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{{Infobox_gene}}
{{PBB_Controls
{{Infobox protein family
| update_page = yes
| Symbol = Connexin50
| require_manual_inspection = no
| Name = Connexin50
| update_protein_box = yes
| image =
| update_summary = yes
| width =
| update_citations = yes
| caption =
| Pfam = PF03509
| Pfam_clan = 
| InterPro = IPR002266
| SMART =
| PROSITE =
| MEROPS =
| SCOP =
| TCDB =  
| OPM family =  
| OPM protein =  
| CAZy =  
| CDD =  
}}
}}
'''Gap junction alpha-8 protein''' is a [[protein]] that in humans is encoded by the ''GJA8'' [[gene]].<ref name="pmid9497259">{{cite journal |vauthors=Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S | title = A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q | journal = Am J Hum Genet | volume = 62 | issue = 3 | pages = 526–32 |date=Apr 1998 | pmid = 9497259 | pmc = 1376956 | doi = 10.1086/301762 }}</ref><ref name="pmid7796604">{{cite journal |vauthors=Church RL, Wang JH, Steele E | title = The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping | journal = Curr Eye Res | volume = 14 | issue = 3 | pages = 215–21 |date=Aug 1995 | pmid = 7796604 | pmc =  | doi =10.3109/02713689509033517  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2703| accessdate = }}</ref> It is also known as connexin 50.


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==Related gene problems==
{{GNF_Protein_box
*[[1q21.1 deletion syndrome]]<ref name="Mefford">{{cite journal |vauthors=Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D | title = Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | journal = N. Engl. J. Med. | volume = 359 | issue = 16 | pages = 1685–99 |date=October 2008 | pmid = 18784092 | pmc = 2703742 | doi = 10.1056/NEJMoa0805384 |display-authors=etal}}</ref>
| image =
*[[1q21.1 duplication syndrome]]<ref name="Mefford"/>
| image_source =
*[[microphthalmia]]<ref name="pmid11782410">{{cite journal |vauthors=Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, Dunia I, Levy E, Gong X | title = Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation | journal = Development | volume = 129 | issue = 1 | pages = 167–74 |date=January 2002 | pmid = 11782410 | doi = | url = http://dev.biologists.org/content/129/1/167.long  }}</ref> and other vision pathologies
| PDB =  
| Name = Gap junction protein, alpha 8, 50kDa
| HGNCid = 4281
| Symbol = GJA8
| AltSymbols =; CAE; CAE1; CX50; CZP1; MP70
| OMIM = 600897
| ECnumber = 
| Homologene = 3857
| MGIid = 99953
| GeneAtlas_image1 = PBB_GE_GJA8_208489_at_tn.png
| Function = {{GNF_GO|id=GO:0015267 |text = channel activity}} {{GNF_GO|id=GO:0015285 |text = gap-junction channel activity}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0005922 |text = connexon complex}} {{GNF_GO|id=GO:0016020 |text = membrane}}  
| Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0007154 |text = cell communication}} {{GNF_GO|id=GO:0007601 |text = visual perception}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2703
    | Hs_Ensembl = ENSG00000121634
    | Hs_RefseqProtein = NP_005258
    | Hs_RefseqmRNA = NM_005267
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 145841560
    | Hs_GenLoc_end = 145848017
    | Hs_Uniprot = P48165
    | Mm_EntrezGene = 14616
    | Mm_Ensembl = ENSMUSG00000049908
    | Mm_RefseqmRNA = NM_008123
    | Mm_RefseqProtein = NP_032149
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 97004427
    | Mm_GenLoc_end = 97005749
    | Mm_Uniprot = Q548M7
  }}
}}
'''Gap junction protein, alpha 8, 50kDa''', also known as '''GJA8''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2703| accessdate = }}</ref>


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==Interactions==
{{PBB_Summary
GJA8 has been shown to [[Protein-protein interaction|interact]] with [[Tight junction protein 1]].<ref name="pmid12808044">{{cite journal |vauthors=Nielsen PA, Baruch A, Shestopalov VI, Giepmans BN, Dunia I, Benedetti EL, Kumar NM | title = Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1) | journal = Mol. Biol. Cell | volume = 14 | issue = 6 | pages = 2470–81 |date=June 2003 | pmid = 12808044 | pmc = 194895 | doi = 10.1091/mbc.E02-10-0637 }}</ref>
| section_title =  
| summary_text =  
}}


