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)

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

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 117.7579
    Cell Significance Index: -47.8400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 8.9557
    Cell Significance Index: 111.0800
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 5.9221
    Cell Significance Index: 76.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 4.7488
    Cell Significance Index: 1703.3200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 3.4875
    Cell Significance Index: 214.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 3.3548
    Cell Significance Index: 225.5800
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 3.2436
    Cell Significance Index: 26.1900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.8044
    Cell Significance Index: 562.5500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.2182
    Cell Significance Index: 1534.1700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 2.2055
    Cell Significance Index: 18.2100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 1.7775
    Cell Significance Index: 42.6300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.4191
    Cell Significance Index: 18.9300
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.9776
    Cell Significance Index: 12.1900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.5421
    Cell Significance Index: 10.7200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.5190
    Cell Significance Index: 14.8100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.3534
    Cell Significance Index: 4.4600
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.3069
    Cell Significance Index: 2.9200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.0316
    Cell Significance Index: 0.6400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.0113
    Cell Significance Index: 0.2400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0190
    Cell Significance Index: -34.9900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0219
    Cell Significance Index: -41.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0231
    Cell Significance Index: -35.6300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0251
    Cell Significance Index: -0.3600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0261
    Cell Significance Index: -35.4900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0373
    Cell Significance Index: -0.9300
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0542
    Cell Significance Index: -1.1700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0551
    Cell Significance Index: -40.8300
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0594
    Cell Significance Index: -0.7500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0689
    Cell Significance Index: -43.7900
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0697
    Cell Significance Index: -3.0300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0780
    Cell Significance Index: -43.9700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0869
    Cell Significance Index: -39.4300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0945
    Cell Significance Index: -2.6400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0960
    Cell Significance Index: -59.9800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.1082
    Cell Significance Index: -47.8300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1179
    Cell Significance Index: -33.9300
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1234
    Cell Significance Index: -1.4400
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.1330
    Cell Significance Index: -1.5900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1457
    Cell Significance Index: -7.6500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1498
    Cell Significance Index: -1.4200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1827
    Cell Significance Index: -1.9900
  • Cell Name: paneth cell (CL0000510)
    Fold Change: -0.2001
    Cell Significance Index: -2.0700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2116
    Cell Significance Index: -44.5700
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: -0.2347
    Cell Significance Index: -2.0300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2386
    Cell Significance Index: -4.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.2415
    Cell Significance Index: -43.5400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2485
    Cell Significance Index: -34.1200
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2592
    Cell Significance Index: -8.4900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2773
    Cell Significance Index: -47.3500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.2894
    Cell Significance Index: -57.4300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2966
    Cell Significance Index: -43.1100
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.3269
    Cell Significance Index: -3.2900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.3578
    Cell Significance Index: -44.0000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.3614
    Cell Significance Index: -46.6900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3749
    Cell Significance Index: -2.5400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3915
    Cell Significance Index: -44.8500
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.3971
    Cell Significance Index: -3.5900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3986
    Cell Significance Index: -22.3700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4157
    Cell Significance Index: -30.9800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4233
    Cell Significance Index: -44.0800
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.5081
    Cell Significance Index: -10.0000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.5353
    Cell Significance Index: -41.0800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5800
    Cell Significance Index: -9.9400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6416
    Cell Significance Index: -22.4800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.6660
    Cell Significance Index: -13.2800
  • Cell Name: granule cell (CL0000120)
    Fold Change: -0.6706
    Cell Significance Index: -7.6400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.6725
    Cell Significance Index: -47.5600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.7246
    Cell Significance Index: -45.6700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.7350
    Cell Significance Index: -23.4100
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.7901
    Cell Significance Index: -8.2300
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.8234
    Cell Significance Index: -20.5400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.9423
    Cell Significance Index: -44.2900
  • Cell Name: secretory cell (CL0000151)
    Fold Change: -0.9979
    Cell Significance Index: -6.9200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -1.0133
    Cell Significance Index: -45.9300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -1.0249
    Cell Significance Index: -47.7900
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: -1.0301
    Cell Significance Index: -9.4200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.0395
    Cell Significance Index: -38.1600
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.0720
    Cell Significance Index: -47.4200
  • Cell Name: interneuron (CL0000099)
    Fold Change: -1.1378
    Cell Significance Index: -13.2900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -1.1455
    Cell Significance Index: -40.2500
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -1.1898
    Cell Significance Index: -15.8600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -1.2078
    Cell Significance Index: -29.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.2597
    Cell Significance Index: -47.7000
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.2737
    Cell Significance Index: -27.2300
  • Cell Name: intratelencephalic-projecting glutamatergic cortical neuron (CL4023008)
    Fold Change: -1.2849
    Cell Significance Index: -13.2100
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: -1.2908
    Cell Significance Index: -2.9100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.2993
    Cell Significance Index: -45.1500
  • Cell Name: medial ganglionic eminence derived GABAergic cortical interneuron (CL4023069)
    Fold Change: -1.3303
    Cell Significance Index: -12.5700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.3736
    Cell Significance Index: -23.7500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -1.3838
    Cell Significance Index: -30.3000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.3914
    Cell Significance Index: -40.0900
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.3992
    Cell Significance Index: -28.4700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -1.4317
    Cell Significance Index: -38.9700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -1.4873
    Cell Significance Index: -47.0400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.6130
    Cell Significance Index: -40.3200
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -1.6131
    Cell Significance Index: -40.2900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.6173
    Cell Significance Index: -46.3600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.6184
    Cell Significance Index: -47.6700
  • Cell Name: smooth muscle cell of the pulmonary artery (CL0002591)
    Fold Change: -1.6540
    Cell Significance Index: -14.0400
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -1.7041
    Cell Significance Index: -20.0800

