Details for: CLCN3

Gene ID: 1182

Symbol: CLCN3

Ensembl ID: ENSG00000109572

Description: chloride voltage-gated channel 3

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 343.7585
    Cell Significance Index: -53.4700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 234.8967
    Cell Significance Index: -59.5800
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 129.6273
    Cell Significance Index: -61.2000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 122.6071
    Cell Significance Index: -49.8100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 111.8811
    Cell Significance Index: -57.5500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 52.3492
    Cell Significance Index: -49.9800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 46.1655
    Cell Significance Index: -56.9200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 21.7649
    Cell Significance Index: -58.3100
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 17.3664
    Cell Significance Index: -53.3400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 15.3850
    Cell Significance Index: -60.7100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 10.2897
    Cell Significance Index: -22.5200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.2756
    Cell Significance Index: 118.2100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.1557
    Cell Significance Index: 135.8700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.1264
    Cell Significance Index: 163.1800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 2.1098
    Cell Significance Index: 25.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.0141
    Cell Significance Index: 404.0200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.8068
    Cell Significance Index: 108.4700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 1.6395
    Cell Significance Index: 92.0000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.5885
    Cell Significance Index: 569.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.5163
    Cell Significance Index: 273.3500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.4529
    Cell Significance Index: 67.7400
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 1.4432
    Cell Significance Index: 13.2900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.4323
    Cell Significance Index: 64.9200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 1.2321
    Cell Significance Index: 75.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9907
    Cell Significance Index: 121.8200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.8526
    Cell Significance Index: 10.5800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8248
    Cell Significance Index: 23.7700
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.7993
    Cell Significance Index: 19.1700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7054
    Cell Significance Index: 139.9800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7015
    Cell Significance Index: 485.1500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.6746
    Cell Significance Index: 35.1400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6661
    Cell Significance Index: 44.7900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.5554
    Cell Significance Index: 14.8300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5332
    Cell Significance Index: 291.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4829
    Cell Significance Index: 33.4000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4513
    Cell Significance Index: 44.6400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.3682
    Cell Significance Index: 16.2900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.3410
    Cell Significance Index: 46.8400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3256
    Cell Significance Index: 12.3300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3186
    Cell Significance Index: 11.2000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3135
    Cell Significance Index: 50.9900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3092
    Cell Significance Index: 136.7200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2971
    Cell Significance Index: 32.3200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.2804
    Cell Significance Index: 527.9600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2802
    Cell Significance Index: 7.8300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.2352
    Cell Significance Index: 4.0300
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2179
    Cell Significance Index: 5.8400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2097
    Cell Significance Index: 35.8100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2045
    Cell Significance Index: 38.9200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1528
    Cell Significance Index: 97.0400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0917
    Cell Significance Index: 169.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0789
    Cell Significance Index: 121.5100
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.0692
    Cell Significance Index: 1.9700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0571
    Cell Significance Index: 2.6800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0385
    Cell Significance Index: 0.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0166
    Cell Significance Index: 22.5100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0109
    Cell Significance Index: 8.0000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0060
    Cell Significance Index: -2.7100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0298
    Cell Significance Index: -3.5200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0301
    Cell Significance Index: -22.3200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0360
    Cell Significance Index: -22.4900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0395
    Cell Significance Index: -5.7400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0545
    Cell Significance Index: -1.1600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0580
    Cell Significance Index: -43.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0659
    Cell Significance Index: -8.4500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0697
    Cell Significance Index: -39.3100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1297
    Cell Significance Index: -27.3300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1652
    Cell Significance Index: -19.2500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1684
    Cell Significance Index: -21.7600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1852
    Cell Significance Index: -53.2800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1933
    Cell Significance Index: -10.1500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1955
    Cell Significance Index: -5.3200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.1972
    Cell Significance Index: -1.5200
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1975
    Cell Significance Index: -20.1700
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2343
    Cell Significance Index: -16.5700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2777
    Cell Significance Index: -4.1000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.3005
    Cell Significance Index: -6.5800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3312
    Cell Significance Index: -21.3700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3392
    Cell Significance Index: -38.8700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.4224
    Cell Significance Index: -48.2200
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.4590
    Cell Significance Index: -10.6100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.4845
    Cell Significance Index: -6.6100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4882
    Cell Significance Index: -36.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4886
    Cell Significance Index: -50.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.6411
    Cell Significance Index: -13.8900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.6519
    Cell Significance Index: -51.6300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.7177
    Cell Significance Index: -17.9400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.7938
    Cell Significance Index: -13.2900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.8424
    Cell Significance Index: -17.8800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.8975
    Cell Significance Index: -23.6000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.9483
    Cell Significance Index: -18.7500
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.9729
    Cell Significance Index: -59.6500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.0075
    Cell Significance Index: -10.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.0181
    Cell Significance Index: -35.3800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -1.0232
    Cell Significance Index: -19.9700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.0302
    Cell Significance Index: -32.8100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -1.0679
    Cell Significance Index: -21.4400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.0776
    Cell Significance Index: -35.2800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.1309
    Cell Significance Index: -36.2200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -1.1511
    Cell Significance Index: -24.6100

