Details for: KCNC2

Gene ID: 3747

Symbol: KCNC2

Ensembl ID: ENSG00000166006

Description: potassium voltage-gated channel subfamily C member 2

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: interneuron (CL0000099)
    Fold Change: 7.16
    Marker Score: 3272
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 5.11
    Marker Score: 21327
  • Cell Name: granule cell (CL0000120)
    Fold Change: 3.22
    Marker Score: 24278
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 2.91
    Marker Score: 6693
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.84
    Marker Score: 56522
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.83
    Marker Score: 42274
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.82
    Marker Score: 21602
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.61
    Marker Score: 10803
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.6
    Marker Score: 1088
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.58
    Marker Score: 97968
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.56
    Marker Score: 2576
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.45
    Marker Score: 90544
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.33
    Marker Score: 8998
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 2.31
    Marker Score: 6582
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.13
    Marker Score: 8687
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 2.06
    Marker Score: 10794
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.05
    Marker Score: 125992
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.97
    Marker Score: 2196
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.94
    Marker Score: 531
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.8
    Marker Score: 15485
  • Cell Name: glial cell (CL0000125)
    Fold Change: 1.79
    Marker Score: 1964
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.69
    Marker Score: 3432
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.61
    Marker Score: 3053
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 1.55
    Marker Score: 1928.5
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 1.37
    Marker Score: 2836
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.34
    Marker Score: 12632
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.24
    Marker Score: 2515
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.14
    Marker Score: 682
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.13
    Marker Score: 7519
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.08
    Marker Score: 10283
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.06
    Marker Score: 10968
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.05
    Marker Score: 609
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.03
    Marker Score: 578
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71810
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48035
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.99
    Marker Score: 2514
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30405
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.93
    Marker Score: 1701
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.93
    Marker Score: 295
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5290
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.85
    Marker Score: 492
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1265
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.75
    Marker Score: 862
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.74
    Marker Score: 1243
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.73
    Marker Score: 1177
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.72
    Marker Score: 11316
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.68
    Marker Score: 406
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.68
    Marker Score: 1046
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.67
    Marker Score: 320
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.65
    Marker Score: 340
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.64
    Marker Score: 552
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.63
    Marker Score: 2934
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.63
    Marker Score: 503
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.63
    Marker Score: 472
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.62
    Marker Score: 13287
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.61
    Marker Score: 234
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.58
    Marker Score: 3098
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.57
    Marker Score: 558.5
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.57
    Marker Score: 705
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.55
    Marker Score: 246
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.54
    Marker Score: 256
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.5
    Marker Score: 475.5
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.49
    Marker Score: 156
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.46
    Marker Score: 168
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.46
    Marker Score: 409
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.44
    Marker Score: 290
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.44
    Marker Score: 1472
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.44
    Marker Score: 417
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.43
    Marker Score: 149
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.42
    Marker Score: 505
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.41
    Marker Score: 132
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.41
    Marker Score: 13708
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.4
    Marker Score: 310
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.36
    Marker Score: 161
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.36
    Marker Score: 871
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.33
    Marker Score: 371
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 0.33
    Marker Score: 580
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.32
    Marker Score: 98
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.29
    Marker Score: 688
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.29
    Marker Score: 143
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.26
    Marker Score: 628
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.26
    Marker Score: 2620
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.26
    Marker Score: 76
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.24
    Marker Score: 74
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.24
    Marker Score: 211
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.24
    Marker Score: 61
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.23
    Marker Score: 84
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.23
    Marker Score: 134
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.22
    Marker Score: 639
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.22
    Marker Score: 649
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.22
    Marker Score: 82
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.21
    Marker Score: 815
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: 0.21
    Marker Score: 82
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.21
    Marker Score: 45
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.2
    Marker Score: 57
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.2
    Marker Score: 115

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Other Information

**Key characteristics:** * KCNC2 is a transmembrane protein that is expressed in the plasma membrane. * It is a potassium channel that is permeable to potassium ions. * It is a key regulator of insulin secretion in the pancreatic islet. * It is also involved in a variety of other cellular processes, including the regulation of metabolism, the response to light intensity, and the development of the optic nerve. **Pathways and functions:** * KCNC2 is involved in a variety of cellular processes, including the regulation of insulin secretion, the response to amine, the response to ethanol, the response to light intensity, and the development of the optic nerve. * In the pancreas, KCNC2 is expressed in the alpha cells and is responsible for regulating insulin secretion. * It is also expressed in the beta cells, where it helps to maintain the resting membrane potential of the cell. * In the retina, KCNC2 is expressed in the rod and cone cells, where it is involved in the detection of light. * In the nervous system, KCNC2 is expressed in a variety of neurons, including interneurons, GABAergic neurons, and granule cells. * It is involved in the regulation of synaptic transmission, neuronal excitability, and the development of the central nervous system. **Clinical significance:** Mutations in KCNC2 have been linked to a number of human diseases, including diabetes, obesity, and cancer. In diabetes, mutations in KCNC2 are associated with the development of insulin resistance and hyperglycemia. In obesity, mutations in KCNC2 are associated with the development of insulin resistance and obesity-related disorders. In cancer, mutations in KCNC2 are associated with the development of drug resistance.

Genular Protein ID: 807610807

Symbol: KCNC2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q96PR1 B7Z231 F5H030 J3KPP5 Q4LE77 Q86W09 Q8N1V9 Q96PR0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 6 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EMBL 17 EPD 1 Ensembl 7 ExpressionAtlas 1 GO 39 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRINTS 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 5 RNAct 1 Reactome 2 RefSeq 7 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8111118

Title: Localization of Shaw-related K+ channel genes on mouse and human chromosomes.

