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'''Gap junction protein, alpha 5, 40kDa''', also known as '''GJA5''', is a human [[gene]].
{{redirect|Cx40|the joystick|Atari CX40}}
{{Infobox_gene}}
'''Gap junction alpha-5 protein''' (GJA5), also known as '''connexin 40''' (Cx40) — is a [[protein]] that in humans is encoded by the ''GJA5'' [[gene]].


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{PBB_Summary
 
| section_title =
This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described.<ref name="entrez">{{cite web | title = Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2702| accessdate = }}</ref>
| summary_text = This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described.<ref name="entrez">{{cite web | title = Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2702| accessdate = }}</ref>
 
}}
GJA5 has been identified as the gene that is responsible for the phenotypes observed with congenital heart diseases on the 1q21.1 location. In case of a duplication of GJA5 [[tetralogy of Fallot]] is more common. In case of a deletion other congenital heart diseases than tetralogy of Fallot are more common.<ref>{{cite journal |author=Soemedi, R. |title=DPhenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls  |journal=Hum. Mol. Genet. |year=2011 |doi=10.1093/hmg/ddr589 |display-authors=etal |volume=21 |pages=1513–1520 |pmid=22199024 |pmc=3298277}}</ref>
 
==Related gene problems==
*[[1q21.1 deletion syndrome]]
*[[1q21.1 duplication syndrome]]