==References==
==References==
{{reflist|2}}
{{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=Cook PJ, Hamerton JL |title=Report of the committee on the genetic constitution of chromosome 1. |journal=Cytogenet. Cell Genet. |volume=25 |issue= 1-4 |pages= 9–20 |year= 1980 |pmid= 396131 |doi=10.1159/000131394 }}
*{{cite journal  | author=Cook PJ, Hamerton JL |title=Report of the committee on the genetic constitution of chromosome 1. |journal=Cytogenet. Cell Genet. |volume=25 |issue= 1-4 |pages= 9-20 |year= 1980 |pmid= 396131 |doi=  }}
*{{cite journal  |vauthors=Jarvis LJ, Louis CF |title=The permeability of reconstituted liposomes containing the purified lens fiber cell integral membrane proteins MP20, MP26 and MP70. |journal=J. Membr. Biol. |volume=130 |issue= 3 |pages= 251–63 |year= 1993 |pmid= 1491428 |doi=  10.1007/bf00240482}}
*{{cite journal  | author=Jarvis LJ, Louis CF |title=The permeability of reconstituted liposomes containing the purified lens fiber cell integral membrane proteins MP20, MP26 and MP70. |journal=J. Membr. Biol. |volume=130 |issue= 3 |pages= 251-63 |year= 1993 |pmid= 1491428 |doi=  }}
*{{cite journal  |vauthors=Church RL, Wang JH, Steele E |title=The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. |journal=Curr. Eye Res. |volume=14 |issue= 10 |pages= 979–81 |year= 1996 |pmid= 8549164 |doi=10.3109/02713689508995138 }}
*{{cite journal  | author=Church RL, Wang JH, Steele E |title=The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. |journal=Curr. Eye Res. |volume=14 |issue= 3 |pages= 215-21 |year= 1995 |pmid= 7796604 |doi=  }}
*{{cite journal  |vauthors=Geyer DD, Church RL, Steele EC |title=Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1. |journal=Mol. Vis. |volume=3 |issue=  |pages= 13 |year= 1998 |pmid= 9479004 |doi=  |display-authors=etal}}
*{{cite journal  | author=Church RL, Wang JH, Steele E |title=The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping. |journal=Curr. Eye Res. |volume=14 |issue= 10 |pages= 979-81 |year= 1996 |pmid= 8549164 |doi=  }}
*{{cite journal  |vauthors=Dunia I, Recouvreur M, Nicolas P |title=Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling. |journal=J. Cell Sci. |volume=111 |issue=  15|pages= 2109–20 |year= 1998 |pmid= 9664032 |doi=  |display-authors=etal}}
*{{cite journal  | author=Geyer DD, Church RL, Steele EC, ''et al.'' |title=Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1. |journal=Mol. Vis. |volume=3 |issue=  |pages= 13 |year= 1998 |pmid= 9479004 |doi=  }}
*{{cite journal  |vauthors=Hopperstad MG, Srinivas M, Spray DC |title=Properties of gap junction channels formed by Cx46 alone and in combination with Cx50. |journal=Biophys. J. |volume=79 |issue= 4 |pages= 1954–66 |year= 2000 |pmid= 11023900 |doi=10.1016/S0006-3495(00)76444-7  | pmc=1301086 }}
*{{cite journal  | author=Shiels A, Mackay D, Ionides A, ''et al.'' |title=A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. |journal=Am. J. Hum. Genet. |volume=62 |issue= 3 |pages= 526-32 |year= 1998 |pmid= 9497259 |doi= }}
*{{cite journal  |vauthors=Xu X, Berthoud VM, Beyer EC, Ebihara L |title=Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels. |journal=J. Membr. Biol. |volume=186 |issue= 2 |pages= 101–12 |year= 2002 |pmid= 11944087 |doi= 10.1007/s00232-001-0139-5 | pmc=2744361 }}
*{{cite journal  | author=Dunia I, Recouvreur M, Nicolas P, ''et al.'' |title=Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling. |journal=J. Cell. Sci. |volume=111 ( Pt 15) |issue=  |pages= 2109-20 |year= 1998 |pmid= 9664032 |doi=  }}
*{{cite journal  |vauthors=Nielsen PA, Baruch A, Shestopalov VI |title=Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1). |journal=Mol. Biol. Cell |volume=14 |issue= 6 |pages= 2470–81 |year= 2004 |pmid= 12808044 |doi= 10.1091/mbc.E02-10-0637 | pmc=194895 |display-authors=etal}}
*{{cite journal  | author=Hopperstad MG, Srinivas M, Spray DC |title=Properties of gap junction channels formed by Cx46 alone and in combination with Cx50. |journal=Biophys. J. |volume=79 |issue= 4 |pages= 1954-66 |year= 2000 |pmid= 11023900 |doi=  }}
*{{cite journal  |vauthors=Arora A, Minogue PJ, Liu X |title=A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. |journal=J. Med. Genet. |volume=43 |issue= 1 |pages= e2 |year= 2006 |pmid= 16397066 |doi= 10.1136/jmg.2005.034108 | pmc=2564510 |display-authors=etal}}
*{{cite journal  | author=Xu X, Berthoud VM, Beyer EC, Ebihara L |title=Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels. |journal=J. Membr. Biol. |volume=186 |issue= 2 |pages= 101-12 |year= 2002 |pmid= 11944087 |doi= 10.1007/s00232-001-0139-5 }}
*{{cite journal  |vauthors=Devi RR, Vijayalakshmi P |title=Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. |journal=Mol. Vis. |volume=12 |issue=  |pages= 190–5 |year= 2006 |pmid= 16604058 |doi=  }}
*{{cite journal  | author=Nielsen PA, Baruch A, Shestopalov VI, ''et al.'' |title=Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1). |journal=Mol. Biol. Cell |volume=14 |issue= 6 |pages= 2470-81 |year= 2004 |pmid= 12808044 |doi= 10.1091/mbc.E02-10-0637 }}
*{{cite journal  |vauthors=Zhang X, Zou T, Liu Y, Qi Y |title=The gating effect of calmodulin and calcium on the connexin50 hemichannel. |journal=Biol. Chem. |volume=387 |issue= 5 |pages= 595–601 |year= 2006 |pmid= 16740131 |doi= 10.1515/BC.2006.076 }}
*{{cite journal  | author=Arora A, Minogue PJ, Liu X, ''et al.'' |title=A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. |journal=J. Med. Genet. |volume=43 |issue= 1 |pages= e2 |year= 2006 |pmid= 16397066 |doi= 10.1136/jmg.2005.034108 }}
*{{cite journal  |vauthors=Ni X, Valente J, Azevedo MH |title=Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies. |journal=J. Med. Genet. |volume=44 |issue= 8 |pages= 532–6 |year= 2007 |pmid= 17412882 | pmc=2597930 |doi= 10.1136/jmg.2006.047944 |display-authors=etal}}
*{{cite journal  | author=Devi RR, Vijayalakshmi P |title=Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. |journal=Mol. Vis. |volume=12 |issue=  |pages= 190-5 |year= 2006 |pmid= 16604058 |doi=  }}
*{{cite journal  |vauthors=Kotsias BA, Salim M, Peracchia LL, Peracchia C |title=Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. |journal=J. Membr. Biol. |volume=214 |issue= 1 |pages= 1–8 |year= 2007 |pmid= 17546509 |doi= 10.1007/s00232-006-0064-8 }}
*{{cite journal  | author=Zhang X, Zou T, Liu Y, Qi Y |title=The gating effect of calmodulin and calcium on the connexin50 hemichannel. |journal=Biol. Chem. |volume=387 |issue= 5 |pages= 595-601 |year= 2006 |pmid= 16740131 |doi= 10.1515/BC.2006.076 }}
*{{cite journal  |vauthors=Hansen L, Yao W, Eiberg H |title=Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 9 |pages= 3937–44 |year= 2007 |pmid= 17724170 |doi= 10.1167/iovs.07-0013 |display-authors=etal}}
*{{cite journal  | author=Ni X, Valente J, Azevedo MH, ''et al.'' |title=Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies. |journal=J. Med. Genet. |volume=44 |issue= 8 |pages= 532-6 |year= 2007 |pmid= 17412882 |doi= 10.1136/jmg.2006.047944 }}
*{{cite journal  | author=Kotsias BA, Salim M, Peracchia LL, Peracchia C |title=Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes. |journal=J. Membr. Biol. |volume=214 |issue= 1 |pages= 1-8 |year= 2007 |pmid= 17546509 |doi= 10.1007/s00232-006-0064-8 }}
*{{cite journal  | author=Hansen L, Yao W, Eiberg H, ''et al.'' |title=Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. |journal=Invest. Ophthalmol. Vis. Sci. |volume=48 |issue= 9 |pages= 3937-44 |year= 2007 |pmid= 17724170 |doi= 10.1167/iovs.07-0013 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{Ion channels|g4}}
{{WikiDoc Sources}}
 