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 CLCN3 protein is a voltage-gated chloride channel that exhibits high affinity for chloride ions (Cl-). Its structure consists of six transmembrane domains, with a pore loop that facilitates chloride ion passage. The channel is regulated by voltage-dependent gating, allowing it to respond to changes in membrane potential. CLCN3 channels are characterized by their high permeability to Cl- ions, which is essential for maintaining proper ion balance and volume regulation in cells. **Pathways and Functions:** CLCN3 channels are integral to various cellular processes, including: 1. **Volume regulation**: CLCN3 channels help regulate cell volume by controlling chloride ion movement into and out of cells in response to changes in osmotic pressure. 2. **Neurotransmission**: CLCN3 channels are involved in synaptic transmission, particularly in the regulation of inhibitory neurotransmission in the nervous system. 3. **Cardiac function**: CLCN3 channels play a role in regulating cardiac function, particularly in the regulation of chloride ion movement across the cardiac membrane. 4. **Cell signaling**: CLCN3 channels can modulate cell signaling pathways, including those involved in the regulation of reactive oxygen species biosynthesis. **Clinical Significance:** Dysregulation of CLCN3 channels has been implicated in various neurological and cardiovascular disorders, including: 1. **Epilepsy**: Mutations in the CLCN3 gene have been associated with epilepsy, highlighting the importance of chloride channel function in the regulation of neuronal excitability. 2. **Cardiac arrhythmias**: CLCN3 channels have been implicated in the regulation of cardiac rhythm, and abnormalities in this gene have been linked to cardiac arrhythmias. 3. **Neuromuscular disorders**: CLCN3 channels are also involved in the regulation of muscle excitability, and abnormalities in this gene have been linked to neuromuscular disorders such as myasthenia gravis. In conclusion, the CLCN3 gene plays a critical role in regulating chloride ion movement across cell membranes, and its dysregulation has been implicated in various neurological and cardiovascular disorders. Further research is needed to fully understand the mechanisms by which CLCN3 channels regulate cellular processes and to develop effective therapeutic strategies for disorders associated with CLCN3 dysfunction.

Genular Protein ID: 1603048291

Symbol: CLCN3_HUMAN

Name: H(+)/Cl(-) exchange transporter 3

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7665160

Title: Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein.

PubMed ID: 7665160

DOI: 10.1006/geno.1995.1015

PubMed ID: 9678416

Title: Ion transporters and receptors in cDNA libraries from lens and cornea epithelia.

PubMed ID: 9678416

DOI: 10.1080/02713689808951247

PubMed ID: 11274166

Title: Regulation of human CLC-3 channels by multifunctional Ca2+/calmodulin-dependent protein kinase.

PubMed ID: 11274166

DOI: 10.1074/jbc.m009376200

PubMed ID: 11967229

Title: ClC-3B, a novel ClC-3 splicing variant that interacts with EBP50 and facilitates expression of CFTR-regulated ORCC.

PubMed ID: 11967229

DOI: 10.1096/fj.01-0845fje

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

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: 10198195

Title: Expression of CLCN voltage-gated chloride channel genes in human blood vessels.

PubMed ID: 10198195

DOI: 10.1006/jmcc.1998.0901

PubMed ID: 12471024

Title: The PDZ-binding chloride channel ClC-3B localizes to the Golgi and associates with cystic fibrosis transmembrane conductance regulator-interacting PDZ proteins.

PubMed ID: 12471024

DOI: 10.1074/jbc.m211050200

PubMed ID: 29845874

Title: CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease.

PubMed ID: 29845874

DOI: 10.1152/physrev.00047.2017

PubMed ID: 34186028

Title: Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.