PubMed ID: 8111118

DOI: 10.1007/bf00357794

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

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: 10414303

Title: Contributions of Kv3 channels to neuronal excitability.

PubMed ID: 10414303

DOI: 10.1111/j.1749-6632.1999.tb11295.x

PubMed ID: 11506885

Title: Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing.

PubMed ID: 11506885

DOI: 10.1016/s0166-2236(00)01892-0

PubMed ID: 15709110

Title: Stichodactyla helianthus peptide, a pharmacological tool for studying Kv3.2 channels.

PubMed ID: 15709110

DOI: 10.1124/mol.105.011064

PubMed ID: 23475819

Title: Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.

PubMed ID: 23475819

DOI: 10.1136/jnnp-2012-304555

PubMed ID: 31972370

Title: A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy.

PubMed ID: 31972370

DOI: 10.1016/j.ejmg.2020.103848

PubMed ID: 32392612

Title: Whole-exome sequencing in NF1-related West syndrome leads to the identification of KCNC2 as a novel candidate gene for epilepsy.

PubMed ID: 32392612

DOI: 10.1055/s-0040-1710524

PubMed ID: 34448338

Title: A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.

PubMed ID: 34448338

DOI: 10.1002/ajmg.a.62455

PubMed ID: 36090251

Title: Emerging evidence of genotype-phenotype associations of developmental and epileptic encephalopathy due to KCNC2 mutation: Identification of novel R405G.

PubMed ID: 36090251

DOI: 10.3389/fnmol.2022.950255

PubMed ID: 35314505

Title: Spectrum of phenotypic, genetic, and functional characteristics in patients with epilepsy with KCNC2 pathogenic variants.

PubMed ID: 35314505

DOI: 10.1212/wnl.0000000000200660

Sequence Information:

  • Length: 638
  • Mass: 70226
  • Checksum: 211CAF8395A58C5D
  • Sequence:
    • MGKIENNERV ILNVGGTRHE TYRSTLKTLP GTRLALLASS EPPGDCLTTA GDKLQPSPPP 
LSPPPRAPPL SPGPGGCFEG GAGNCSSRGG RASDHPGGGR EFFFDRHPGV FAYVLNYYRT 
GKLHCPADVC GPLFEEELAF WGIDETDVEP CCWMTYRQHR DAEEALDIFE TPDLIGGDPG 
DDEDLAAKRL GIEDAAGLGG PDGKSGRWRR LQPRMWALFE DPYSSRAARF IAFASLFFIL 
VSITTFCLET HEAFNIVKNK TEPVINGTSV VLQYEIETDP ALTYVEGVCV VWFTFEFLVR 
IVFSPNKLEF IKNLLNIIDF VAILPFYLEV GLSGLSSKAA KDVLGFLRVV RFVRILRIFK 
LTRHFVGLRV LGHTLRASTN EFLLLIIFLA LGVLIFATMI YYAERVGAQP NDPSASEHTQ 
FKNIPIGFWW AVVTMTTLGY GDMYPQTWSG MLVGALCALA GVLTIAMPVP VIVNNFGMYY 
SLAMAKQKLP RKRKKHIPPA PQASSPTFCK TELNMACNST QSDTCLGKDN RLLEHNRSVL 
SGDDSTGSEP PLSPPERLPI RRSSTRDKNR RGETCFLLTT GDYTCASDGG IRKGYEKSRS 
LNNIAGLAGN ALRLSPVTSP YNSPCPLRRS RSPIPSIL

Genular Protein ID: 1968602133

Symbol: A0A3B3ISR9_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A3B3ISR9

Database IDs:

ARBA 11 AlphaFoldDB 1 Bgee 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 3 Gene3D 2 GeneTree 1 HGNC 1 InterPro 7 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 3 PeptideAtlas 1 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 4 SAM 2 SMART 2 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

Sequence Information:

  • Length: 612
  • Mass: 67841
  • Checksum: 9FEF1FA13E5F98E9
  • Sequence:
    • MGKIENNERV ILNVGGTRHE TYRSTLKTLP GTRLALLASS EPPGDCLTTA GDKLQPSPPP 
LSPPPRAPPL SPGPGGCFEG GAGNCSSRGG RASDHPGGGR EFFFDRHPGV FAYVLNYYRT 
GKLHCPADVC GPLFEEELAF WGIDETDVEP CCWMTYRQHR DAEEALDIFE TPDLIGGDPG 
DDEDLAAKRL GIEDAAGLGG PDGKSGRWRR LQPRMWALFE DPYSSRAARF IAFASLFFIL 
VSITTFCLET HEAFNIVKNK TEPVINGTSV VLQYEIETDP ALTYVEGVCV VWFTFEFLVR 
IVFSPNKLEF IKNLLNIIDF VAILPFYLEV GLSGLSSKAA KDVLGFLRVV RFVRILRIFK 
LTRHFVGLRV LGHTLRASTN EFLLLIIFLA LGVLIFATMI YYAERVGAQP NDPSASEHTQ 
FKNIPIGFWW AVVTMTTLGY GDMYPQTWSG MLVGALCALA GVLTIAMPVP VIVNNFGMYY 
SLAMAKQKLP RKRKKHIPPA PQASSPTFCK TELNMACNST QSDTCLGKDN RLLEHNRSVL 
PLPHGAMHLN LIHKKQLFKK NGCLHFKGLN SKQCYQVTTV QEVSRHYHPQ KGSPSDALVP 
ETKTEEGKHV SY

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.