Details for: KCNQ3

Gene ID: 3786

Symbol: KCNQ3

Ensembl ID: ENSG00000184156

Description: potassium voltage-gated channel subfamily Q member 3

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 5.46
    Marker Score: 184331
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 4.24
    Marker Score: 1531
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 3.77
    Marker Score: 1875.5
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 3.66
    Marker Score: 8408
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 3.45
    Marker Score: 15947
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 3.4
    Marker Score: 1972
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.91
    Marker Score: 8306
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.84
    Marker Score: 21762
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.83
    Marker Score: 56208
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.82
    Marker Score: 42213
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.66
    Marker Score: 1023
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.61
    Marker Score: 10814
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.6
    Marker Score: 98876
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 2.59
    Marker Score: 4351
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 2.51
    Marker Score: 13154
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.42
    Marker Score: 3399
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.34
    Marker Score: 9056
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.32
    Marker Score: 85597
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.2
    Marker Score: 20660
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 127923
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.05
    Marker Score: 21190
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.98
    Marker Score: 1109
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.97
    Marker Score: 8038
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.95
    Marker Score: 815
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18303
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.9
    Marker Score: 40569
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16106
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.82
    Marker Score: 576
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.77
    Marker Score: 13317
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.66
    Marker Score: 2562
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.61
    Marker Score: 3060
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.61
    Marker Score: 1606
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.52
    Marker Score: 695
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 1.49
    Marker Score: 983
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.47
    Marker Score: 2994
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168100
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.4
    Marker Score: 671
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.38
    Marker Score: 1717
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.38
    Marker Score: 376
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.33
    Marker Score: 1526
  • Cell Name: glial cell (CL0000125)
    Fold Change: 1.27
    Marker Score: 1392
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.22
    Marker Score: 19156
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.2
    Marker Score: 395
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.19
    Marker Score: 895
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 486
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4811
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.12
    Marker Score: 709
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.1
    Marker Score: 17583.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.06
    Marker Score: 635
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.04
    Marker Score: 4352
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71815
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48040
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.98
    Marker Score: 3276
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.98
    Marker Score: 281
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.96
    Marker Score: 291
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.95
    Marker Score: 1178
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5293
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.92
    Marker Score: 297
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.92
    Marker Score: 335
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2739
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 325
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.9
    Marker Score: 4814
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.88
    Marker Score: 669
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5286
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.86
    Marker Score: 1558.5
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.82
    Marker Score: 492
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.82
    Marker Score: 393
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.79
    Marker Score: 1867
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.78
    Marker Score: 262
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 694
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.74
    Marker Score: 194
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 461
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 179
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.7
    Marker Score: 181
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.69
    Marker Score: 1658
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.68
    Marker Score: 330
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.66
    Marker Score: 371
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.64
    Marker Score: 551
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.63
    Marker Score: 4125
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.62
    Marker Score: 195
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.6
    Marker Score: 174
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.56
    Marker Score: 157
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 443
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 174
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.51
    Marker Score: 130.5
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.51
    Marker Score: 2685
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.5
    Marker Score: 211
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.5
    Marker Score: 962
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.49
    Marker Score: 2955
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.49
    Marker Score: 223.5
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.49
    Marker Score: 263

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Other Information

**Key characteristics:** * The KCNQ3 gene is located on chromosome 19q21.1. * It is a large gene with a length of approximately 3.5 kb. * KCNQ3 is expressed in a variety of cell types, including Purkinje cells, microglial cells, central nervous system macrophages, macroglial cells, inhibitory interneurons, brainstem motor neurons, cerebral cortex neurons, and sncg GABAergic interneurons. * KCNQ3 is a highly conserved protein, with a sequence similarity of over 90% between human and mouse KCNQ3. * It is a transmembrane protein with a calculated molecular weight of approximately 140 kDa. **Pathways and functions:** * KCNQ3 is a key component of the axonal guidance pathway, which is responsible for directing axons to their appropriate destinations. * It is also involved in synaptic transmission, where it forms a heterotrimer with other KCNQ proteins to form the voltage-gated potassium channel complex. * KCNQ3 is also involved in endocytosis and exocytosis, where it regulates the uptake and release of molecules from and into cells. * It is also involved in developmental biology, where it is expressed in neural stem cells and plays a role in neuronal differentiation. **Clinical significance:** Mutations in the KCNQ3 gene have been linked to a number of human diseases, including autism, schizophrenia, and epilepsy. These diseases are characterized by abnormal brain development and function, which is thought to be due to defects in the function of KCNQ3. **Additional information:** * KCNQ3 is a member of the KCNQ family of potassium channels, which are a large and diverse group of proteins that are expressed in a variety of cell types. * KCNQ channels are voltage-gated ion channels that open or close in response to changes in the electrical potential across the cell membrane. * They are involved in a variety of cellular processes, including axon guidance, synaptic transmission, and neuronal development.

