Details for: CLCN2

Gene ID: 1181

Symbol: CLCN2

Ensembl ID: ENSG00000114859

Description: chloride voltage-gated channel 2

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: neuroendocrine cell (CL0000165)
    Fold Change: 1.35
    Marker Score: 523.5
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.24
    Marker Score: 2928
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71824
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48048
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.99
    Marker Score: 1869
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 458
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.96
    Marker Score: 14995
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5246
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2737
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.91
    Marker Score: 984
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.9
    Marker Score: 1829
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 321
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5285
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.82
    Marker Score: 2586
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.8
    Marker Score: 1292
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 392
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 663
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.71
    Marker Score: 286
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.7
    Marker Score: 226
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.69
    Marker Score: 216
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.69
    Marker Score: 2885
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 176
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.67
    Marker Score: 512
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.66
    Marker Score: 325
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.64
    Marker Score: 426
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.62
    Marker Score: 162
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.62
    Marker Score: 951
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.61
    Marker Score: 291
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.59
    Marker Score: 21750
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.57
    Marker Score: 962
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 442
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.53
    Marker Score: 11378
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.52
    Marker Score: 312
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.47
    Marker Score: 1340
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.45
    Marker Score: 2179
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.45
    Marker Score: 469
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.45
    Marker Score: 1816
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.41
    Marker Score: 354
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.41
    Marker Score: 238
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.4
    Marker Score: 176
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.38
    Marker Score: 5625
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.36
    Marker Score: 2795
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.36
    Marker Score: 356.5
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.35
    Marker Score: 1370
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.35
    Marker Score: 3027
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.35
    Marker Score: 21400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.34
    Marker Score: 220
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.34
    Marker Score: 12907
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.32
    Marker Score: 3043
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.31
    Marker Score: 2902
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.3
    Marker Score: 1243
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.29
    Marker Score: 336
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.28
    Marker Score: 496
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 0.28
    Marker Score: 435
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.28
    Marker Score: 5571
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.28
    Marker Score: 115
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.26
    Marker Score: 243
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.26
    Marker Score: 210
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.26
    Marker Score: 2708
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.26
    Marker Score: 611
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.25
    Marker Score: 66
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.24
    Marker Score: 72
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.23
    Marker Score: 1384
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.23
    Marker Score: 147
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.23
    Marker Score: 95
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.22
    Marker Score: 1328
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 63
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.21
    Marker Score: 141
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.21
    Marker Score: 72
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.21
    Marker Score: 259
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.21
    Marker Score: 117
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.2
    Marker Score: 118
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.2
    Marker Score: 49
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.2
    Marker Score: 3543
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.2
    Marker Score: 111
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.2
    Marker Score: 148
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.19
    Marker Score: 53
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.19
    Marker Score: 269
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.19
    Marker Score: 65
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.19
    Marker Score: 84.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.18
    Marker Score: 195
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.18
    Marker Score: 122
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.18
    Marker Score: 42
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.18
    Marker Score: 255
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: 0.18
    Marker Score: 137
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.17
    Marker Score: 211
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.17
    Marker Score: 71
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.17
    Marker Score: 196
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.17
    Marker Score: 64
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.17
    Marker Score: 42
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.16
    Marker Score: 378
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.16
    Marker Score: 658
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.16
    Marker Score: 107
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.15
    Marker Score: 138
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.15
    Marker Score: 59
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.15
    Marker Score: 70
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.15
    Marker Score: 177

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Other Information

**Key characteristics:** - The CLCN2 gene is located on chromosome 17q23.1. - It is a member of the chloride channel family. - It is a highly conserved protein, with a similar sequence found in organisms from yeast to humans. - It is expressed in a variety of cell types, including neuroendocrine cells, kidney proximal straight tubule epithelial cells, cerebral cortex GABAergic interneurons, forebrain radial glial cells, cardiac endothelial cells, absorptive cells, tuft cells of colon, and human, cardiac muscle myoblasts. **Pathways and functions:** - The CLCN2 protein is a chloride channel that is expressed in the plasma membrane of cells. - It is involved in the regulation of cell differentiation. - Chloride channel complexes are involved in a variety of cellular processes, including cell signaling, muscle contraction, and fluid balance. - The CLCN2 protein is also involved in the regulation of aldosterone biosynthetic process. **Clinical significance:** - Mutations in the CLCN2 gene have been linked to a variety of human diseases, including hypertension, stroke, and heart failure. - These diseases are characterized by abnormal chloride channel function. - The CLCN2 gene is a potential target for the treatment of these diseases.