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:** 1. **Gene structure:** KCNC2 is a single-copy gene that encodes a protein with 6 transmembrane domains and 2 pore-forming domains. 2. **Expression:** KCNC2 is widely expressed in the nervous system, with significant expression in interneurons, GABAergic neurons, granule cells, macroglial cells, and retinal ganglion cells. 3. **Function:** KCNC2 is a subunit of voltage-gated potassium channels, which regulate the electrical activity of neurons and muscle cells. 4. **Regulation:** KCNC2 is regulated by various signaling pathways, including those involving G-proteins, calcium-calmodulin, and protein kinases. **Pathways and Functions:** 1. **Voltage-gated potassium channel activity:** KCNC2 is a subunit of voltage-gated potassium channels, which play a critical role in regulating the electrical activity of neurons and muscle cells. 2. **Insulin secretion regulation:** KCNC2 is involved in the regulation of insulin secretion in pancreatic beta cells, and its dysregulation has been implicated in type 2 diabetes. 3. **Energy metabolism regulation:** KCNC2 is involved in the regulation of energy metabolism in the brain, and its dysregulation has been implicated in metabolic disorders such as obesity and insulin resistance. 4. **Synaptic transmission regulation:** KCNC2 is involved in the regulation of synaptic transmission, and its dysregulation has been implicated in neurological disorders such as epilepsy and Parkinson's disease. 5. **Nitric oxide signaling:** KCNC2 is involved in the regulation of nitric oxide signaling pathways, which play a critical role in various physiological processes, including vasodilation and neurotransmission. **Clinical Significance:** 1. **Neurological disorders:** KCNC2 has been implicated in various neurological disorders, including epilepsy, Parkinson's disease, and amyotrophic lateral sclerosis (ALS). 2. **Metabolic disorders:** KCNC2 has been implicated in metabolic disorders, including type 2 diabetes and obesity. 3. **Cancer:** KCNC2 has been implicated in cancer, including glioblastoma and pancreatic cancer. 4. **Therapeutic targets:** KCNC2 is a potential therapeutic target for the treatment of various neurological and metabolic disorders. In conclusion, KCNC2 is a crucial regulator of potassium channels in the brain and beyond. Its dysregulation has been implicated in various neurological and metabolic disorders, highlighting its importance as a potential therapeutic target. Further research is needed to fully understand the role of KCNC2 in human disease and to develop effective therapeutic strategies for its modulation.

Genular Protein ID: 807610807

Symbol: KCNC2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

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:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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. 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.