From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
Chloride channel 7 alpha subunit also known as H+ /Cl− exchange transporter 7 is a
protein that in humans is encoded by the CLCN7
gene .
[5] In
melanocytic cells this gene is regulated by the
Microphthalmia-associated transcription factor .
[6]
[7]
Clinical significance
Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant
osteopetrosis type II, a rare disease of bones.
[8]
See also
References
^
a
b
c
GRCh38: Ensembl release 89: ENSG00000103249 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000036636 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Entrez Gene: CLCN7 chloride channel 7" .
^ Meadows NA, Sharma SM, Faulkner GJ, Ostrowski MC, Hume DA, Cassady AI (2007).
"The expression of Clcn7 and Ostm1 in osteoclasts is coregulated by microphthalmia transcription factor" . J. Biol. Chem . 282 (3): 1891–904.
doi :
10.1074/jbc.M608572200 .
PMID
17105730 .
^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008).
"Novel MITF targets identified using a two-step DNA microarray strategy" . Pigment Cell Melanoma Res . 21 (6): 665–76.
doi :
10.1111/j.1755-148X.2008.00505.x .
PMID
19067971 .
S2CID
24698373 .
^ Coudert AE, Del Fattore A, Baulard C, Olaso R, Schiltz C, Collet C, Teti A, de Vernejoul MC (2014).
"Differentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biology" (PDF) . Lab. Invest . 94 (3): 275–85.
doi :
10.1038/labinvest.2013.140 .
PMID
24336069 .
S2CID
5097233 .
Further reading
Brandt S, Jentsch TJ (1996). "ClC-6 and ClC-7 are two novel broadly expressed members of the CLC chloride channel family". FEBS Lett . 377 (1): 15–20.
doi :
10.1016/0014-5793(95)01298-2 .
PMID
8543009 .
S2CID
717696 .
Héon E, Piguet B, Munier F, et al. (1996). "Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21". Arch. Ophthalmol . 114 (2): 193–8.
doi :
10.1001/archopht.1996.01100130187014 .
PMID
8573024 .
Lennon G, Auffray C, Polymeropoulos M, Soares MB (1996).
"The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression" . Genomics . 33 (1): 151–2.
doi :
10.1006/geno.1996.0177 .
PMID
8617505 .
Eggermont J (1998). "The exon-intron architecture of human chloride channel genes is not conserved". Biochim. Biophys. Acta . 1397 (2): 156–60.
doi :
10.1016/s0167-4781(98)00014-1 .
PMID
9565675 .
White KE, Koller DL, Takacs I, et al. (1999).
"Locus heterogeneity of autosomal dominant osteopetrosis (ADO)" . J. Clin. Endocrinol. Metab . 84 (3): 1047–51.
doi :
10.1210/jcem.84.3.5578 .
PMID
10084593 .
S2CID
46056019 .
Daniels RJ, Peden JF, Lloyd C, et al. (2001).
"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16" . Hum. Mol. Genet . 10 (4): 339–52.
doi :
10.1093/hmg/10.4.339 .
PMID
11157797 .
Kornak U, Kasper D, Bösl MR, et al. (2001).
"Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man" . Cell . 104 (2): 205–15.
doi :
10.1016/S0092-8674(01)00206-9 .
PMID
11207362 .
Cleiren E, Bénichou O, Van Hul E, et al. (2002). "Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene". Hum. Mol. Genet . 10 (25): 2861–7.
doi :
10.1093/hmg/10.25.2861 .
PMID
11741829 .
Harada K, Toyooka S, Maitra A, et al. (2002). "Aberrant promoter methylation and silencing of the RASSF1A gene in pediatric tumors and cell lines". Oncogene . 21 (27): 4345–9.
doi :
10.1038/sj.onc.1205446 .
PMID
12082624 .
S2CID
26627369 .
Strausberg RL, Feingold EA, Grouse LH, et al. (2003).
"Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences" . Proc. Natl. Acad. Sci. U.S.A . 99 (26): 16899–903.
Bibcode :
2002PNAS...9916899M .
doi :
10.1073/pnas.242603899 .
PMC
139241 .
PMID
12477932 .
Campos-Xavier AB, Saraiva JM, Ribeiro LM, et al. (2003). "Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis". Hum. Genet . 112 (2): 186–9.
doi :
10.1007/s00439-002-0861-9 .
PMID
12522560 .
S2CID
33010093 .
Waguespack SG, Koller DL, White KE, et al. (2004). "Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II". J. Bone Miner. Res . 18 (8): 1513–8.
doi :
10.1359/jbmr.2003.18.8.1513 .
PMID
12929941 .
S2CID
23907779 .
Frattini A, Pangrazio A, Susani L, et al. (2004).
"Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis" . J. Bone Miner. Res . 18 (10): 1740–7.
doi :
10.1359/jbmr.2003.18.10.1740 .
PMID
14584882 .
S2CID
20966489 .
Ota T, Suzuki Y, Nishikawa T, et al. (2004).
"Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5.
doi :
10.1038/ng1285 .
PMID
14702039 .
Henriksen K, Gram J, Schaller S, et al. (2004).
"Characterization of Osteoclasts from Patients Harboring a G215R Mutation in ClC-7 Causing Autosomal Dominant Osteopetrosis Type II" . Am. J. Pathol . 164 (5): 1537–45.
doi :
10.1016/S0002-9440(10)63712-1 .
PMC
1615650 .
PMID
15111300 .
Gerhard DS, Wagner L, Feingold EA, et al. (2004).
"The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7.
doi :
10.1101/gr.2596504 .
PMC
528928 .
PMID
15489334 .
Köttgen M, Benzing T, Simmen T, et al. (2005).
"Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation" . EMBO J . 24 (4): 705–16.
doi :
10.1038/sj.emboj.7600566 .
PMC
549624 .
PMID
15692563 .
Kornak U, Ostertag A, Branger S, et al. (2006). "Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II". J. Clin. Endocrinol. Metab . 91 (3): 995–1000.
doi :
10.1210/jc.2005-2017 .
PMID
16368748 .
S2CID
25948191 .
Olsen JV, Blagoev B, Gnad F, et al. (2006).
"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks" . Cell . 127 (3): 635–48.
doi :
10.1016/j.cell.2006.09.026 .
PMID
17081983 .
S2CID
7827573 .
External links
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .