Identity
HGNC
LOCATION
Xp22.2
LOCUSID
ALIAS
CLC4,ClC-4,ClC-4A,MRX15,MRX49,MRXSRC
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1183
MIM: 302910
HGNC: 2022
Ensembl: ENSG00000073464
Variants:
dbSNP: 1183
ClinVar: 1183
TCGA: ENSG00000073464
COSMIC: CLCN4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000073464 | ENST00000380829 | G3XAG5 |
| ENSG00000073464 | ENST00000380833 | P51793 |
| ENSG00000073464 | ENST00000421085 | P51793 |
| ENSG00000073464 | ENST00000454850 | E9PFB5 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Transmembrane transport of small molecules | REACTOME | R-HSA-382551 |
| Ion channel transport | REACTOME | R-HSA-983712 |
| Stimuli-sensing channels | REACTOME | R-HSA-2672351 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36385166 | 2023 | Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. | 9 |
| 36385166 | 2023 | Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. | 9 |
| 33951195 | 2021 | The molecular and phenotypic spectrum of CLCN4-related epilepsy. | 8 |
| 33951195 | 2021 | The molecular and phenotypic spectrum of CLCN4-related epilepsy. | 8 |
| 27550844 | 2018 | 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. | 28 |
| 27550844 | 2018 | 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. | 28 |
| 28972156 | 2017 | Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments. | 13 |
| 28972156 | 2017 | Preferential association with ClC-3 permits sorting of ClC-4 into endosomal compartments. | 13 |
| 23647072 | 2013 | Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. | 131 |
| 23647072 | 2013 | Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. | 131 |
| 21354396 | 2011 | Anion- and proton-dependent gating of ClC-4 anion/proton transporter under uncoupling conditions. | 20 |
| 21354396 | 2011 | Anion- and proton-dependent gating of ClC-4 anion/proton transporter under uncoupling conditions. | 20 |
| 20087350 | 2010 | Gene trapping identifies chloride channel 4 as a novel inducer of colon cancer cell migration, invasion and metastases. | 6 |
| 20087350 | 2010 | Gene trapping identifies chloride channel 4 as a novel inducer of colon cancer cell migration, invasion and metastases. | 6 |
| 19364886 | 2009 | Channel-like slippage modes in the human anion/proton exchanger ClC-4. | 39 |
Citation
Dessen P
CLCN4 (chloride voltage-gated channel 4)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46770/clcn4
