CLCN4: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}}))
 
m (Bot: HTTP→HTTPS (v470))
 
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''H(+)/Cl(-) exchange transporter 4''' is a [[protein]] that in humans is encoded by the ''CLCN4'' [[gene]].<ref name="pmid8069296">{{cite journal|authorlink10=Huda Zoghbi | vauthors = van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A | title = A gene from the Xp22.3 region shares homology with voltage-gated chloride channels | journal = Hum Mol Genet | volume = 3 | issue = 4 | pages = 547–52 | date = Sep 1994 | pmid = 8069296 | pmc =  | doi = 10.1093/hmg/3.4.547 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CLCN4 chloride channel 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1183| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Chloride channel 4
| HGNCid = 2022
| Symbol = CLCN4
| AltSymbols =; CLC4; ClC-4; ClC-4A; MGC163150
| OMIM = 302910
| ECnumber = 
| Homologene = 68207
| MGIid = 104571
| GeneAtlas_image1 = PBB_GE_CLCN4_205148_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_CLCN4_205149_s_at_tn.png
| Function = {{GNF_GO|id=GO:0005247 |text = voltage-gated chloride channel activity}} {{GNF_GO|id=GO:0031404 |text = chloride ion binding}}
| Component = {{GNF_GO|id=GO:0005624 |text = membrane fraction}} {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0016020 |text = membrane}}
| Process = {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0006821 |text = chloride transport}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 1183
    | Hs_Ensembl = ENSG00000073464
    | Hs_RefseqProtein = NP_001821
    | Hs_RefseqmRNA = NM_001830
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = X
    | Hs_GenLoc_start = 10085024
    | Hs_GenLoc_end = 10165700
    | Hs_Uniprot = P51793
    | Mm_EntrezGene = 12727
    | Mm_Ensembl = ENSMUSG00000000605
    | Mm_RefseqmRNA = XM_979316
    | Mm_RefseqProtein = XP_984410
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 6887494
    | Mm_GenLoc_end = 6902833
    | Mm_Uniprot = Q2TAX6
  }}
}}
'''Chloride channel 4''', also known as '''CLCN4''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CLCN4 chloride channel 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1183| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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 [[SHROOM2|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.<ref name="entrez" />
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: CLCN4 chloride channel 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1183| accessdate = }}</ref>
}}


==References==
== Clinical significance ==
{{reflist|2}}
 
==Further reading==
Mutations in this gene have been linked to cases of early onset [[epilepsy]]<ref name="pmid23647072">{{cite journal | vauthors = 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 | title = Exome sequencing reveals new causal mutations in children with epileptic encephalopathies | journal = Epilepsia | volume = 54 | issue = 7 | pages = 1270–81 | year = 2013 | pmid = 23647072 | pmc = 3700577 | doi = 10.1111/epi.12201 }}</ref>
 
== See also ==
* [[Chloride channel]]
 
