GJA8

Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

Connexin50
Connexin50
Identifiers
Symbol	Connexin50
Pfam	PF03509
InterPro	IPR002266
Pfam
Available protein structures:
Pfam	structures / ECOD
PDB	RCSB PDB; PDBe; PDBj
PDBsum	structure summary

GJA8
Identifiers
Aliases	GJA8, CAE, CAE1, CTRCT1, CX50, CZP1, MP70, gap junction protein alpha 8
External IDs	OMIM: 600897 MGI: 99953 HomoloGene: 3857 GeneCards: GJA8
Gene location (Human)
Chr.	Chromosome 1 (human)
End	147,909,269 bp
Gene location (Mouse)
Chr.	Chromosome 3 (mouse)
End	96,833,336 bp
RNA expression pattern
	Top expressed in
	muscle tissue; ; kidney; ; kidney; ; connective tissue; ; smooth muscle tissue; ; adipose tissue; ; right lobe of liver; ; viscus; ; spleen; ; abdominal fat;
	Top expressed in
	lens; ; sternocleidomastoid muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	channel activity; gap junction channel activity;
Cellular component	integral component of membrane; gap junction; cell junction; plasma membrane; integral component of plasma membrane; connexin complex; membrane;
Biological process	cell communication; cell-cell signaling; camera-type eye development; lens development in camera-type eye; protein homooligomerization; transmembrane transport; visual perception; gap junction-mediated intercellular transport;
	Sources:Amigo / QuickGO
Orthologs
	2703
	14616
	ENSG00000121634
	ENSMUSG00000049908
	P48165
	P28236
	NM_005267
	NM_008123
	NP_005258
	NP_032149
	Wikidata
View/Edit Human	View/Edit Mouse

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.^[5]^[6]^[7] It is also known as connexin 50.

Interactions

GJA8 has been shown to interact with Tight junction protein 1.^[10]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000121634 - Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000049908 - 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.
^ 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.
^ 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.
^ "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".
^ ^a ^b 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.
^ 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. doi:10.1242/dev.129.1.167. PMID 11782410.
^ 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.

Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6.
Cook PJ, Hamerton JL (1980). "Report of the committee on the genetic constitution of chromosome 1". Cytogenet. Cell Genet. 25 (1–4): 9–20. doi:10.1159/000131394. PMID 396131.
Jarvis LJ, Louis CF (1993). "The permeability of reconstituted liposomes containing the purified lens fiber cell integral membrane proteins MP20, MP26 and MP70". J. Membr. Biol. 130 (3): 251–63. doi:10.1007/bf00240482. PMID 1491428. S2CID 2698192.
Church RL, Wang JH, Steele E (1996). "The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosome mapping". Curr. Eye Res. 14 (10): 979–81. doi:10.3109/02713689508995138. PMID 8549164.
Geyer DD, Church RL, Steele EC, et al. (1998). "Regional mapping of the human MP70 (Cx50; connexin 50) gene by fluorescence in situ hybridization to 1q21.1". Mol. Vis. 3: 13. PMID 9479004.
Dunia I, Recouvreur M, Nicolas P, et al. (1998). "Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling". J. Cell Sci. 111 (15): 2109–20. doi:10.1242/jcs.111.15.2109. PMID 9664032.
Hopperstad MG, Srinivas M, Spray DC (2000). "Properties of gap junction channels formed by Cx46 alone and in combination with Cx50". Biophys. J. 79 (4): 1954–66. Bibcode:2000BpJ....79.1954H. doi:10.1016/S0006-3495(00)76444-7. PMC 1301086. PMID 11023900.
Xu X, Berthoud VM, Beyer EC, Ebihara L (2002). "Functional role of the carboxyl terminal domain of human connexin 50 in gap junctional channels". J. Membr. Biol. 186 (2): 101–12. doi:10.1007/s00232-001-0139-5. PMC 2744361. PMID 11944087.
Nielsen PA, Baruch A, Shestopalov VI, et al. (2004). "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.
Arora A, Minogue PJ, Liu X, et al. (2006). "A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract". J. Med. Genet. 43 (1): e2. doi:10.1136/jmg.2005.034108. PMC 2564510. PMID 16397066.
Devi RR, Vijayalakshmi P (2006). "Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea". Mol. Vis. 12: 190–5. PMID 16604058.
Zhang X, Zou T, Liu Y, Qi Y (2006). "The gating effect of calmodulin and calcium on the connexin50 hemichannel". Biol. Chem. 387 (5): 595–601. doi:10.1515/BC.2006.076. PMID 16740131. S2CID 25915817.
Ni X, Valente J, Azevedo MH, et al. (2007). "Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia in matched case control and family-based studies". J. Med. Genet. 44 (8): 532–6. doi:10.1136/jmg.2006.047944. PMC 2597930. PMID 17412882.
Kotsias BA, Salim M, Peracchia LL, Peracchia C (2007). "Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes". J. Membr. Biol. 214 (1): 1–8. doi:10.1007/s00232-006-0064-8. PMID 17546509. S2CID 7095255.
Hansen L, Yao W, Eiberg H, et al. (2007). "Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8". Invest. Ophthalmol. Vis. Sci. 48 (9): 3937–44. doi:10.1167/iovs.07-0013. PMID 17724170.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121634 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000049908 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9497259-5] 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.

[pmid7796604-6] 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.

[entrez-7] "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".

[Mefford-8] 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.

[pmid11782410-9] 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. doi:10.1242/dev.129.1.167. PMID 11782410.

[pmid12808044-10] 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.

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GJA8

Related gene problems

Interactions

References

Further reading