
  • Mass: 95848
  • Checksum: 22E8A0880A27B58C
  • Sequence:
    • MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG 
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK 
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI 
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF 
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI 
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW 
QYYERTVTVP MYSSQTQTYG ASRLIPPLNQ LELLRNLKSK SGLAFRKDPP PEPSPSKGSP 
CRGPLCGCCP GRSSQKVSLK DRVFSSPRGV AAKGKGSPQA QTVRRSPSAD QSLEDSPSKV 
PKSWSFGDRS RARQAFRIKG AASRQNSEEA SLPGEDIVDD KSCPCEFVTE DLTPGLKVSI 
RAVCVMRFLV SKRKFKESLR PYDVMDVIEQ YSAGHLDMLS RIKSLQSRVD QIVGRGPAIT 
DKDRTKGPAE AELPEDPSMM GRLGKVEKQV LSMEKKLDFL VNIYMQRMGI PPTETEAYFG 
AKEPEPAPPY HSPEDSREHV DRHGCIVKIV RSSSSTGQKN FSAPPAAPPV QCPPSTSWQP 
QSHPRQGHGT SPVGDHGSLV RIPPPPAHER SLSAYGGGNR ASMEFLRQED TPGCRPPEGN 
LRDSDTSISI PSVDHEELER SFSGFSISQS KENLDALNSC YAAVAPCAKV RPYIAEGESD 
TDSDLCTPCG PPPRSATGEG PFGDVGWAGP RK

Genular Protein ID: 1247513702

Symbol: Q53Y30_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q53Y30

Database IDs:

ARBA 3 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 2 Gene3D 2 HOGENOM 1 InterPro 3 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 3 Pfam 2 PharmGKB 1 RefSeq 1 SAM 1 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 393
  • Mass: 44261
  • Checksum: 9415BC4FC2F84675
  • Sequence:
    • MVQKSRNGGV YPGPSGEKKL KVGFVGLDPG APDSTRDGAL LIAGSEAPKR GSILSKPRAG 
GAGAGKPPKR NAFYRKLQNF LYNVLERPRG WAFIYHAYVF LLVFSCLVLS VFSTIKEYEK 
SSEGALYILE IVTIVVFGVE YFVRIWAAGC CCRYRGWRGR LKFARKPFCV IDIMVLIASI 
AVLAAGSQGN VFATSALRSL RFLQILRMIR MDRRGGTWKL LGSVVYAHSK ELVTAWYIGF 
LCLILASFLV YLAEKGENDH FDTYADALWW GLITLTTIGY GDKYPQTWNG RLLAATFTLI 
GVSFFALPAG ILGSGFALKV QEQHRQKHFE KRRNPAAGLI QSAWRFYATN LSRTDLHSTW 
QYYERTVTVP MYRYRRRAPA TKQLFHFLFS ICS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.