GJA8

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; OMA:GJA8 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q21.2 Start 147,902,795 bp[1] End 147,909,269 bp[1]
Gene location (Mouse) Chr. Chromosome 3 (mouse)[2] Band 3 F2.1|3 Start 96,820,882 bp[2] End 96,833,336 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in left testis right testis muscle tissue kidney human kidney connective tissue smooth muscle tissue adipose tissue right lobe of liver viscus Top expressed in lens epithelium of lens neural layer of retina tail of embryo sternocleidomastoid muscle More reference expression data BioGPS 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 Species Human Mouse Entrez 2703 14616 Ensembl ENSG00000121634 ENSMUSG00000049908 UniProt P48165 P28236 RefSeq (mRNA) NM_005267 NM_008123 RefSeq (protein) NP_005258 NP_032149 Location (UCSC) Chr 1: 147.9 – 147.91 Mb Chr 3: 96.82 – 96.83 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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.

Related gene problems

• 1q21.1 deletion syndrome^[8]
• 1q21.1 duplication syndrome^[8]
• microphthalmia^[9] and other vision pathologies

Interactions

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

References

1. GRCh38: Ensembl release 89: ENSG00000121634 – Ensembl, May 2017
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.
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.
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.
7. "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".
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.
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.
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.

Further reading

• 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.