Details for: CLCN4

Gene ID: 1183

Symbol: CLCN4

Ensembl ID: ENSG00000073464

Description: chloride voltage-gated channel 4

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 (CL0000540)
    Fold Change: 1.56
    Marker Score: 6358
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.53
    Marker Score: 14566
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.53
    Marker Score: 1524.5
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.52
    Marker Score: 93638
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.48
    Marker Score: 15315
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168978
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.41
    Marker Score: 53419
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.4
    Marker Score: 13190
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.39
    Marker Score: 27589
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.36
    Marker Score: 11700
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.35
    Marker Score: 20189
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.33
    Marker Score: 6169
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.32
    Marker Score: 2035
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.31
    Marker Score: 5064
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.29
    Marker Score: 9918
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.28
    Marker Score: 5304
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.27
    Marker Score: 46714
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.26
    Marker Score: 914
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.25
    Marker Score: 848
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.16
    Marker Score: 481
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4802
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.09
    Marker Score: 2216
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.08
    Marker Score: 497
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.05
    Marker Score: 2124.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 789
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.03
    Marker Score: 16159
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.03
    Marker Score: 2455
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71808
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48033
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • 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: 456
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5310
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.92
    Marker Score: 368
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2736
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.89
    Marker Score: 374
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.89
    Marker Score: 320
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5282
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.83
    Marker Score: 1566.5
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.82
    Marker Score: 479
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.8
    Marker Score: 27066
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.79
    Marker Score: 1989
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.79
    Marker Score: 4224
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.78
    Marker Score: 233.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1262
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 0.77
    Marker Score: 2567
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.76
    Marker Score: 695
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 391
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.71
    Marker Score: 195
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.71
    Marker Score: 456
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.69
    Marker Score: 4132
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 175
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 0.68
    Marker Score: 1568
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.68
    Marker Score: 1606
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.68
    Marker Score: 356
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.65
    Marker Score: 4888
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.65
    Marker Score: 438
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.64
    Marker Score: 206
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.63
    Marker Score: 762
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.63
    Marker Score: 1794
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.62
    Marker Score: 588.5
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.62
    Marker Score: 3268
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.62
    Marker Score: 13209
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.61
    Marker Score: 765
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.61
    Marker Score: 193
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.61
    Marker Score: 458
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.6
    Marker Score: 2482.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.56
    Marker Score: 176
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 439
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.53
    Marker Score: 274
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.53
    Marker Score: 203
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.52
    Marker Score: 389
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.52
    Marker Score: 2159.5
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.51
    Marker Score: 308
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.5
    Marker Score: 158
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.47
    Marker Score: 358
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.46
    Marker Score: 497
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.45
    Marker Score: 222
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.45
    Marker Score: 103
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 0.43
    Marker Score: 130
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.42
    Marker Score: 7521
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.42
    Marker Score: 238
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.41
    Marker Score: 328
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.41
    Marker Score: 9085
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.41
    Marker Score: 397
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.4
    Marker Score: 346
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.39
    Marker Score: 188
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.39
    Marker Score: 475
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.39
    Marker Score: 227
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.39
    Marker Score: 387
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.39
    Marker Score: 481
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.39
    Marker Score: 245
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 0.38
    Marker Score: 184
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.38
    Marker Score: 1355
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0.37
    Marker Score: 1057
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.36
    Marker Score: 206
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.36
    Marker Score: 3654
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.35
    Marker Score: 1005
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 0.34
    Marker Score: 475

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** * CLCN4 is a transmembrane protein with a predicted molecular weight of approximately 140 kDa. * It is expressed in a variety of cell types, including neurons, enterocytes, and immune cells. * CLCN4 is a tetrameric protein, meaning it consists of four subunits that are assembled into a single channel. * Each subunit is responsible for a specific type of chloride ion channel. **Pathways and functions:** * CLCN4 is primarily expressed in the plasma membrane of neurons and other electrically active cells. * It is involved in a variety of cellular processes, including: * Chloride transport * Antiporting activity * Atp binding * Chloride channel activity * Regulation of neuronal excitability **Clinical significance:** * Mutations in CLCN4 have been linked to a number of neurological and psychiatric disorders, including schizophrenia, autism, and epilepsy. * CLCN4 is a potential therapeutic target for these disorders, as it is a key component of the chloride channels that are disrupted in these diseases. **Additional notes:** * CLCN4 is a highly conserved protein, with a similar sequence found in mammals, birds, and fish. * It is a member of the SLC2 family of chloride channels, which are known for their role in maintaining the resting membrane potential of neurons. * CLCN4 is a relatively new protein, with the first cloned clone being completed only in 2000.