PubMed ID: 34186028

DOI: 10.1016/j.ajhg.2021.06.003

Sequence Information:

  • Length: 818
  • Mass: 90966
  • Checksum: 30FF0A6A2D6EF3B8
  • Sequence:
  • MESEQLFHRG YYRNSYNSIT SASSDEELLD GAGVIMDFQT SEDDNLLDGD TAVGTHYTMT 
    NGGSINSSTH LLDLLDEPIP GVGTYDDFHT IDWVREKCKD RERHRRINSK KKESAWEMTK 
    SLYDAWSGWL VVTLTGLASG ALAGLIDIAA DWMTDLKEGI CLSALWYNHE QCCWGSNETT 
    FEERDKCPQW KTWAELIIGQ AEGPGSYIMN YIMYIFWALS FAFLAVSLVK VFAPYACGSG 
    IPEIKTILSG FIIRGYLGKW TLMIKTITLV LAVASGLSLG KEGPLVHVAC CCGNIFSYLF 
    PKYSTNEAKK REVLSAASAA GVSVAFGAPI GGVLFSLEEV SYYFPLKTLW RSFFAALVAA 
    FVLRSINPFG NSRLVLFYVE YHTPWYLFEL FPFILLGVFG GLWGAFFIRA NIAWCRRRKS 
    TKFGKYPVLE VIIVAAITAV IAFPNPYTRL NTSELIKELF TDCGPLESSS LCDYRNDMNA 
    SKIVDDIPDR PAGIGVYSAI WQLCLALIFK IIMTVFTFGI KVPSGLFIPS MAIGAIAGRI 
    VGIAVEQLAY YHHDWFIFKE WCEVGADCIT PGLYAMVGAA ACLGGVTRMT VSLVVIVFEL 
    TGGLEYIVPL MAAVMTSKWV GDAFGREGIY EAHIRLNGYP FLDAKEEFTH TTLAADVMRP 
    RRNDPPLAVL TQDNMTVDDI ENMINETSYN GFPVIMSKES QRLVGFALRR DLTIAIESAR 
    KKQEGIVGSS RVCFAQHTPS LPAESPRPLK LRSILDMSPF TVTDHTPMEI VVDIFRKLGL 
    RQCLVTHNGR LLGIITKKDI LRHMAQTANQ DPASIMFN

Genular Protein ID: 2768621752

Symbol: B3KXK0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 725
  • Mass: 80529
  • Checksum: 3BB035171445CF06
  • Sequence:
  • MDASSDPYLP YDGGGDNIPL RELHKRGTHY TMTNGGSINS STHLLDLLDE PIPGVGTYDD 
    FHTIDWVREK CKDRERHRRI NSKKKESAWE MTKSLYDAWS GWLVVTLTGL ASGALAGLID 
    IAADWMTDLK EGICLSALWY NHEQCCWGSN ETTFEERDKC PQWKTWAELI IGQAEGPGSY 
    IMNYIMYIFW ALSFAFLAVS LVKVFAPYAC GSGIPEIKTI LSGFIIRGYL GKWTLMIKTI 
    TLVLAVASGL SLGKEGPLVH VACCCGNIFS YLFPKYSTNE AKKREVLSAA SAAGVSVAFG 
    APIGGVLFSL EEVSYYFPLK TLWRSFFAAL VAAFVLRSIN PFGNSRLVLF YVEYHTPWYL 
    FELFPFILLG VFGGLWGAFF IRANIAWCRR RKSTKFGKYP VLEVIIVAAI TAVIAFPNPY 
    TRLNTSELIK ELFTDCGPLE SSSLCDYRND MNASKIVDDI PDRPAGIGVY SAIWQLCLAL 
    IFKIIMTVFT FGIKVPSGLF IPSMAIGAIA GRIVGIAVEQ LAYYHHDWFI FKEWCEVGAD 
    CITPGLYAMV GAAACLGGVT RMTVSLVVIV FELTGGLEYI VPLMAAVMTS KWVGDAFGRE 
    GIYEAHIRLN GYPFLDAKEE FTHTTLAADV MRPRRNDPPL AVLTQDNMTV DDIENMINET 
    SYNGFPVIMS KESQRLVGFA LRRDLTIAIE SARKKQEGIV GSSRVCFAQH TPSLPAESPR 
    PLKLR

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.