GJD2: Difference between revisions
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'''Gap junction delta-2 protein''' (GJD2) also known as '''connexin-36''' (Cx36) or '''gap junction alpha-9 protein''' (GJA9) | '''Gap junction delta-2 protein''' (GJD2) also known as '''connexin-36''' (Cx36) or '''gap junction alpha-9 protein''' (GJA9) is a [[protein]] that in humans is encoded by the ''GJD2'' [[gene]].<ref name="pmid10462698">{{cite journal |vauthors=Belluardo N, Trovato-Salinaro A, Mudo G, Hurd YL, Condorelli DF | title = Structure, chromosomal localization, and brain expression of human Cx36 gene | journal = J Neurosci Res | volume = 57 | issue = 5 | pages = 740–52 |date=Oct 1999 | pmid = 10462698 | pmc = | doi =10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=57369| accessdate = }}</ref> | ||
== Function == | == Function == | ||
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*{{cite journal |vauthors=Degen J, Meier C, Van Der Giessen RS |title=Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice. |journal=J. Comp. Neurol. |volume=473 |issue= 4 |pages= 511–25 |year= 2004 |pmid= 15116387 |doi= 10.1002/cne.20085 |display-authors=etal}} | *{{cite journal |vauthors=Degen J, Meier C, Van Der Giessen RS |title=Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice. |journal=J. Comp. Neurol. |volume=473 |issue= 4 |pages= 511–25 |year= 2004 |pmid= 15116387 |doi= 10.1002/cne.20085 |display-authors=etal}} | ||
*{{cite journal |vauthors=Mas C, Taske N, Deutsch S |title=Association of the connexin36 gene with juvenile myoclonic epilepsy. |journal=J. Med. Genet. |volume=41 |issue= 7 |pages= e93 |year= 2004 |pmid= 15235036 |doi=10.1136/jmg.2003.017954 | pmc=1735851 |display-authors=etal}} | *{{cite journal |vauthors=Mas C, Taske N, Deutsch S |title=Association of the connexin36 gene with juvenile myoclonic epilepsy. |journal=J. Med. Genet. |volume=41 |issue= 7 |pages= e93 |year= 2004 |pmid= 15235036 |doi=10.1136/jmg.2003.017954 | pmc=1735851 |display-authors=etal}} | ||
*{{cite journal |vauthors=Dobrenis K, Chang HY, Pina-Benabou MH |title=Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. |journal=J. Neurosci. Res. |volume=82 |issue= 3 |pages= 306–15 |year= 2006 |pmid= 16211561 |doi= 10.1002/jnr.20650 | pmc=2583240 |display-authors=etal}} | *{{cite journal|authorlink2=Howard Y. Chang |vauthors=Dobrenis K, Chang HY, Pina-Benabou MH |title=Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons. |journal=J. Neurosci. Res. |volume=82 |issue= 3 |pages= 306–15 |year= 2006 |pmid= 16211561 |doi= 10.1002/jnr.20650 | pmc=2583240 |display-authors=etal}} | ||
*{{cite journal |vauthors=Hempelmann A, Heils A, Sander T |title=Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. |journal=Epilepsy Res. |volume=71 |issue= 2-3 |pages= 223–8 |year= 2006 |pmid= 16876983 |doi= 10.1016/j.eplepsyres.2006.06.021 }} | *{{cite journal |vauthors=Hempelmann A, Heils A, Sander T |title=Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy. |journal=Epilepsy Res. |volume=71 |issue= 2-3 |pages= 223–8 |year= 2006 |pmid= 16876983 |doi= 10.1016/j.eplepsyres.2006.06.021 }} | ||
*{{cite journal |vauthors=Aleksic B, Ishihara R, Takahashi N |title=Gap junction coding genes and schizophrenia: a genetic association study. |journal=J. Hum. Genet. |volume=52 |issue= 6 |pages= 498–501 |year= 2007 |pmid= 17427027 |doi= 10.1007/s10038-007-0142-5 |display-authors=etal}} | *{{cite journal |vauthors=Aleksic B, Ishihara R, Takahashi N |title=Gap junction coding genes and schizophrenia: a genetic association study. |journal=J. Hum. Genet. |volume=52 |issue= 6 |pages= 498–501 |year= 2007 |pmid= 17427027 |doi= 10.1007/s10038-007-0142-5 |display-authors=etal}} | ||
Revision as of 04:59, 28 September 2018
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Gap junction delta-2 protein (GJD2) also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9) is a protein that in humans is encoded by the GJD2 gene.[1][2]
Function
GJD2, also called connexin-36 (CX36), is a member of the connexin gene family that is expressed predominantly in mammalian neurons. Connexins associate in groups of 6 and are organized radially around a central pore to form connexons. Each gap junction intercellular channel is formed by the conjunction of 2 connexons. See GJB2 for additional background information on connexins.[2]
References
- ↑ Belluardo N, Trovato-Salinaro A, Mudo G, Hurd YL, Condorelli DF (Oct 1999). "Structure, chromosomal localization, and brain expression of human Cx36 gene". J Neurosci Res. 57 (5): 740–52. doi:10.1002/(SICI)1097-4547(19990901)57:5<740::AID-JNR16>3.0.CO;2-Z. PMID 10462698.
- ↑ 2.0 2.1 "Entrez Gene: GJA9 gap junction protein, alpha 9, 36kDa".
Further reading
- Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6.
- de Brouwer AP, Pennings RJ, Roeters M, et al. (2003). "Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family". Hum. Genet. 112 (2): 156–63. doi:10.1007/s00439-002-0833-0. PMID 12522556.
- Martin D, Tawadros T, Meylan L, et al. (2004). "Critical role of the transcriptional repressor neuron-restrictive silencer factor in the specific control of connexin36 in insulin-producing cell lines". J. Biol. Chem. 278 (52): 53082–9. doi:10.1074/jbc.M306861200. PMID 14565956.
- Bathelier C, François M, Lucotte G (2004). "Neonatal detection of the 35delG mutation of the GJB2 gene in families at risk for deafness". Genet. Couns. 15 (1): 61–6. PMID 15083701.
- Degen J, Meier C, Van Der Giessen RS, et al. (2004). "Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice". J. Comp. Neurol. 473 (4): 511–25. doi:10.1002/cne.20085. PMID 15116387.
- Mas C, Taske N, Deutsch S, et al. (2004). "Association of the connexin36 gene with juvenile myoclonic epilepsy". J. Med. Genet. 41 (7): e93. doi:10.1136/jmg.2003.017954. PMC 1735851. PMID 15235036.
- Dobrenis K, Chang HY, Pina-Benabou MH, et al. (2006). "Human and mouse microglia express connexin36, and functional gap junctions are formed between rodent microglia and neurons". J. Neurosci. Res. 82 (3): 306–15. doi:10.1002/jnr.20650. PMC 2583240. PMID 16211561.
- Hempelmann A, Heils A, Sander T (2006). "Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy". Epilepsy Res. 71 (2–3): 223–8. doi:10.1016/j.eplepsyres.2006.06.021. PMID 16876983.
- Aleksic B, Ishihara R, Takahashi N, et al. (2007). "Gap junction coding genes and schizophrenia: a genetic association study". J. Hum. Genet. 52 (6): 498–501. doi:10.1007/s10038-007-0142-5. PMID 17427027.
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