GJA8

GJA8
Identifiers
Aliases GJA8, CAE, CAE1, CTRCT1, CX50, CZP1, MP70, gap junction protein alpha 8
External IDs MGI: 99953 HomoloGene: 3857 GeneCards: GJA8
Targeted by Drug
carbenoxolone, flufenamic acid, caprylic alcohol[1]
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

2703

14616

Ensembl

ENSG00000121634

ENSMUSG00000049908

UniProt

P48165

P28236

RefSeq (mRNA)

NM_005267

NM_008123

RefSeq (protein)

NP_005258.2

NP_032149.1

Location (UCSC) Chr 1: 147.91 – 147.91 Mb Chr 3: 96.91 – 96.93 Mb
PubMed search [2] [3]
Wikidata
View/Edit HumanView/Edit Mouse
Connexin50
Identifiers
Symbol Connexin50
Pfam PF03509
InterPro IPR002266

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene.[4][5][6] It is also known as connexin 50.

Related gene problems

Interactions

GJA8 has been shown to interact with Tight junction protein 1.[9]

References

  1. "Drugs that physically interact with Gap junction alpha-8 protein view/edit references on wikidata".
  2. "Human PubMed Reference:".
  3. "Mouse PubMed Reference:".
  4. 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 1376956Freely accessible. PMID 9497259.
  5. 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.
  6. "Entrez Gene: GJA8 gap junction protein, alpha 8, 50kDa".
  7. 1 2 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 2703742Freely accessible. PMID 18784092.
  8. 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.
  9. 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 194895Freely accessible. PMID 12808044.

Further reading


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