GJA5 Gene Summary [Human]
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. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GJA5 |
| Official Name | gap junction protein alpha 5 [Source:HGNC Symbol;Acc:HGNC:4279] |
| Ensembl ID | ENSG00000265107 |
| Bio databases IDs | |
| Aliases | gap junction protein alpha 5, connexin 40 |
| Synonyms | 5730555N10Rik, ATFB11, Cnx40, Connexin40, CX40, Cxni, gap junction protein alpha 5, gap junction protein, alpha 5, gap junction protein α 5, gap junction protein, α 5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GJA5 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Connexin homologues
- Gap junction channel protein cysteine-rich domain
- channel/pore class transporter
- protein domain specific binding
- protein binding
- Connexin 40 C-terminal domain
- transporter
- Connexin
- gap-junction forming channel
Pathways
Biological processes and signaling networks where the GJA5 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- atrial fibrillation
- bleeding
- stenosis
- familial atrial fibrillation type 11
- intellectual disability and developmental delay
- ventricular septal defect
- dilated cardiomyopathy
- hypoplasia
- congenital heart disease
- congenital hypothyroidism
regulates
- reactive oxygen species
- PKA
- renin
- REN
- K+
role in cell
- production in
- growth
- aggregation
- activity
- coupling
- assembly
- elimination
- depolarization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cellular membrane
- intercellular junctions
- intercalated disks
- gap junctions
- cellular protrusions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GJA5 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- Purkinje myocyte to ventricular cardiac muscle cell communication by electrical coupling
- pulmonary valve formation
- positive regulation of vasoconstriction
- outflow tract morphogenesis
- mitral valve development
- regulation of ventricular cardiomyocyte membrane repolarization
- vasodilation
- endothelium development
- potassium ion transport
- heart development
- negative regulation of glomerular filtration
- angiogenesis
- cell communication by electrical coupling involved in cardiac conduction
- SA node cardiomyocyte to atrial cardiomyocyte communication by electrical coupling
- positive regulation of cell communication by chemical coupling
- atrial cardiomyocyte to AV node cell communication by electrical coupling
- transmembrane transport
- regulation of atrial cardiomyocyte membrane depolarization
- ventricular septum development
- cardiac conduction system development
- regulation of ventricular cardiomyocyte membrane depolarization
- atrial septum development
- cell-cell signaling
- negative regulation of blood pressure
- artery morphogenesis
- regulation of cell communication by electrical coupling
- gap junction assembly
- cell communication by chemical coupling
- AV node cell to bundle of His cell communication by electrical coupling
- bundle of His cardiac muscle cell to Purkinje myocyte communication by electrical coupling
- regulation of cardiac muscle contraction
Cellular Component
Where in the cell the gene product is active
- gap junction
- connexon complex
- intercalated disc
- cell projection
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- gap junction channel activity involved in Purkinje myocyte-ventricular cardiac muscle cell electrical coupling
- gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
- gap junction channel activity involved in bundle of His cell-Purkinje myocyte electrical coupling
- protein binding
- gap junction hemi-channel activity
- connexin binding
- gap junction channel activity involved in SA node cell-atrial cardiomyocyte electrical coupling
- gap junction channel activity involved in cardiac conduction electrical coupling
- gap junction channel activity involved in atrial cardiomyocyte-AV node cell electrical coupling