CLCN4

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 colliculi 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
View/Edit Human View/Edit Mouse

H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene. ^{[5] [6]}

Function

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

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

See also

• Chloride channel

References

1. GRCh38: Ensembl release 89: ENSG00000073464 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000000605 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A (Sep 1994). "A gene from the Xp22.3 region shares homology with voltage-gated chloride channels". Hum Mol Genet. 3 (4): 547–52. doi:10.1093/hmg/3.4.547. PMID   8069296.
6. "Entrez Gene: CLCN4 chloride channel 4".
7. Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF (2013). "Exome sequencing reveals new causal mutations in children with epileptic encephalopathies". Epilepsia. 54 (7): 1270–81. doi:10.1111/epi.12201. PMC   3700577 . PMID   23647072.

Further reading

• Schnur RE, Wick PA (1995). "Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS)". Hum. Genet. 95 (5): 594–5. doi:10.1007/BF00223880. PMID   7759088. S2CID   6494341.
• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Dinulos MB, Bassi MT, Rugarli EI, Chapman V, Ballabio A, Disteche CM (1996). "A new region of conservation is defined between human and mouse X chromosomes". Genomics. 35 (1): 244–7. doi:10.1006/geno.1996.0347. PMID   8661129.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". J. Mol. Cell. Cardiol. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID   10198195.
• Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S (1999). "Identification of an acid-activated Cl(-) channel from human skeletal muscles". Am. J. Physiol. 277 (5 Pt 1): C948–54. doi:10.1152/ajpcell.1999.277.5.C948. PMID   10564087.
• Wang T, Weinman SA (2004). "Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin". Gastroenterology. 126 (4): 1157–66. doi: 10.1053/j.gastro.2004.01.015 . PMID   15057754.
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC   515316 . PMID   15342556.
• Picollo A, Pusch M (2005). "Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5". Nature. 436 (7049): 420–3. Bibcode:2005Natur.436..420P. doi:10.1038/nature03720. PMID   16034421. S2CID   4389450.
• Huang L, Cao J, Wang H, Vo LA, Brand JG (2006). "Identification and Functional Characterization of a Voltage-gated Chloride Channel and Its Novel Splice Variant in Taste Bud Cells". J. Biol. Chem. 280 (43): 36150–7. doi: 10.1074/jbc.M507706200 . PMC   2367165 . PMID   16129671.
• Littler DR, Assaad NN, Harrop SJ, Brown LJ, Pankhurst GJ, Luciani P, Aguilar MI, Mazzanti M, Berryman MA, Breit SN, Curmi PM (2005). "Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4". FEBS J. 272 (19): 4996–5007. doi: 10.1111/j.1742-4658.2005.04909.x . PMID   16176272.
• Okkenhaug H, Weylandt KH, Carmena D, Wells DJ, Higgins CF, Sardini A (2006). "The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus". FASEB J. 20 (13): 2390–2. doi: 10.1096/fj.05-5588fje . PMID   17023393. S2CID   24433478.

External links

• 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.