Details for: CLCN4

Gene ID: 1183

Symbol: CLCN4

Ensembl ID: ENSG00000073464

Description: chloride voltage-gated channel 4

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: 135.9090
    Cell Significance Index: -21.1400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 92.6498
    Cell Significance Index: -23.5000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 19.5655
    Cell Significance Index: -18.6800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.8429
    Cell Significance Index: -23.2300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.9629
    Cell Significance Index: -23.5300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.2102
    Cell Significance Index: 139.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5021
    Cell Significance Index: 301.3100
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.4271
    Cell Significance Index: 11.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.8160
    Cell Significance Index: 54.8700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7669
    Cell Significance Index: 275.0800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.6490
    Cell Significance Index: 18.5200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.5756
    Cell Significance Index: 25.4600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5604
    Cell Significance Index: 55.4400
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.5422
    Cell Significance Index: 489.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.5200
    Cell Significance Index: 19.6900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4936
    Cell Significance Index: 25.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4690
    Cell Significance Index: 324.3800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4329
    Cell Significance Index: 9.4800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.4027
    Cell Significance Index: 4.8000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.3916
    Cell Significance Index: 24.0700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2907
    Cell Significance Index: 47.2800
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.2603
    Cell Significance Index: 6.3500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2194
    Cell Significance Index: 7.7100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.2157
    Cell Significance Index: 23.4600
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1714
    Cell Significance Index: 13.1600
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1412
    Cell Significance Index: 2.4200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1069
    Cell Significance Index: 21.2100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1010
    Cell Significance Index: 19.2200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0834
    Cell Significance Index: 2.0000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0370
    Cell Significance Index: 4.3100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0265
    Cell Significance Index: 36.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0251
    Cell Significance Index: 47.2100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0236
    Cell Significance Index: 0.6800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0184
    Cell Significance Index: 1.1100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0144
    Cell Significance Index: 0.9900
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0135
    Cell Significance Index: 20.7600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0075
    Cell Significance Index: 13.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0059
    Cell Significance Index: 0.8600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0053
    Cell Significance Index: 2.8900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0073
    Cell Significance Index: -4.6200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0100
    Cell Significance Index: -7.4400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0129
    Cell Significance Index: -8.0700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0233
    Cell Significance Index: -13.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0259
    Cell Significance Index: -19.0000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0303
    Cell Significance Index: -22.9400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0408
    Cell Significance Index: -18.5100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0412
    Cell Significance Index: -18.2200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0421
    Cell Significance Index: -1.9100
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0485
    Cell Significance Index: -1.0500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0536
    Cell Significance Index: -11.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0573
    Cell Significance Index: -9.7900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0644
    Cell Significance Index: -3.9500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0669
    Cell Significance Index: -19.2600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0729
    Cell Significance Index: -13.1400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0965
    Cell Significance Index: -1.1700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0972
    Cell Significance Index: -2.6100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1108
    Cell Significance Index: -13.6200
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1117
    Cell Significance Index: -5.2100
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1154
    Cell Significance Index: -2.4500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1179
    Cell Significance Index: -15.1100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1208
    Cell Significance Index: -16.5900
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1284
    Cell Significance Index: -1.0600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1389
    Cell Significance Index: -4.4500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1508
    Cell Significance Index: -8.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1511
    Cell Significance Index: -17.3100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1564
    Cell Significance Index: -18.4500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1598
    Cell Significance Index: -16.3200
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.1702
    Cell Significance Index: -2.2700
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1782
    Cell Significance Index: -23.0300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1944
    Cell Significance Index: -2.9300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2003
    Cell Significance Index: -22.8700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.2024
    Cell Significance Index: -4.3100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.2106
    Cell Significance Index: -4.5500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2107
    Cell Significance Index: -4.2300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2107
    Cell Significance Index: -6.7100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2121
    Cell Significance Index: -22.0800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2198
    Cell Significance Index: -5.6500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2382
    Cell Significance Index: -4.7100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2595
    Cell Significance Index: -8.5000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2625
    Cell Significance Index: -20.7900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2688
    Cell Significance Index: -5.5800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3144
    Cell Significance Index: -23.4400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.3145
    Cell Significance Index: -13.6700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3203
    Cell Significance Index: -8.9500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.3208
    Cell Significance Index: -4.0000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3582
    Cell Significance Index: -18.6600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3586
    Cell Significance Index: -18.6300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3658
    Cell Significance Index: -23.6000
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.3825
    Cell Significance Index: -4.9600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3960
    Cell Significance Index: -9.9000
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4033
    Cell Significance Index: -10.0600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4203
    Cell Significance Index: -5.3100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4213
    Cell Significance Index: -14.7600
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.4234
    Cell Significance Index: -4.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.4272
    Cell Significance Index: -20.0800
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: -0.4292
    Cell Significance Index: -6.2600
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4488
    Cell Significance Index: -4.8900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.4596
    Cell Significance Index: -6.7900
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.4603
    Cell Significance Index: -5.3700
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -0.4688
    Cell Significance Index: -4.1300

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** CLCN4 is a voltage-gated chloride channel, meaning that its activity is dependent on the electrical potential across the cell membrane. This channel is characterized by its ability to transport chloride ions (Cl-) across the membrane, either in the presence of sodium ions (Na+) or in exchange for sodium ions. The CLCN4 channel is also known for its high affinity for chloride ions, which allows it to efficiently transport Cl- ions across the membrane. In addition, CLCN4 has been shown to interact with other proteins, including voltage-gated sodium channels and potassium channels, to modulate its activity and regulate cellular signaling pathways. **Pathways and Functions** CLCN4 is involved in various cellular processes, including: 1. **Regulation of chloride ion transport**: CLCN4 is responsible for transporting chloride ions across cell membranes, which is essential for maintaining proper ion homeostasis and regulating cellular excitability. 2. **Neuronal function**: CLCN4 is highly expressed in neurons and plays a critical role in regulating neuronal excitability and synaptic transmission. 3. **Gastrointestinal function**: CLCN4 is also expressed in enterocytes and is involved in regulating chloride ion transport across the intestinal epithelium. 4. **Cell signaling**: CLCN4 interacts with other proteins to modulate cellular signaling pathways, including those involved in neuronal development and function. 5. **Ion homeostasis**: CLCN4 helps to maintain proper ion balance across cell membranes, which is essential for maintaining cellular homeostasis and preventing disease. **Clinical Significance** Dysregulation of CLCN4 has been implicated in various neurological and gastrointestinal disorders, including: 1. **Epilepsy**: CLCN4 mutations have been associated with various forms of epilepsy, including juvenile myoclonic epilepsy and generalized epilepsy with febrile seizures. 2. **Gastrointestinal disorders**: CLCN4 mutations have been linked to gastrointestinal disorders, including cystic fibrosis and irritable bowel syndrome. 3. **Neurological disorders**: CLCN4 has also been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and schizophrenia. In conclusion, CLCN4 is a critical regulator of chloride ion transport and plays a significant role in various cellular processes, including neuronal function, gastrointestinal function, and cell signaling. Dysregulation of CLCN4 has been implicated in various neurological and gastrointestinal disorders, highlighting the importance of this gene in maintaining proper cellular homeostasis.

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 20 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 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 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 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 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 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. 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.