Genular Protein ID: 1632650736

Symbol: CLCN4_HUMAN

Name: H(+)/Cl(-) exchange transporter 4

UniProtKB Accession Codes:

P51793 A1L3U1 B7Z5Z4 Q9UBU1

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CTD 1 ChEBI 6 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 2 ExpressionAtlas 1 GO 19 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 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 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8069296

Title: A gene from the Xp22.3 region shares homology with voltage-gated chloride channels.

PubMed ID: 8069296

DOI: 10.1093/hmg/3.4.547

PubMed ID: 10564087

Title: Identification of an acid-activated Cl- channel from human skeletal muscles.

PubMed ID: 10564087

DOI: 10.1152/ajpcell.1999.277.5.c948

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 17023393

Title: The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus.

PubMed ID: 17023393

DOI: 10.1096/fj.05-5588fje

PubMed ID: 18063579

Title: Determinants of anion-proton coupling in mammalian endosomal CLC proteins.

PubMed ID: 18063579

DOI: 10.1074/jbc.m708368200

PubMed ID: 28972156

Title: Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments.

PubMed ID: 28972156

DOI: 10.1074/jbc.m117.801951

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: 23647072

Title: Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

PubMed ID: 23647072

DOI: 10.1111/epi.12201

PubMed ID: 26034137

Title: Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia.

PubMed ID: 26034137

DOI: 10.1093/hmg/ddv196

PubMed ID: 27550844

Title: De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.

PubMed ID: 27550844

DOI: 10.1038/mp.2016.135

PubMed ID: 25644381

Title: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PubMed ID: 25644381

DOI: 10.1038/mp.2014.193

Sequence Information:

  • Length: 760
  • Mass: 84917
  • Checksum: 3A5A25D1FEF3F217
  • Sequence:
    • MVNAGAMSGS GNLMDFLDEP FPDVGTYEDF HTIDWLREKS RDTDRHRKIT SKSKESIWEF 
IKSLLDAWSG WVVMLLIGLL AGTLAGVIDL AVDWMTDLKE GVCLSAFWYS HEQCCWTSNE 
TTFEDRDKCP LWQKWSELLV NQSEGASAYI LNYLMYILWA LLFAFLAVSL VRVFAPYACG 
SGIPEIKTIL SGFIIRGYLG KWTLLIKTVT LVLVVSSGLS LGKEGPLVHV ACCCGNFFSS 
LFSKYSKNEG KRREVLSAAA AAGVSVAFGA PIGGVLFSLE EVSYYFPLKT LWRSFFAALV 
AAFTLRSINP FGNSRLVLFY VEYHTPWYMA ELFPFILLGV FGGLWGTLFI RCNIAWCRRR 
KTTRLGKYPV LEVIVVTAIT AIIAYPNPYT RQSTSELISE LFNDCGALES SQLCDYINDP 
NMTRPVDDIP DRPAGVGVYT AMWQLALALI FKIVVTIFTF GMKIPSGLFI PSMAVGAIAG 
RMVGIGVEQL AYHHHDWIIF RNWCRPGADC VTPGLYAMVG AAACLGGVTR MTVSLVVIMF 
ELTGGLEYIV PLMAAAVTSK WVADAFGKEG IYEAHIHLNG YPFLDVKDEF THRTLATDVM 
RPRRGEPPLS VLTQDSMTVE DVETLIKETD YNGFPVVVSR DSERLIGFAQ RRELILAIKN 
ARQRQEGIVS NSIMYFTEEP PELPANSPHP LKLRRILNLS PFTVTDHTPM ETVVDIFRKL 
GLRQCLVTRS GRLLGIITKK DVLRHMAQMA NQDPESIMFN

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.