Gene CLCN6 - ENSG00000011021 | NCBI Gene ID: 1185

Details for: CLCN6

Gene ID: 1185

Symbol: CLCN6

Ensembl ID: ENSG00000011021

Description: chloride voltage-gated channel 6

Associated with

Disease
(R-HSA-1643685)
Diseases of signal transduction by growth factor receptors and second messengers
(R-HSA-5663202)
Ion channel transport
(R-HSA-983712)
Oncogenic mapk signaling
(R-HSA-6802957)
Signaling by braf and raf1 fusions
(R-HSA-6802952)
Stimuli-sensing channels
(R-HSA-2672351)
Transport of small molecules
(R-HSA-382551)
Antiporter activity
(GO:0015297)
Atp binding
(GO:0005524)
Cell volume homeostasis
(GO:0006884)
Chloride transmembrane transport
(GO:1902476)
Chloride transmembrane transporter activity
(GO:0015108)
Chloride transport
(GO:0006821)
Endosome membrane
(GO:0010008)
Intracellular membrane-bounded organelle
(GO:0043231)
Late endosome membrane
(GO:0031902)
Lysosomal membrane
(GO:0005765)
Membrane
(GO:0016020)
Monoatomic ion transmembrane transport
(GO:0034220)
Response to mechanical stimulus
(GO:0009612)
Signal transduction
(GO:0007165)
Voltage-gated chloride channel activity
(GO:0005247)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: neuron (CL0000540)
Fold Change: 1.29
Marker Score: 5238
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 1.28
Marker Score: 4965
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 1.22
Marker Score: 12620
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.2
Marker Score: 18730
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 1.2
Marker Score: 45450
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.18
Marker Score: 10159
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 1.16
Marker Score: 486
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.15
Marker Score: 70995
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.14
Marker Score: 2327
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.1
Marker Score: 10492
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 1.08
Marker Score: 8311
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 1.08
Marker Score: 16163
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.08
Marker Score: 1667
Cell Name: germ cell (CL0000586)
Fold Change: 1.05
Marker Score: 1828
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 1.05
Marker Score: 9842
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 1.04
Marker Score: 20681
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 1
Marker Score: 36833
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71770
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 47994
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30404
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 0.97
Marker Score: 566
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.96
Marker Score: 3986
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.95
Marker Score: 490
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2409
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.94
Marker Score: 444
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 0.94
Marker Score: 256
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.93
Marker Score: 3881
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.91
Marker Score: 2152
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.91
Marker Score: 533
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2728
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.89
Marker Score: 5052
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 0.88
Marker Score: 18817
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5295
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.87
Marker Score: 313
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 0.85
Marker Score: 981
Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.84
Marker Score: 1013
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.82
Marker Score: 263
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 0.79
Marker Score: 871
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.78
Marker Score: 1263
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.77
Marker Score: 311
Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.76
Marker Score: 1023
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.75
Marker Score: 570
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.74
Marker Score: 3100
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.74
Marker Score: 352
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.74
Marker Score: 381
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 0.73
Marker Score: 1609.5
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.73
Marker Score: 291
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.72
Marker Score: 4351
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.72
Marker Score: 211
Cell Name: brush cell (CL0002204)
Fold Change: 0.71
Marker Score: 652
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 0.68
Marker Score: 215
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.68
Marker Score: 212
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.68
Marker Score: 173
Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 0.64
Marker Score: 360
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.64
Marker Score: 383
Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: 0.6
Marker Score: 10607
Cell Name: lens fiber cell (CL0011004)
Fold Change: 0.59
Marker Score: 186.5
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 0.59
Marker Score: 225
Cell Name: Leydig cell (CL0000178)
Fold Change: 0.56
Marker Score: 603
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 0.56
Marker Score: 177
Cell Name: astrocyte (CL0000127)
Fold Change: 0.56
Marker Score: 481
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.54
Marker Score: 432
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 0.54
Marker Score: 1284
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 0.54
Marker Score: 429
Cell Name: epicardial adipocyte (CL1000309)
Fold Change: 0.53
Marker Score: 257
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.52
Marker Score: 135
Cell Name: regular atrial cardiac myocyte (CL0002129)
Fold Change: 0.5
Marker Score: 1795
Cell Name: regular ventricular cardiac myocyte (CL0002131)
Fold Change: 0.5
Marker Score: 11188
Cell Name: central nervous system macrophage (CL0000878)
Fold Change: 0.5
Marker Score: 247
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 0.5
Marker Score: 288
Cell Name: ependymal cell (CL0000065)
Fold Change: 0.49
Marker Score: 171
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 0.48
Marker Score: 165
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 0.47
Marker Score: 283
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.47
Marker Score: 951
Cell Name: neuronal receptor cell (CL0000006)
Fold Change: 0.47
Marker Score: 207
Cell Name: primordial germ cell (CL0000670)
Fold Change: 0.46
Marker Score: 575
Cell Name: lactocyte (CL0002325)
Fold Change: 0.45
Marker Score: 7203
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.45
Marker Score: 295
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 0.44
Marker Score: 542
Cell Name: epithelial cell of proximal tubule (CL0002306)
Fold Change: 0.44
Marker Score: 1549
Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
Fold Change: 0.43
Marker Score: 462
Cell Name: renal principal cell (CL0005009)
Fold Change: 0.43
Marker Score: 329
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 0.42
Marker Score: 817
Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.42
Marker Score: 2503.5
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.42
Marker Score: 602
Cell Name: fat cell (CL0000136)
Fold Change: 0.42
Marker Score: 234
Cell Name: melanocyte (CL0000148)
Fold Change: 0.41
Marker Score: 168
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.41
Marker Score: 375
Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 0.41
Marker Score: 1506
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 0.4
Marker Score: 680
Cell Name: cardiac neuron (CL0010022)
Fold Change: 0.4
Marker Score: 500
Cell Name: granulosa cell (CL0000501)
Fold Change: 0.4
Marker Score: 4000
Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.39
Marker Score: 13144
Cell Name: ciliated cell (CL0000064)
Fold Change: 0.39
Marker Score: 1335.5
Cell Name: renal alpha-intercalated cell (CL0005011)
Fold Change: 0.39
Marker Score: 204
Cell Name: parietal epithelial cell (CL1000452)
Fold Change: 0.38
Marker Score: 138
Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 0.38
Marker Score: 120
Cell Name: Unknown (CL0002371)
Fold Change: 0.38
Marker Score: 402
Cell Name: renal interstitial pericyte (CL1001318)
Fold Change: 0.38
Marker Score: 359
Cell Name: adventitial cell (CL0002503)
Fold Change: 0.37
Marker Score: 92