==See also==
==See also==
Line 13: Line 19:
==References==
==References==
{{reflist}}
{{reflist}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite book|author1=Andrew L Harris |author2=Darren Locke | title = Connexins, A Guide | publisher = Springer | date = 2009 | location = New York | pages = 574 | url = https://www.springer.com/978-1-934115-46-6  | isbn = 978-1-934115-46-6}}
| citations =
*{{cite journal  |vauthors=Teunissen BE, Bierhuizen MF |title=Transcriptional control of myocardial connexins. |journal=Cardiovasc. Res. |volume=62 |issue= 2 |pages= 246–55 |year= 2004 |pmid= 15094345 |doi= 10.1016/j.cardiores.2003.12.011 }}
*{{cite book| author = Andrew L Harris and Darren Locke | title = Connexins, A Guide | publisher = Springer | date = 2009 | location = New York | pages = 574 | url = http://www.springer.com/978-1-934115-46-6  | isbn = 978-1-934115-46-6}}
*{{cite journal  |vauthors=Kanter HL, Saffitz JE, Beyer EC |title=Cardiac myocytes express multiple gap junction proteins. |journal=Circ. Res. |volume=70 |issue= 2 |pages= 438–44 |year= 1992 |pmid= 1310450 |doi=  10.1161/01.res.70.2.438}}
*{{cite journal  | author=Teunissen BE, Bierhuizen MF |title=Transcriptional control of myocardial connexins. |journal=Cardiovasc. Res. |volume=62 |issue= 2 |pages= 246–55 |year= 2004 |pmid= 15094345 |doi= 10.1016/j.cardiores.2003.12.011 }}
*{{cite journal  | author=Willecke K |title=Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes |journal=Eur. J. Cell Biol. |volume=53 |issue= 2 |pages= 275–80 |year= 1991 |pmid= 1964417 |doi=  | author2=Jungbluth S | author3=Dahl E  | display-authors=3  | last4=Hennemann  | first4=H  | last5=Heynkes  | first5=R  | last6=Grzeschik  | first6=KH  }}
*{{cite journal  | author=Kanter HL, Saffitz JE, Beyer EC |title=Cardiac myocytes express multiple gap junction proteins. |journal=Circ. Res. |volume=70 |issue= 2 |pages= 438–44 |year= 1992 |pmid= 1310450 |doi=  }}
*{{cite journal  | author=Chen SC |title=Expression of multiple gap junction proteins in human fetal and infant hearts |journal=Pediatr. Res. |volume=36 |issue= 5 |pages= 561–6 |year= 1995 |pmid= 7877871 |doi= 10.1203/00006450-199411000-00002| author2=Davis LM  | author3=Westphale EM | display-authors=3  | last4=Beyer  | first4=EC  | last5=Saffitz  | first5=JE  }}
*{{cite journal  | author=Willecke K, Jungbluth S, Dahl E, ''et al.'' |title=Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. |journal=Eur. J. Cell Biol. |volume=53 |issue= 2 |pages= 275–80 |year= 1991 |pmid= 1964417 |doi=  }}
*{{cite journal |vauthors=Kanter HL, Saffitz JE, Beyer EC |title=Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45 |journal=J. Mol. Cell. Cardiol. |volume=26 |issue= 7 |pages= 861–8 |year= 1994 |pmid= 7966354 |doi= 10.1006/jmcc.1994.1103 }}
*{{cite journal | author=Chen SC, Davis LM, Westphale EM, ''et al.'' |title=Expression of multiple gap junction proteins in human fetal and infant hearts. |journal=Pediatr. Res. |volume=36 |issue= 5 |pages= 561–6 |year= 1995 |pmid= 7877871 |doi=  }}
*{{cite journal  | author=Mehta PP |title=Gap-junctional communication in normal and neoplastic prostate epithelial cells and its regulation by cAMP |journal=Mol. Carcinog. |volume=15 |issue= 1 |pages= 18–32 |year= 1996 |pmid= 8561862 |doi= 10.1002/(SICI)1098-2744(199601)15:1<18::AID-MC4>3.0.CO;2-O | author2=Lokeshwar BL  | author3=Schiller PC  | display-authors=3  | last4=Bendix  | first4=Marcelo V. | last5=Ostenson  | first5=Richard C.  | last6=Howard  | first6=Guy A.  | last7=Roos  | first7=Bernard A. }}
*{{cite journal  | author=Kanter HL, Saffitz JE, Beyer EC |title=Molecular cloning of two human cardiac gap junction proteins, connexin40 and connexin45. |journal=J. Mol. Cell. Cardiol. |volume=26 |issue= 7 |pages= 861–8 |year= 1994 |pmid= 7966354 |doi= 10.1006/jmcc.1994.1103 }}
*{{cite journal  | author=Gelb BD |title=Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21 |journal=Genomics |volume=39 |issue= 3 |pages= 409–11 |year= 1997 |pmid= 9119381 |doi= 10.1006/geno.1996.4516 | author2=Zhang J  | author3=Cotter PD  | display-authors=3  | last4=Gershin  | first4=IF  | last5=Desnick  | first5=RJ }}
*{{cite journal | author=Mehta PP, Lokeshwar BL, Schiller PC, ''et al.'' |title=Gap-junctional communication in normal and neoplastic prostate epithelial cells and its regulation by cAMP. |journal=Mol. Carcinog. |volume=15 |issue= 1 |pages= 18–32 |year= 1996 |pmid= 8561862 |doi= 10.1002/(SICI)1098-2744(199601)15:1<18::AID-MC4>3.0.CO;2-O }}
