CLCN7
| CLCN7 | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 16: 1.44 – 1.48 Mb | Chr 17: 25.35 – 25.38 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
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".
- PMID 17105730.
- S2CID 24698373.
- 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. 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. 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. PMID 8617505.
- Eggermont J (1998). "The exon-intron architecture of human chloride channel genes is not conserved". Biochim. Biophys. Acta. 1397 (2): 156–60. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 15692563.
- 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. S2CID 22530335.
- 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. 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. S2CID 7827573.
External links
- GeneReviews/NCBI/NIH/UW entry on CLCN7-Related Osteopetrosis
- CLCN7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CLCN7 genome location and CLCN7 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.