Genular Protein ID: 4282033542

Symbol: KCNQ3_HUMAN

Name: KQT-like 3

UniProtKB Accession Codes:

O43525 A2VCT8 B4DJY4 E7EQ89

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DNASU 1 DisGeNET 1 DrugBank 9 DrugCentral 1 EMBL 21 Ensembl 2 ExpressionAtlas 1 GO 35 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HPA 1 InParanoid 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 1 PRINTS 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 2 RefSeq 2 SAM 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

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: 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: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

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: 9425900

Title: A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

PubMed ID: 9425900

DOI: 10.1038/ng0198-53

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: 11159685

Title: Characterization of KCNQ5/Q3 potassium channels expressed in mammalian cells.

PubMed ID: 11159685

DOI: 10.1038/sj.bjp.0703861

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: 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: 10852552

Title: A novel mutation of KCNQ3 (c.925T-->C) in a Japanese family with benign familial neonatal convulsions.

PubMed ID: 10852552

DOI: 10.1002/1531-8249(200006)47:6<822::aid-ana19>3.3.co;2-o

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: 22612257

Title: Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

PubMed ID: 22612257

DOI: 10.1111/j.1528-1167.2012.03516.x

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: 25982755

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

PubMed ID: 25982755

DOI: 10.1111/epi.13020

Sequence Information:

  • Length: 872
  • Mass: 96742
  • Checksum: BB79C69EE8591A84
  • Sequence:
    • MGLKARRAAG AAGGGGDGGG GGGGAANPAG GDAAAAGDEE RKVGLAPGDV EQVTLALGAG 
ADKDGTLLLE GGGRDEGQRR TPQGIGLLAK TPLSRPVKRN NAKYRRIQTL IYDALERPRG 
WALLYHALVF LIVLGCLILA VLTTFKEYET VSGDWLLLLE TFAIFIFGAE FALRIWAAGC 
CCRYKGWRGR LKFARKPLCM LDIFVLIASV PVVAVGNQGN VLATSLRSLR FLQILRMLRM 
DRRGGTWKLL GSAICAHSKE LITAWYIGFL TLILSSFLVY LVEKDVPEVD AQGEEMKEEF 
ETYADALWWG LITLATIGYG DKTPKTWEGR LIAATFSLIG VSFFALPAGI LGSGLALKVQ 
EQHRQKHFEK RRKPAAELIQ AAWRYYATNP NRIDLVATWR FYESVVSFPF FRKEQLEAAS 
SQKLGLLDRV RLSNPRGSNT KGKLFTPLNV DAIEESPSKE PKPVGLNNKE RFRTAFRMKA 
YAFWQSSEDA GTGDPMAEDR GYGNDFPIED MIPTLKAAIR AVRILQFRLY KKKFKETLRP 
YDVKDVIEQY SAGHLDMLSR IKYLQTRIDM IFTPGPPSTP KHKKSQKGSA FTFPSQQSPR 
NEPYVARPST SEIEDQSMMG KFVKVERQVQ DMGKKLDFLV DMHMQHMERL QVQVTEYYPT 
KGTSSPAEAE KKEDNRYSDL KTIICNYSET GPPEPPYSFH QVTIDKVSPY GFFAHDPVNL 
PRGGPSSGKV QATPPSSATT YVERPTVLPI LTLLDSRVSC HSQADLQGPY SDRISPRQRR 
SITRDSDTPL SLMSVNHEEL ERSPSGFSIS QDRDDYVFGP NGGSSWMREK RYLAEGETDT 
DTDPFTPSGS MPLSSTGDGI SDSVWTPSNK PI

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. For the full schema, download it here.