GJA1 Back

gap junction protein, alpha 1, 43kDa

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of GJA1
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. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia and heart malformations.

Community Annotation of GJA1 Add / Edit GJA1: Annotations

No community annotations yet for GJA1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

GJA1 is highly significantly mutated in
(none)
GJA1 is significantly mutated in
(none)
GJA1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for GJA1