Details for: KCNC3

Gene ID: 3748

Symbol: KCNC3

Ensembl ID: ENSG00000131398

Description: potassium voltage-gated channel subfamily C 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: colon goblet cell (CL0009039)
    Fold Change: 1.6
    Marker Score: 1166
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.46
    Marker Score: 3438
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.37
    Marker Score: 1181
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.28
    Marker Score: 2597
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 851
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.23
    Marker Score: 45440
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.23
    Marker Score: 396
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.18
    Marker Score: 906
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.17
    Marker Score: 4850
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.16
    Marker Score: 483
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.15
    Marker Score: 17995
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.09
    Marker Score: 1685
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1
    Marker Score: 14952
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71819
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48044
  • Cell Name: neuron (CL0000540)
    Fold Change: 1
    Marker Score: 4063
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 505
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.94
    Marker Score: 35766
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5315
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 370
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.91
    Marker Score: 56130
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.91
    Marker Score: 7812
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 322
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.87
    Marker Score: 8279
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.87
    Marker Score: 398
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.83
    Marker Score: 259
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.82
    Marker Score: 479
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.8
    Marker Score: 15867
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.8
    Marker Score: 3079
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 604.5
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.79
    Marker Score: 8144
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1259
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 699
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.76
    Marker Score: 5838
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 393
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 458.5
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.72
    Marker Score: 3004
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.7
    Marker Score: 3240
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.69
    Marker Score: 330
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 177
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.67
    Marker Score: 1270.5
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.66
    Marker Score: 347
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.66
    Marker Score: 6187
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.63
    Marker Score: 2646
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.61
    Marker Score: 2275
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.61
    Marker Score: 1535
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.59
    Marker Score: 715
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.59
    Marker Score: 153
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.59
    Marker Score: 787
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.56
    Marker Score: 202
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 440
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 146
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.54
    Marker Score: 579
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.53
    Marker Score: 1492
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.49
    Marker Score: 215
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.48
    Marker Score: 1184.5
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.47
    Marker Score: 92
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.47
    Marker Score: 1666
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.46
    Marker Score: 1054
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.44
    Marker Score: 1255
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.42
    Marker Score: 208
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.42
    Marker Score: 461
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.41
    Marker Score: 13980
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.41
    Marker Score: 149
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.41
    Marker Score: 223
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.4
    Marker Score: 241
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.39
    Marker Score: 2924
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.38
    Marker Score: 2047
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 0.38
    Marker Score: 97
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 368
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.35
    Marker Score: 12232
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.35
    Marker Score: 497
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.35
    Marker Score: 110
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.34
    Marker Score: 132
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.34
    Marker Score: 107
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.33
    Marker Score: 140
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.33
    Marker Score: 169
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.32
    Marker Score: 1674
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.32
    Marker Score: 101
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.31
    Marker Score: 130
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.31
    Marker Score: 306
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.31
    Marker Score: 320
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.31
    Marker Score: 84
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.3
    Marker Score: 377
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.3
    Marker Score: 198
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.29
    Marker Score: 1196
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.28
    Marker Score: 147
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.28
    Marker Score: 97
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.25
    Marker Score: 148
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.25
    Marker Score: 648
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.25
    Marker Score: 417
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.25
    Marker Score: 261
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.25
    Marker Score: 246
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.24
    Marker Score: 254
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.24
    Marker Score: 156

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Other Information

**Key characteristics:** * KCNC3 is a transmembrane protein that spans the cell membrane. * It belongs to the potassium channel superfamily, which is responsible for maintaining resting membrane potentials in neurons. * KCNC3 is a tetrameric protein, meaning it consists of four subunits that assemble into a functional channel. * Each subunit of KCNC3 contains a pore-forming domain that allows potassium ions to flow down their concentration gradient. * When the channel is activated, it opens, allowing potassium ions to enter the cell. * This influx of potassium ions depolarizes the cell, which can lead to the generation of action potentials. **Pathways and functions:** * KCNC3 is involved in a variety of cellular processes, including neuronal excitability, synaptic transmission, and cellular signaling. * In the neuronal system, KCNC3 is expressed in neurons and plays a role in controlling their excitability. * It is also expressed in astrocytes, which are glial cells that provide support for neurons. * In the kidney, KCNC3 is expressed in renal cells, where it is involved in regulating water and electrolyte balance. * In the gut, KCNC3 is expressed in intestinal cells, where it plays a role in regulating gastrointestinal motility and inflammation. **Clinical significance:** Mutations in KCNC3 have been linked to a number of human diseases, including epilepsy, schizophrenia, and autism. These diseases are characterized by abnormal neuronal excitability and synaptic transmission. Therefore, KCNC3 is a promising target for the treatment of these disorders. **Additional notes:** * KCNC3 is a highly conserved protein, with a similar gene found in other mammals. * The expression of KCNC3 is regulated by a variety of factors, including changes in the extracellular calcium concentration, neurotransmitters, and hormones. * The trafficking and localization of KCNC3 are also regulated by a variety of factors, including phosphorylation and ubiquitination.