*{{cite journal  | author=Kilarski WM |title=Identification of two further gap-junctional proteins, connexin40 and connexin45, in human myometrial smooth muscle cells at term |journal=Eur. J. Cell Biol. |volume=75 |issue= 1 |pages= 1–8 |year= 1998 |pmid= 9523149 |doi= 10.1016/S0171-9335(98)80040-X| author2=Dupont E | author3=Coppen S  | display-authors=3  | last4=Yeh  | first4=HI  | last5=Vozzi  | first5=C  | last6=Gourdie  | first6=RG  | last7=Rezapour  | first7=M  | last8=Ulmsten  | first8=U  | last9=Roomans  | first9=GM  }}
*{{cite journal  | author=Gelb BD, Zhang J, Cotter PD, ''et al.'' |title=Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21. |journal=Genomics |volume=39 |issue= 3 |pages= 409–11 |year= 1997 |pmid= 9119381 |doi= 10.1006/geno.1996.4516 }}
*{{cite journal  |vauthors=van Rijen HV, van Kempen MJ, Postma S, Jongsma HJ |title=Tumour necrosis factor alpha alters the expression of connexin43, connexin40, and connexin37 in human umbilical vein endothelial cells |journal=Cytokine |volume=10 |issue= 4 |pages= 258–64 |year= 1998 |pmid= 9617570 |doi= 10.1006/cyto.1997.0287 }}
*{{cite journal | author=Kilarski WM, Dupont E, Coppen S, ''et al.'' |title=Identification of two further gap-junctional proteins, connexin40 and connexin45, in human myometrial smooth muscle cells at term. |journal=Eur. J. Cell Biol. |volume=75 |issue= 1 |pages= 1–8 |year= 1998 |pmid= 9523149 |doi= }}
*{{cite journal  | author=Vozzi C |title=Chamber-related differences in connexin expression in the human heart |journal=J. Mol. Cell. Cardiol. |volume=31 |issue= 5 |pages= 991–1003 |year= 1999 |pmid= 10336839 |doi= 10.1006/jmcc.1999.0937  | author2=Dupont E  | author3=Coppen SR  | display-authors=3  | last4=Yeh  | first4=HI  | last5=Severs | first5=NJ }}
*{{cite journal  | author=van Rijen HV, van Kempen MJ, Postma S, Jongsma HJ |title=Tumour necrosis factor alpha alters the expression of connexin43, connexin40, and connexin37 in human umbilical vein endothelial cells. |journal=Cytokine |volume=10 |issue= 4 |pages= 258–64 |year= 1998 |pmid= 9617570 |doi= 10.1006/cyto.1997.0287 }}
*{{cite journal  |vauthors=Haefliger JA, Goy JJ, Waeber G |title=Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes |journal=Eur. Heart J. |volume=20 |issue= 24 |pages= 1843 |year= 2000 |pmid= 10581143 |doi= 10.1053/euhj.1999.1718 }}
*{{cite journal | author=Vozzi C, Dupont E, Coppen SR, ''et al.'' |title=Chamber-related differences in connexin expression in the human heart. |journal=J. Mol. Cell. Cardiol. |volume=31 |issue= 5 |pages= 991–1003 |year= 1999 |pmid= 10336839 |doi= 10.1006/jmcc.1999.0937 }}
*{{cite journal  |vauthors=van Rijen HV, van Veen TA, Hermans MM, Jongsma HJ |title=Human connexin40 gap junction channels are modulated by cAMP |journal=Cardiovasc. Res. |volume=45 |issue= 4 |pages= 941–51 |year= 2000 |pmid= 10728420 |doi=10.1016/S0008-6363(99)00373-9 }}
*{{cite journal | author=Haefliger JA, Goy JJ, Waeber G |title=Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes. |journal=Eur. Heart J. |volume=20 |issue= 24 |pages= 1843 |year= 2000 |pmid= 10581143 |doi= 10.1053/euhj.1999.1718 }}
*{{cite journal  |vauthors=Oviedo-Orta E, Hoy T, Evans WH |title=Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulations |journal=Immunology |volume=99 |issue= 4 |pages= 578–90 |year= 2000 |pmid= 10792506 |doi=10.1046/j.1365-2567.2000.00991.x  | pmc=2327182  }}
*{{cite journal  | author=van Rijen HV, van Veen TA, Hermans MM, Jongsma HJ |title=Human connexin40 gap junction channels are modulated by cAMP. |journal=Cardiovasc. Res. |volume=45 |issue= 4 |pages= 941–51 |year= 2000 |pmid= 10728420 |doi=10.1016/S0008-6363(99)00373-9  }}
*{{cite journal  | author=Vis JC |title=Connexin expression in Huntington's diseased human brain |journal=Cell Biol. Int. |volume=22 |issue= 11–12 |pages= 837–47 |year= 2002 |pmid= 10873295 |doi= 10.1006/cbir.1998.0388 | author2=Nicholson LF | author3=Faull RL  | display-authors=3  | last4=Evans  | first4=WH  | last5=Severs  | first5=NJ  | last6=Green  | first6=CR }}
*{{cite journal  | author=Oviedo-Orta E, Hoy T, Evans WH |title=Intercellular communication in the immune system: differential expression of connexin40 and 43, and perturbation of gap junction channel functions in peripheral blood and tonsil human lymphocyte subpopulations. |journal=Immunology |volume=99 |issue= 4 |pages= 578–90 |year= 2000 |pmid= 10792506 |doi=10.1046/j.1365-2567.2000.00991.x }}
*{{cite journal  |vauthors=Valiunas V, Gemel J, Brink PR, Beyer EC |title=Gap junction channels formed by coexpressed connexin40 and connexin43 |journal=Am. J. Physiol. Heart Circ. Physiol. |volume=281 |issue= 4 |pages= H1675–89 |year= 2001 |pmid= 11557558 |doi= }}
*{{cite journal  | author=Vis JC, Nicholson LF, Faull RL, ''et al.'' |title=Connexin expression in Huntington's diseased human brain. |journal=Cell Biol. Int. |volume=22 |issue= 11-12 |pages= 837–47 |year= 2002 |pmid= 10873295 |doi= 10.1006/cbir.1998.0388 }}
