Details for: CLCN6

Gene ID: 1185

Symbol: CLCN6

Ensembl ID: ENSG00000011021

Description: chloride voltage-gated channel 6

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: 120.2866
    Cell Significance Index: -18.7100
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 73.7650
    Cell Significance Index: -18.7100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 40.3316
    Cell Significance Index: -16.3900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 17.1879
    Cell Significance Index: -16.4100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.4750
    Cell Significance Index: -19.0800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.9188
    Cell Significance Index: -19.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.6964
    Cell Significance Index: -8.0900
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 1.4995
    Cell Significance Index: 24.7100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1487
    Cell Significance Index: 218.6100
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.8429
    Cell Significance Index: 10.4600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8063
    Cell Significance Index: 21.6100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7227
    Cell Significance Index: 259.2100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6700
    Cell Significance Index: 134.4000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6275
    Cell Significance Index: 124.5200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5573
    Cell Significance Index: 90.6400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4730
    Cell Significance Index: 55.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.4509
    Cell Significance Index: 34.6100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.3951
    Cell Significance Index: 8.5600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3296
    Cell Significance Index: 8.2400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3282
    Cell Significance Index: 227.0000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3184
    Cell Significance Index: 34.6400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2961
    Cell Significance Index: 8.5300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2945
    Cell Significance Index: 18.1000
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.2887
    Cell Significance Index: 16.2000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2822
    Cell Significance Index: 16.9400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2698
    Cell Significance Index: 7.7000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2406
    Cell Significance Index: 5.7700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2144
    Cell Significance Index: 9.7200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.1966
    Cell Significance Index: 13.2200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1518
    Cell Significance Index: 10.5000
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1402
    Cell Significance Index: 3.0700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1324
    Cell Significance Index: 6.8800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1177
    Cell Significance Index: 11.6400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0940
    Cell Significance Index: 11.0800
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.0774
    Cell Significance Index: 1.5100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0731
    Cell Significance Index: 39.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0724
    Cell Significance Index: 13.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0662
    Cell Significance Index: 124.6100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0606
    Cell Significance Index: 2.1300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0585
    Cell Significance Index: 52.8000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0472
    Cell Significance Index: 72.6600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0399
    Cell Significance Index: 5.4800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0393
    Cell Significance Index: 4.8300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0371
    Cell Significance Index: 23.5400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0367
    Cell Significance Index: 67.7500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0338
    Cell Significance Index: 1.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0246
    Cell Significance Index: 33.4600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0234
    Cell Significance Index: 10.3300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0208
    Cell Significance Index: 1.0900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0204
    Cell Significance Index: 0.5700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0179
    Cell Significance Index: 8.1400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0140
    Cell Significance Index: 0.8800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0115
    Cell Significance Index: 0.2500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0074
    Cell Significance Index: 0.2800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0072
    Cell Significance Index: 0.4700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0148
    Cell Significance Index: -10.9700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0164
    Cell Significance Index: -2.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0167
    Cell Significance Index: -12.6200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0175
    Cell Significance Index: -12.8600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0222
    Cell Significance Index: -0.5700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0266
    Cell Significance Index: -0.7100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0297
    Cell Significance Index: -16.7400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0351
    Cell Significance Index: -21.9200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0449
    Cell Significance Index: -2.3400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0466
    Cell Significance Index: -5.9800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0565
    Cell Significance Index: -16.2500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0614
    Cell Significance Index: -10.4900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0615
    Cell Significance Index: -6.2900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0976
    Cell Significance Index: -20.5500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1011
    Cell Significance Index: -13.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1109
    Cell Significance Index: -5.1700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1182
    Cell Significance Index: -13.5400
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: -0.1203
    Cell Significance Index: -1.8000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1268
    Cell Significance Index: -13.2000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1275
    Cell Significance Index: -1.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1363
    Cell Significance Index: -6.4100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1472
    Cell Significance Index: -3.1400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1534
    Cell Significance Index: -11.4300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.1572
    Cell Significance Index: -3.2600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1772
    Cell Significance Index: -1.4600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1914
    Cell Significance Index: -13.5400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1985
    Cell Significance Index: -5.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2127
    Cell Significance Index: -13.0400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2239
    Cell Significance Index: -17.7400
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2377
    Cell Significance Index: -3.0000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2580
    Cell Significance Index: -13.0400
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2618
    Cell Significance Index: -3.8700
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.2692
    Cell Significance Index: -3.6300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2731
    Cell Significance Index: -4.6800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2939
    Cell Significance Index: -4.0100
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.3043
    Cell Significance Index: -8.1400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3053
    Cell Significance Index: -8.3100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.3091
    Cell Significance Index: -8.8600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3237
    Cell Significance Index: -6.8700
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3436
    Cell Significance Index: -6.3500
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3488
    Cell Significance Index: -5.0000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3601
    Cell Significance Index: -11.4700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3644
    Cell Significance Index: -11.9300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3651
    Cell Significance Index: -7.3300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3672
    Cell Significance Index: -11.7600