[[Category:Connexins]]
 
 
{{gene-1-stub}}

Revision as of 20:00, 8 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human
Connexin50
Identifiers
SymbolConnexin50
PfamPF03509
InterProIPR002266

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.[1][2][3] It is also known as connexin 50.

Related gene problems

Interactions

GJA8 has been shown to interact with Tight junction protein 1.[6]

References

  1. ↑ Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S (Apr 1998). "A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q". Am J Hum Genet. 62 (3): 526–32. doi:10.1086/301762. PMC 1376956. PMID 9497259.
  2. ↑ Church RL, Wang JH, Steele E (Aug 1995). "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping". Curr Eye Res. 14 (3): 215–21. doi:10.3109/02713689509033517. PMID 7796604.
  3. ↑ "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".
  4. ↑ 4.0 4.1 Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, et al. (October 2008). "Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes". N. Engl. J. Med. 359 (16): 1685–99. doi:10.1056/NEJMoa0805384. PMC 2703742. PMID 18784092.
  5. ↑ Rong P, Wang X, Niesman I, Wu Y, Benedetti LE, Dunia I, Levy E, Gong X (January 2002). "Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation". Development. 129 (1): 167–74. PMID 11782410.
  6. ↑ Nielsen PA, Baruch A, Shestopalov VI, Giepmans BN, Dunia I, Benedetti EL, Kumar NM (June 2003). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. PMC 194895. PMID 12808044.

Further reading


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