Genular Protein ID: 108118108

Symbol: KCNC3_HUMAN

Name: Potassium voltage-gated channel subfamily C member 3

UniProtKB Accession Codes:

Q14003

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 4 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 1 RefSeq 3 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10712820

Title: Kv3.3 potassium channels in lens epithelium and corneal endothelium.

PubMed ID: 10712820

DOI: 10.1006/exer.1999.0796

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

PubMed ID: 26997484

Title: Kv3.3 channels bind Hax-1 and Arp2/3 to assemble a stable local actin network that regulates channel gating.

PubMed ID: 26997484

DOI: 10.1016/j.cell.2016.02.009

PubMed ID: 22289912

Title: Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.

PubMed ID: 22289912

DOI: 10.1113/jphysiol.2012.228205

PubMed ID: 23734863

Title: Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.

PubMed ID: 23734863

DOI: 10.1042/bj20130034

PubMed ID: 25152487

Title: KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.

PubMed ID: 25152487

DOI: 10.1016/j.nbd.2014.08.020

PubMed ID: 16501573

Title: Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental nervous system phenotypes.

PubMed ID: 16501573

DOI: 10.1038/ng1758

PubMed ID: 19953606

Title: KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.

PubMed ID: 19953606

DOI: 10.1002/humu.21165

PubMed ID: 21479265

Title: Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).

PubMed ID: 21479265

DOI: 10.1371/journal.pone.0017811

PubMed ID: 25756792

Title: Functional analysis helps to define KCNC3 mutational spectrum in dutch ataxia cases.

PubMed ID: 25756792

DOI: 10.1371/journal.pone.0116599

Sequence Information:

  • Length: 757
  • Mass: 80578
  • Checksum: B44306B850DFD797
  • Sequence:
    • MLSSVCVSSF RGRQGASKQQ PAPPPQPPES PPPPPLPPQQ QQPAQPGPAA SPAGPPAPRG 
PGDRRAEPCP GLPAAAMGRH GGGGGDSGKI VINVGGVRHE TYRSTLRTLP GTRLAGLTEP 
EAAARFDYDP GADEFFFDRH PGVFAYVLNY YRTGKLHCPA DVCGPLFEEE LGFWGIDETD 
VEACCWMTYR QHRDAEEALD SFEAPDPAGA ANAANAAGAH DGGLDDEAGA GGGGLDGAGG 
ELKRLCFQDA GGGAGGPPGG AGGAGGTWWR RWQPRVWALF EDPYSSRAAR YVAFASLFFI 
LISITTFCLE THEGFIHISN KTVTQASPIP GAPPENITNV EVETEPFLTY VEGVCVVWFT 
FEFLMRITFC PDKVEFLKSS LNIIDCVAIL PFYLEVGLSG LSSKAAKDVL GFLRVVRFVR 
ILRIFKLTRH FVGLRVLGHT LRASTNEFLL LIIFLALGVL IFATMIYYAE RIGADPDDIL 
GSNHTYFKNI PIGFWWAVVT MTTLGYGDMY PKTWSGMLVG ALCALAGVLT IAMPVPVIVN 
NFGMYYSLAM AKQKLPKKKN KHIPRPPQPG SPNYCKPDPP PPPPPHPHHG SGGISPPPPI 
TPPSMGVTVA GAYPAGPHTH PGLLRGGAGG LGIMGLPPLP APGEPCPLAQ EEVIEINRAD 
PRPNGDPAAA ALAHEDCPAI DQPAMSPEDK SPITPGSRGR YSRDRACFLL TDYAPSPDGS 
IRKATGAPPL PPQDWRKPGP PSFLPDLNAN AAAWISP

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.