Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene. 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. 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.
Background References
1. Wang J et al. A novel GJA5 variant associated with increased risk of essential hypertension. Am J Transl Res. 2023 Feb
2. Li J et al. Cis-acting mutation affecting GJA5 transcription is underlying the Melanotic within-feather pigmentation pattern in chickens. Proc Natl Acad Sci U S A. 2021 Oct
Western blot analysis of Cx40 / GJA5 on different lysates with Rabbit anti-Cx40 / GJA5 antibody (HA723249) at 1/2,000 dilution.
Lane 1: HEK-293 cell lysate (20 µg/Lane) Lane 2: HeLa cell lysate (20 µg/Lane) Lane 3: NIH/3T3 cell lysate (20 µg/Lane) Lane 4: F9 cell lysate (20 µg/Lane) Lane 5: COS-1 cell lysate (20 µg/Lane) Lane 6: Mouse lung tissue lysate (40 µg/Lane) Lane 7: Rat lung tissue lysate (40 µg/Lane)
Predicted band size: 40 kDa Observed band size: 40 kDa
Exposure time: 25 seconds; ECL: K1801;
4-20% SDS-PAGE gel.
Proteins were transferred to a PVDF membrane and blocked with 5% NFDM/TBST for 1 hour at room temperature. The primary antibody (HA723249) at 1/2,000 dilution was used in 5% NFDM/TBST at 4℃ overnight. Goat Anti-Rabbit IgG - HRP Secondary Antibody (HA1001) at 1/50,000 dilution was used for 1 hour at room temperature.
Cx40 / GJA5 was immunoprecipitated from 0.2 mg HepG2 cell lysate with HA723249 at 2 µg/10 µl beads. Western blot was performed from the immunoprecipitate using HA723249 at 1/1,000 dilution. HRP Conjugated Anti-Rabbit IgG for IP Nano-secondary antibody at 1/5,000 dilution was used for 1 hour at room temperature.
Lane 1: HepG2 cell lysate (input) Lane 2: HA723249 IP in HepG2 cell lysate Lane 3: Rabbit IgG instead of HA723249 in HepG2 cell lysate