GJA5

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Gap junction protein, alpha 5, 40kDa
Identifiers
Symbols GJA5 ; ATFB11; CX40
External IDs OMIM121013 MGI95716 HomoloGene3856 IUPHAR: Cx40 GeneCards: GJA5 Gene
RNA expression pattern
PBB GE GJA5 214466 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2702 14613
Ensembl ENSG00000143140 ENSMUSG00000057123
UniProt P36382 Q01231
RefSeq (mRNA) NM_005266 NM_001271628
RefSeq (protein) NP_005257 NP_001258557
Location (UCSC) Chr 1:
147.23 – 147.25 Mb
Chr 3:
97.03 – 97.05 Mb
PubMed search [1] [2]

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

Function

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.1

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.2

Related gene problems

See also

References

  1. ^ "Entrez Gene: GJA5 gap junction protein, alpha 5, 40kDa". 
  2. ^ Soemedi, R. et al. (2011). "DPhenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls". Hum. Mol. Genet. doi:10.1093/hmg/ddr589. 

Further reading








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