Details for: CLCN3

Gene ID: 1182

Symbol: CLCN3

Ensembl ID: ENSG00000109572

Description: chloride voltage-gated channel 3

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: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 2.11
    Marker Score: 11084
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.08
    Marker Score: 46457
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.01
    Marker Score: 40068
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.96
    Marker Score: 4954
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.93
    Marker Score: 8911
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.91
    Marker Score: 2817
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.9
    Marker Score: 4335
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.89
    Marker Score: 71733
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.88
    Marker Score: 14386
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.85
    Marker Score: 7740
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.84
    Marker Score: 68059
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.82
    Marker Score: 7051
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.82
    Marker Score: 17142
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 1.82
    Marker Score: 543
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.81
    Marker Score: 4862
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.81
    Marker Score: 18730
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.78
    Marker Score: 109719
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.78
    Marker Score: 26605.5
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.77
    Marker Score: 31383
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.75
    Marker Score: 7256
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 1.72
    Marker Score: 900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.71
    Marker Score: 16242
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.7
    Marker Score: 1881
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.69
    Marker Score: 57134
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.69
    Marker Score: 6861
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.66
    Marker Score: 14234
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.66
    Marker Score: 3966
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.61
    Marker Score: 2271
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.61
    Marker Score: 34390.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.57
    Marker Score: 458
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.56
    Marker Score: 1587
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.56
    Marker Score: 1202
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.56
    Marker Score: 2724
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 1.55
    Marker Score: 646
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.52
    Marker Score: 1575
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.51
    Marker Score: 2036
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.5
    Marker Score: 2488
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.49
    Marker Score: 2300
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 1.48
    Marker Score: 3398
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 1.45
    Marker Score: 4873.5
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 1.43
    Marker Score: 7703
  • Cell Name: granule cell (CL0000120)
    Fold Change: 1.42
    Marker Score: 10684
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.4
    Marker Score: 3994
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.4
    Marker Score: 4387
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.39
    Marker Score: 1970
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.37
    Marker Score: 1575
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.36
    Marker Score: 1471
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 1.33
    Marker Score: 4588
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.33
    Marker Score: 557
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.32
    Marker Score: 1392
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.32
    Marker Score: 1634.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 1.32
    Marker Score: 1141
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.32
    Marker Score: 11458
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.31
    Marker Score: 2330
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.31
    Marker Score: 1387
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.3
    Marker Score: 1570
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.3
    Marker Score: 5014
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 1.29
    Marker Score: 601
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.29
    Marker Score: 1444
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.28
    Marker Score: 10994.5
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 1.24
    Marker Score: 724
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.24
    Marker Score: 4412
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.24
    Marker Score: 19415
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.23
    Marker Score: 608
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.22
    Marker Score: 5870
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.21
    Marker Score: 909
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.2
    Marker Score: 2830
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.19
    Marker Score: 1187.5
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.18
    Marker Score: 669
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.16
    Marker Score: 4849
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 1.15
    Marker Score: 772
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 1.15
    Marker Score: 10125
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.15
    Marker Score: 2334
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.14
    Marker Score: 1921
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.14
    Marker Score: 6765
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 1.14
    Marker Score: 590
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.14
    Marker Score: 666
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.14
    Marker Score: 2184
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 1.13
    Marker Score: 945
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.12
    Marker Score: 777
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.12
    Marker Score: 762
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.11
    Marker Score: 2114
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.1
    Marker Score: 223
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.1
    Marker Score: 614
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.09
    Marker Score: 4561
  • Cell Name: basal cell (CL0000646)
    Fold Change: 1.09
    Marker Score: 1411
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.09
    Marker Score: 1507
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.08
    Marker Score: 2373
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: 1.08
    Marker Score: 342
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.08
    Marker Score: 403
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 1.08
    Marker Score: 3074
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.07
    Marker Score: 364
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.07
    Marker Score: 926
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 1.07
    Marker Score: 307.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 1.06
    Marker Score: 343
  • Cell Name: PP cell (CL0000696)
    Fold Change: 1.06
    Marker Score: 238
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.05
    Marker Score: 6711
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 1.05
    Marker Score: 347.5
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 1.05
    Marker Score: 391
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.04
    Marker Score: 350

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Other Information

**Key characteristics:** - CLCN3 is a transmembrane protein that is expressed in the plasma membrane of cells. - It is a member of the chloride channel family of ion channels. - It is a highly conserved protein, with a sequence that is found in organisms from yeast to humans. **Pathways and functions:** - CLCN3 is involved in a variety of cellular processes, including cell volume regulation, apoptosis, and synaptic transmission. - In cell volume regulation, CLCN3 is responsible for maintaining the resting membrane potential of neurons and muscle cells. - In apoptosis, CLCN3 is involved in the regulation of cell death. - In synaptic transmission, CLCN3 is a key component of the voltage-gated chloride channel complex that mediates synaptic transmission in nerve cells. **Clinical significance:** - Mutations in CLCN3 have been linked to a number of human diseases, including epilepsy, schizophrenia, and autism. - In epilepsy, mutations in CLCN3 can lead to the development of seizures. - In schizophrenia, mutations in CLCN3 can lead to the development of psychosis and other symptoms of the disease. - Mutations in CLCN3 are also associated with a number of other neurological disorders, including autism, intellectual disability, and developmental disorders.

Genular Protein ID: 1603048291

Symbol: CLCN3_HUMAN

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

UniProtKB Accession Codes:

P51790 B7Z932 B9EGJ9 D3DP34 E9PB97 O14918 Q86Z21

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 2 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 12 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 42 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

B3KXK0

Database IDs:

ARBA 15 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 DNASU 1 EMBL 2 GO 6 Gene3D 2 Genevisible 1 GenomeRNAi 1 InterPro 5 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 RefSeq 1 RuleBase 1 SUPFAM 2

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. For the full schema, download it here.