*{{cite journal  | author=Kaba RA |title=Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts |journal=Cell Commun. Adhes. |volume=8 |issue= 4–6 |pages= 339–43 |year= 2003 |pmid= 12064615 |doi=10.3109/15419060109080750  | author2=Coppen SR  | author3=Dupont E  | display-authors=3  | last4=Skepper  | first4=Jeremy N.  | last5=Elneil  | first5=Suzy  | last6=Haw  | first6=Marcus P.  | last7=Pepper  | first7=John R.  | last8=Yacoub  | first8=Magdi H.  | last9=Rothery  | first9=Stephen  }}
*{{cite journal  | author=Valiunas V, Gemel J, Brink PR, Beyer EC |title=Gap junction channels formed by coexpressed connexin40 and connexin43. |journal=Am. J. Physiol. Heart Circ. Physiol. |volume=281 |issue= 4 |pages= H1675–89 |year= 2001 |pmid= 11557558 |doi=  }}
*{{cite journal  | author=Cronier L |title=Connexin expression and gap junctional intercellular communication in human first trimester trophoblast |journal=Mol. Hum. Reprod. |volume=8 |issue= 11 |pages= 1005–13 |year= 2003 |pmid= 12397213 |doi=10.1093/molehr/8.11.1005  | author2=Defamie N  | author3=Dupays L  | display-authors=3  | last4=Théveniau-Ruissy  | first4=M  | last5=Goffin  | first5=F  | last6=Pointis  | first6=G  | last7=Malassiné  | first7=A  |url=http://orbi.ulg.ac.be/bitstream/2268/139848/1/Cronier%20L%20MHR%202002.pdf}}
*{{cite journal  | author=Kaba RA, Coppen SR, Dupont E, ''et al.'' |title=Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts. |journal=Cell Commun. Adhes. |volume=8 |issue= 4-6 |pages= 339–43 |year= 2003 |pmid= 12064615 |doi=10.3109/15419060109080750  }}
*{{cite journal  |vauthors=Simon AM, McWhorter AR |title=Vascular abnormalities in mice lacking the endothelial gap junction proteins connexin37 and connexin40 |journal=Dev. Biol. |volume=251 |issue= 2 |pages= 206–20 |year= 2002 |pmid= 12435353 |doi=10.1006/dbio.2002.0826  }}
*{{cite journal  | author=Cronier L, Defamie N, Dupays L, ''et al.'' |title=Connexin expression and gap junctional intercellular communication in human first trimester trophoblast. |journal=Mol. Hum. Reprod. |volume=8 |issue= 11 |pages= 1005–13 |year= 2003 |pmid= 12397213 |doi=10.1093/molehr/8.11.1005 }}
*{{cite journal  | author=Strausberg RL |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  | pmc=139241  | author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal | author=Simon AM, McWhorter AR |title=Vascular abnormalities in mice lacking the endothelial gap junction proteins connexin37 and connexin40. |journal=Dev. Biol. |volume=251 |issue= 2 |pages= 206–20 |year= 2002 |pmid= 12435353 |doi=10.1006/dbio.2002.0826  }}
*{{cite journal  | author=Dupays L |title=Genomic organization and alternative transcripts of the human Connexin40 gene |journal=Gene |volume=305 |issue= 1 |pages= 79–90 |year= 2003 |pmid= 12594044 |doi=10.1016/S0378-1119(02)01229-5  | author2=Mazurais D  | author3=Rücker-Martin C  | display-authors=3  | last4=Calmels  | first4=T  | last5=Bernot  | first5=D  | last6=Cronier  | first6=L  | last7=Malassiné  | first7=A  | last8=Gros  | first8=D  | last9=Théveniau-Ruissy  | first9=M }}
*{{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  | author=Dupays L, Mazurais D, Rücker-Martin C, ''et al.'' |title=Genomic organization and alternative transcripts of the human Connexin40 gene. |journal=Gene |volume=305 |issue= 1 |pages= 79–90 |year= 2003 |pmid= 12594044 |doi=10.1016/S0378-1119(02)01229-5 }}
}}
{{refend}}
{{refend}}
{{Ion channels|g4}}
[[Category:Connexins]]


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Latest revision as of 22:54, 4 October 2018

"Cx40" redirects here. For the joystick, see Atari CX40.
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External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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RefSeq (mRNA)

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Wikidata
View/Edit Human

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

Function

This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene may be associated with atrial fibrillation. Alternatively spliced transcript variants encoding the same isoform have been described.[1]

GJA5 has been identified as the gene that is responsible for the phenotypes observed with congenital heart diseases on the 1q21.1 location. In case of a duplication of GJA5 tetralogy of Fallot is more common. In case of a deletion other congenital heart diseases than tetralogy of Fallot are more common.[2]

Related gene problems

See also

References

  1. ↑ "Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa".
  2. ↑ Soemedi, R.; et al. (2011). "DPhenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls". Hum. Mol. Genet. 21: 1513–1520. doi:10.1093/hmg/ddr589. PMC 3298277. PMID 22199024.

Further reading


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