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:** CLCN6 is a transmembrane protein that belongs to the chloride voltage-gated channel family. It is characterized by its ability to transport chloride ions (Cl-) across cellular membranes in response to changes in membrane voltage. CLCN6 is specifically expressed in neurons, cardiac muscle cells, and certain types of immune cells, highlighting its widespread presence in the body. The protein's structure consists of six transmembrane domains, which provide the necessary framework for chloride ion transport. **Pathways and Functions:** CLCN6 is involved in several critical cellular pathways, including: 1. **Cell volume homeostasis:** CLCN6 helps regulate chloride ion transport to maintain proper cell volume, which is essential for cellular function and survival. 2. **Neuronal excitability:** CLCN6 modulates the electrical properties of neurons, influencing their excitability and synaptic transmission. 3. **Cardiac muscle function:** CLCN6 plays a crucial role in regulating the electrical properties of cardiac muscle cells, which is essential for maintaining proper heart rhythm and function. 4. **Immune cell function:** CLCN6 is expressed in certain types of immune cells, where it may play a role in regulating immune responses and modulating inflammation. **Clinical Significance:** Dysregulation of CLCN6 has been implicated in various neurological and cardiovascular diseases, including: 1. **Epilepsy:** Mutations in CLCN6 have been associated with certain forms of epilepsy, highlighting its role in regulating neuronal excitability. 2. **Arrhythmias:** CLCN6 dysfunction has been linked to certain types of arrhythmias, underscoring its importance in maintaining proper cardiac rhythm. 3. **Neurodegenerative diseases:** CLCN6 has been implicated in the pathogenesis of neurodegenerative diseases, such as Alzheimer's and Parkinson's, where it may contribute to neuronal excitotoxicity and synaptic dysfunction. 4. **Immune-mediated disorders:** CLCN6 has been linked to certain immune-mediated disorders, where its dysregulation may contribute to immune dysbalance and inflammation. In conclusion, CLCN6 is a critical ion channel protein that plays a vital role in maintaining cellular homeostasis, regulating neuronal excitability, and modulating cardiac muscle function. Its dysregulation has been implicated in various neurological and cardiovascular diseases, highlighting the need for further research into its mechanisms of action and potential therapeutic targets.

Genular Protein ID: 701380319

Symbol: CLCN6_HUMAN

Name: Chloride channel protein 6

UniProtKB Accession Codes:

P51797 A8K1T4 B4DGT7 F8W9R3 O60818 O60819 O60820 O60821 P78520 P78521 Q17R81 Q5SNW2 Q5SNW3 Q5SNX1 Q5SNX2 Q5SNX3 Q99427 Q99428 Q99429

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 7 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 25 EMDB 3 Ensembl 3 ExpressionAtlas 1 GO 14 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 RNAct 1 Reactome 2 RefSeq 2 Rhea 2 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8543009

Title: ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family.

PubMed ID: 8543009

DOI: 10.1016/0014-5793(95)01298-2

PubMed ID: 9224655

Title: Alternative splicing of ClC-6 (a member of the ClC chloride-channel family) transcripts generates three truncated isoforms one of which, ClC-6c, is kidney-specific.

PubMed ID: 9224655

DOI: 10.1042/bj3250269

PubMed ID: 10500249

Title: Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes.

PubMed ID: 10500249

DOI: 10.1016/s0167-4781(99)00128-1

PubMed ID: 7584044

Title: Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1.

PubMed ID: 7584044

DOI: 10.1093/dnares/1.5.223

PubMed ID: 12168954

Title: Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

PubMed ID: 12168954

DOI: 10.1093/dnares/9.3.99

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 17534424

Title: Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains.

PubMed ID: 17534424

DOI: 10.1371/journal.pone.0000474

PubMed ID: 20466723

Title: The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression.

PubMed ID: 20466723

DOI: 10.1074/jbc.m110.125971

PubMed ID: 33217309

Title: A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

PubMed ID: 33217309

DOI: 10.1016/j.ajhg.2020.11.004

Sequence Information:

  • Length: 869
  • Mass: 97289
  • Checksum: D625F0C2189EB6F7
  • Sequence:
    • MAGCRGSLCC CCRWCCCCGE RETRTPEELT ILGETQEEED EILPRKDYES LDYDRCINDP 
YLEVLETMDN KKGRRYEAVK WMVVFAIGVC TGLVGLFVDF FVRLFTQLKF GVVQTSVEEC 
SQKGCLALSL LELLGFNLTF VFLASLLVLI EPVAAGSGIP EVKCYLNGVK VPGIVRLRTL 
LCKVLGVLFS VAGGLFVEKE GPMIHSGSVV GAGLPQFQSI SLRKIQFNFP YFRSDRDKRD 
FVSAGAAAGV AAAFGAPIGG TLFSLEEGSS FWNQGLTWKV LFCSMSATFT LNFFRSGIQF 
GSWGSFQLPG LLNFGEFKCS DSDKKCHLWT AMDLGFFVVM GVIGGLLGAT FNCLNKRLAK 
YRMRNVHPKP KLVRVLESLL VSLVTTVVVF VASMVLGECR QMSSSSQIGN DSFQLQVTED 
VNSSIKTFFC PNDTYNDMAT LFFNPQESAI LQLFHQDGTF SPVTLALFFV LYFLLACWTY 
GISVPSGLFV PSLLCGAAFG RLVANVLKSY IGLGHIYSGT FALIGAAAFL GGVVRMTISL 
TVILIESTNE ITYGLPIMVT LMVAKWTGDF FNKGIYDIHV GLRGVPLLEW ETEVEMDKLR 
ASDIMEPNLT YVYPHTRIQS LVSILRTTVH HAFPVVTENR GNEKEFMKGN QLISNNIKFK 
KSSILTRAGE QRKRSQSMKS YPSSELRNMC DEHIASEEPA EKEDLLQQML ERRYTPYPNL 
YPDQSPSEDW TMEERFRPLT FHGLILRSQL VTLLVRGVCY SESQSSASQP RLSYAEMAED 
YPRYPDIHDL DLTLLNPRMI VDVTPYMNPS PFTVSPNTHV SQVFNLFRTM GLRHLPVVNA 
VGEIVGIITR HNLTYEFLQA RLRQHYQTI

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.