ZFIN is now using GRCz12tu for Genomic Data
Gene
gja5b
- ID
- ZDB-GENE-050616-11
- Name
- gap junction protein, alpha 5b
- Symbol
- gja5b Nomenclature History
- Previous Names
-
- cx41.8
- leo
- leopard
- tup (1)
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables gap junction hemi-channel activity. Acts upstream of or within several processes, including cell redox homeostasis; cellular response to redox state; and hematopoietic stem cell homeostasis. Predicted to be located in gap junction and plasma membrane. Predicted to be part of connexin complex. Is expressed in brain; eye; fin; heart; and integument. 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
- 5 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 29 figures from 15 publications
- 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 |
| Family | IPR002264 | Gap junction alpha-5 protein (Cx40) |
| 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) | Gap junction alpha-5 protein (Cx40), C-terminal | Gap junction protein, cysteine-rich domain |
|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q3S2N4 | InterPro | 370 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers