ZFIN is now using GRCz12tu for Genomic Data
Gene
gja5a
- ID
- ZDB-GENE-040407-3
- Name
- gap junction protein, alpha 5a
- Symbol
- gja5a Nomenclature History
- Previous Names
-
- cx45.6
- zgc:195347
- zgc:195362
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables gap junction channel activity. Predicted to be involved in atrial cardiac muscle cell to AV node cell communication by electrical coupling; cell-cell signaling; and heart development. Predicted to act upstream of or within cell communication. Predicted to be located in gap junction. Predicted to be part of connexin complex. Is expressed in several structures, including cardiovascular system; digestive system; nervous system; pleuroperitoneal region; and skeletal muscle. Human ortholog(s) of this gene implicated in atrial fibrillation; atrial standstill 1; familial atrial fibrillation; and tetralogy of Fallot. Orthologous to human GJA5 (gap junction protein alpha 5).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| atrial standstill 1 | Alliance | Atrial standstill, digenic (GJA5/SCN5A) | 108770 |
| familial atrial fibrillation | Alliance | Atrial fibrillation, familial, 11 | 614049 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017990 | Connexin, conserved site |
| Domain | IPR013092 | Connexin, N-terminal |
| Domain | IPR019570 | Gap junction protein, cysteine-rich domain |
| Domain | IPR031862 | Gap junction alpha-5 protein (Cx40), C-terminal |
| Family | IPR000500 | Connexin |
| Homologous_superfamily | IPR034634 | Connexin, C-terminal |
| Homologous_superfamily | IPR038359 | Connexin, N-terminal domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Connexin | Connexin, conserved site | Connexin, C-terminal | Connexin, N-terminal | Connexin, N-terminal domain superfamily | Gap junction alpha-5 protein (Cx40), C-terminal | Gap junction protein, cysteine-rich domain |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:F1QL21 | InterPro | 400 | |||||||
| UniProtKB:Q8AX88 | InterPro | 400 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers