Contents

CLCN4

Protein-coding gene in humans

CLCN4
Identifiers
Aliases	CLCN4, CLC4, ClC-4, ClC-4A, chloride voltage-gated channel 4, MRX15, MRX49, MRXSRC
External IDs	OMIM: 302910; MGI: 104571; HomoloGene: 68207; GeneCards: CLCN4; OMA:CLCN4 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xp22.2 Start 10,156,975 bp[1] End 10,237,660 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 A1|7 4.23 cM Start 7,282,309 bp[2] End 7,300,851 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus Brodmann area 23 postcentral gyrus orbitofrontal cortex biceps brachii corpus epididymis lateral nuclear group of thalamus Skeletal muscle tissue of biceps brachii endothelial cell superior frontal gyrus Top expressed in barrel cortex medial geniculate nucleus Rostral migratory stream medial dorsal nucleus inferior colliculus deep cerebellar nuclei Region I of hippocampus proper habenula pontine nuclei globus pallidus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ATP binding chloride channel activity antiporter activity voltage-gated chloride channel activity solute:proton antiporter activity chloride ion binding Cellular component integral component of membrane endosome endosome membrane early endosome membrane membrane late endosome membrane integral component of plasma membrane endoplasmic reticulum endoplasmic reticulum membrane early endosome Golgi apparatus plasma membrane Biological process ion transmembrane transport ion transport chloride transmembrane transport transmembrane transport chloride transport proton transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1183 12727 Ensembl ENSG00000073464 ENSMUSG00000000605 UniProt P51793 Q61418 RefSeq (mRNA) NM_001830 NM_001256944 NM_011334 NM_001302386 NM_001302387 NM_001357102 NM_001357103 NM_001357104 RefSeq (protein) NP_001243873 NP_001821 NP_001289315 NP_001289316 NP_035464 NP_001344031 NP_001344032 NP_001344033 Location (UCSC) Chr X: 10.16 – 10.24 Mb Chr 7: 7.28 – 7.3 Mb PubMed search [3] [4]
Wikidata
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H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.^[5][6]

Function[edit]

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders.^[6]

Clinical significance[edit]

Mutations in this gene have been linked to cases of early onset epilepsy^[7]

See also[edit]

• Chloride channel

References[edit]

Further reading[edit]

External links[edit]

• CLCN4+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• Human CLCN4 genome location and CLCN4 gene details page in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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