Genular Protein ID: 2200447874

Symbol: CLCN2_HUMAN

Name: Chloride channel protein 2

UniProtKB Accession Codes:

P51788 B4DQT9 B4DZ58 E9PBD9 E9PCD2 O14864 Q6IPA9 Q8WU13

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 2 CTD 1 ChEBI 3 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EMBL 7 EMDB 3 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 12 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 9 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 1 RefSeq 4 SAM 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7795595

Title: Cloning of a putative human voltage-gated chloride channel (ClC-2) cDNA widely expressed in human tissues.

PubMed ID: 7795595

DOI: 10.1093/hmg/4.3.407

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16641997

Title: The DNA sequence, annotation and analysis of human chromosome 3.

PubMed ID: 16641997

DOI: 10.1038/nature04728

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: 19153159

Title: Voltage-dependent and -independent titration of specific residues accounts for complex gating of a ClC chloride channel by extracellular protons.

PubMed ID: 19153159

DOI: 10.1113/jphysiol.2008.167353

PubMed ID: 12612585

Title: Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.

PubMed ID: 12612585

DOI: 10.1038/ng1121

PubMed ID: 19710717

Title:

PubMed ID: 19710717

DOI: 10.1038/ng0909-1043

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 29403011

Title: CLCN2 chloride channel mutations in familial hyperaldosteronism type II.

PubMed ID: 29403011

DOI: 10.1038/s41588-018-0048-5

PubMed ID: 29403012

Title: A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism.

PubMed ID: 29403012

DOI: 10.1038/s41588-018-0053-8

PubMed ID: 17762171

Title: Alterations in the cytoplasmic domain of CLCN2 result in altered gating kinetics.

PubMed ID: 17762171

DOI: 10.1159/000107528

PubMed ID: 19200853

Title: Clinical and genetic familial study of a large cohort of Italian children with idiopathic epilepsy.

PubMed ID: 19200853

DOI: 10.1016/j.brainresbull.2009.01.008

PubMed ID: 19710712

Title: CLCN2 variants in idiopathic generalized epilepsy.

PubMed ID: 19710712

DOI: 10.1038/ng0909-954

PubMed ID: 19191339

Title: Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy.

PubMed ID: 19191339

DOI: 10.1002/humu.20876

PubMed ID: 23707145

Title: Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study.

PubMed ID: 23707145

DOI: 10.1016/s1474-4422(13)70053-x

PubMed ID: 36964785

Title: Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function.

PubMed ID: 36964785

DOI: 10.1007/s00439-023-02531-7

Sequence Information:

  • Length: 898
  • Mass: 98535
  • Checksum: 5F20FA8713C0C74E
  • Sequence:
    • MAAAAAEEGM EPRALQYEQT LMYGRYTQDL GAFAKEEAAR IRLGGPEPWK GPPSSRAAPE 
LLEYGRSRCA RCRVCSVRCH KFLVSRVGED WIFLVLLGLL MALVSWVMDY AIAACLQAQQ 
WMSRGLNTSI LLQYLAWVTY PVVLITFSAG FTQILAPQAV GSGIPEMKTI LRGVVLKEYL 
TLKTFIAKVI GLTCALGSGM PLGKEGPFVH IASMCAALLS KFLSLFGGIY ENESRNTEML 
AAACAVGVGC CFAAPIGGVL FSIEVTSTFF AVRNYWRGFF AATFSAFIFR VLAVWNRDEE 
TITALFKTRF RLDFPFDLQE LPAFAVIGIA SGFGGALFVY LNRKIVQVMR KQKTINRFLM 
RKRLLFPALV TLLISTLTFP PGFGQFMAGQ LSQKETLVTL FDNRTWVRQG LVEELEPPST 
SQAWNPPRAN VFLTLVIFIL MKFWMSALAT TIPVPCGAFM PVFVIGAAFG RLVGESMAAW 
FPDGIHTDSS TYRIVPGGYA VVGAAALAGA VTHTVSTAVI VFELTGQIAH ILPVMIAVIL 
ANAVAQSLQP SLYDSIIRIK KLPYLPELGW GRHQQYRVRV EDIMVRDVPH VALSCTFRDL 
RLALHRTKGR MLALVESPES MILLGSIERS QVVALLGAQL SPARRRQHMQ ERRATQTSPL 
SDQEGPPTPE ASVCFQVNTE DSAFPAARGE THKPLKPALK RGPSVTRNLG ESPTGSAESA 
GIALRSLFCG SPPPEAASEK LESCEKRKLK RVRISLASDA DLEGEMSPEE ILEWEEQQLD 
EPVNFSDCKI DPAPFQLVER TSLHKTHTIF SLLGVDHAYV TSIGRLIGIV TLKELRKAIE 
GSVTAQGVKV RPPLASFRDS ATSSSDTETT EVHALWGPHS RHGLPREGSP SDSDDKCQ

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.