== References ==
{{reflist}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Schnur RE, Wick PA | title = 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) | journal = Hum. Genet. | volume = 95 | issue = 5 | pages = 594–5 | year = 1995 | pmid = 7759088 | doi = 10.1007/BF00223880 }}
| citations =
* {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
*{{cite journal | author=Schnur RE, Wick PA |title=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). |journal=Hum. Genet. |volume=95 |issue= 5 |pages= 594-5 |year= 1995 |pmid= 7759088 |doi= }}
* {{cite journal | vauthors = Dinulos MB, Bassi MT, Rugarli EI, Chapman V, Ballabio A, Disteche CM | title = A new region of conservation is defined between human and mouse X chromosomes | journal = Genomics | volume = 35 | issue = 1 | pages = 244–7 | year = 1996 | pmid = 8661129 | doi = 10.1006/geno.1996.0347 }}
*{{cite journal  | author=van Slegtenhorst MA, Bassi MT, Borsani G, ''et al.'' |title=A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. |journal=Hum. Mol. Genet. |volume=3 |issue= 4 |pages= 547-52 |year= 1994 |pmid= 8069296 |doi=  }}
* {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | year = 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
*{{cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171-4 |year= 1994 |pmid= 8125298 |doi= }}
* {{cite journal | vauthors = Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC | title = Expression of CLCN voltage-gated chloride channel genes in human blood vessels | journal = J. Mol. Cell. Cardiol. | volume = 31 | issue = 3 | pages = 657–66 | year = 1999 | pmid = 10198195 | doi = 10.1006/jmcc.1998.0901 }}
*{{cite journal | author=Dinulos MB, Bassi MT, Rugarli EI, ''et al.'' |title=A new region of conservation is defined between human and mouse X chromosomes. |journal=Genomics |volume=35 |issue= 1 |pages= 244-7 |year= 1996 |pmid= 8661129 |doi= 10.1006/geno.1996.0347 }}
* {{cite journal | vauthors = Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S | title = Identification of an acid-activated Cl(-) channel from human skeletal muscles | journal = Am. J. Physiol. | volume = 277 | issue = 5 Pt 1 | pages = C948–54 | year = 1999 | pmid = 10564087 | doi =  }}
*{{cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149-56 |year= 1997 |pmid= 9373149 |doi= }}
* {{cite journal | vauthors = Wang T, Weinman SA | title = Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin | journal = Gastroenterology | volume = 126 | issue = 4 | pages = 1157–66 | year = 2004 | pmid = 15057754 | doi = 10.1053/j.gastro.2004.01.015 }}
*{{cite journal | author=Lamb FS, Clayton GH, Liu BX, ''et al.'' |title=Expression of CLCN voltage-gated chloride channel genes in human blood vessels. |journal=J. Mol. Cell. Cardiol. |volume=31 |issue= 3 |pages= 657-66 |year= 1999 |pmid= 10198195 |doi= 10.1006/jmcc.1998.0901 }}
* {{cite journal | vauthors = Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S | title = Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions | journal = Genome Res. | volume = 14 | issue = 9 | pages = 1711–8 | year = 2004 | pmid = 15342556 | pmc = 515316 | doi = 10.1101/gr.2435604 }}
*{{cite journal | author=Kawasaki M, Fukuma T, Yamauchi K, ''et al.'' |title=Identification of an acid-activated Cl(-) channel from human skeletal muscles. |journal=Am. J. Physiol. |volume=277 |issue= 5 Pt 1 |pages= C948-54 |year= 1999 |pmid= 10564087 |doi=  }}
* {{cite journal | vauthors = Picollo A, Pusch M | title = Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5 | journal = Nature | volume = 436 | issue = 7049 | pages = 420–3 | year = 2005 | pmid = 16034421 | doi = 10.1038/nature03720 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Huang L, Cao J, Wang H, Vo LA, Brand JG | title = Identification and Functional Characterization of a Voltage-gated Chloride Channel and Its Novel Splice Variant in Taste Bud Cells | journal = J. Biol. Chem. | volume = 280 | issue = 43 | pages = 36150–7 | year = 2006 | pmid = 16129671 | pmc = 2367165 | doi = 10.1074/jbc.M507706200 }}
*{{cite journal  | author=Wang T, Weinman SA |title=Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin. |journal=Gastroenterology |volume=126 |issue= 4 |pages= 1157-66 |year= 2004 |pmid= 15057754 |doi= }}
* {{cite journal | vauthors = Littler DR, Assaad NN, Harrop SJ, Brown LJ, Pankhurst GJ, Luciani P, Aguilar MI, Mazzanti M, Berryman MA, Breit SN, Curmi PM | title = Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4 | journal = FEBS J. | volume = 272 | issue = 19 | pages = 4996–5007 | year = 2005 | pmid = 16176272 | doi = 10.1111/j.1742-4658.2005.04909.x }}
*{{cite journal | author=Suzuki Y, Yamashita R, Shirota M, ''et al.'' |title=Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. |journal=Genome Res. |volume=14 |issue= 9 |pages= 1711-8 |year= 2004 |pmid= 15342556 |doi= 10.1101/gr.2435604 }}
* {{cite journal | vauthors = Okkenhaug H, Weylandt KH, Carmena D, Wells DJ, Higgins CF, Sardini A | 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 | journal = FASEB J. | volume = 20 | issue = 13 | pages = 2390–2 | year = 2006 | pmid = 17023393 | doi = 10.1096/fj.05-5588fje }}
*{{cite journal | author=Picollo A, Pusch M |title=Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5. |journal=Nature |volume=436 |issue= 7049 |pages= 420-3 |year= 2005 |pmid= 16034421 |doi= 10.1038/nature03720 }}
*{{cite journal | author=Huang L, Cao J, Wang H, ''et al.'' |title=Identification and functional characterization of a voltage-gated chloride channel and its novel splice variant in taste bud cells. |journal=J. Biol. Chem. |volume=280 |issue= 43 |pages= 36150-7 |year= 2006 |pmid= 16129671 |doi= 10.1074/jbc.M507706200 }}
*{{cite journal | author=Littler DR, Assaad NN, Harrop SJ, ''et al.'' |title=Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4. |journal=FEBS J. |volume=272 |issue= 19 |pages= 4996-5007 |year= 2005 |pmid= 16176272 |doi= 10.1111/j.1742-4658.2005.04909.x }}
*{{cite journal | author=Okkenhaug H, Weylandt KH, Carmena D, ''et al.'' |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. |journal=FASEB J. |volume=20 |issue= 13 |pages= 2390-2 |year= 2006 |pmid= 17023393 |doi= 10.1096/fj.05-5588fje }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
== External links ==
{{WikiDoc Sources}}
* {{MeshName|CLCN4+protein,+human}}
* {{UCSC gene info|CLCN4}}
 
{{Ion channels|g4}}
 
{{NLM content}}
 
[[Category:Ion channels]]
 
 
{{gene-X-stub}}

Latest revision as of 02:28, 27 October 2017

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.[1][2]

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.[2]

Clinical significance

Mutations in this gene have been linked to cases of early onset epilepsy[3]

See also

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: CLCN4 chloride channel 4".
  3. ↑ 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

External links

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


Retrieved from "https://www.wikidoc.org/index.php?title=CLCN4&oldid=1423115"