Hover over a box to see details here...

**Key characteristics:** - CLCN6 is a member of the chloride channel family of ion channels. - It is expressed in neurons, oligodendrocytes, cardiomyocytes, and retinal ganglion cells. - It is a heterotetrameric protein, with four transmembrane domains. - Each domain is composed of a pore-forming transmembrane domain and a cytoplasmic intracellular loop. **Pathways and functions:** - CLCN6 is involved in the regulation of water and solute transport across cell membranes. - It is a key regulator of neuronal excitability and synaptic plasticity. - It is also involved in the regulation of cardiac function and blood pressure. - CLCN6 is a potential therapeutic target for a variety of neurological diseases, such as epilepsy, stroke, and neurodegenerative disorders. **Clinical significance:** - Mutations in CLCN6 have been linked to a number of neurological and psychiatric disorders, including epilepsy, schizophrenia, and autism. - CLCN6 inhibitors are being investigated as potential treatments for these disorders. **Additional information:** - CLCN6 is a relatively obscure protein, with a low expression in most tissues. - However, its expression is increased in neurons and other cell types that are involved in brain function. - CLCN6 is a highly conserved protein, with a similar sequence in mammals, birds, and fish.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Chloride channel protein 6

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:

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. For the full schema, download it here.

Details for: CLCN6

Associated with

Cells (max top 100)

Other Information

ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family. PubMed ID: 8543009

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

Complete genomic structure of the CLCN6 and CLCN7 putative chloride channel genes. PubMed ID: 10500249

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

Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. PubMed ID: 12168954

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Expression of CLCN voltage-gated chloride channel genes in human blood vessels. PubMed ID: 10198195

Human ClC-6 is a late endosomal glycoprotein that associates with detergent-resistant lipid domains. PubMed ID: 17534424

The late endosomal ClC-6 mediates proton/chloride countertransport in heterologous plasma membrane expression. PubMed ID: 20466723

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration. PubMed ID: 33217309