CLCN7

CLCN7

Chloride channel, voltage-sensitive 7
Identifiers
Symbols  ; CLC-7; CLC7; OPTA2; OPTB4; PPP1R63
External IDs IUPHAR: GeneCards:
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

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.[1] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.[2][3]

Contents

  • Clinical significance 1
  • See also 2
  • References 3
  • Further reading 4
  • External links 5

Clinical significance

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.[4]

See also

References

  1. ^ "Entrez Gene: CLCN7 chloride channel 7". 
  2. ^ 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.  
  3. ^ 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.  
  4. ^ 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". Lab. Invest. 94 (3): 275–85.  

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.  
  • 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.  
  • 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.  
  • Eggermont J (1998). "The exon-intron architecture of human chloride channel genes is not conserved". Biochim. Biophys. Acta 1397 (2): 156–60.  
  • White KE, Koller DL, Takacs I et al. (1999). "Locus heterogeneity of autosomal dominant osteopetrosis (ADO)". J. Clin. Endocrinol. Metab. 84 (3): 1047–51.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • 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.  
  • Pettersson U, Albagha OM, Mirolo M et al. (2006). "Polymorphisms of the CLCN7 gene are associated with BMD in women". J. Bone Miner. Res. 20 (11): 1960–7.  
  • 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.  
  • 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.  

External links

  • GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
  • CLCN7 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)

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