Gene
dtna
- ID
- ZDB-GENE-070117-2
- Name
- dystrobrevin, alpha
- Symbol
- dtna Nomenclature History
- Previous Names
-
- atnb
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable zinc ion binding activity. Predicted to be involved in synaptic signaling. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane and synapse. Is expressed in brain; notochord; and somite. Human ortholog(s) of this gene implicated in cardiomyopathy and left ventricular noncompaction. Orthologous to human DTNA (dystrobrevin alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Böhm et al., 2008
- 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa670 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19346 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa31102 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37939 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa37940 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa44175 | Allele with one point mutation | Unknown | Splice Site | ENU |
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No data available
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| left ventricular noncompaction | Alliance | Left ventricular noncompaction 1, with or without congenital heart defects | 604169 |
| Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | 620971 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Distrobrevin | EF-hand domain pair | EF-hand domain, type 1 | EF-hand domain, type 2 | KCMF1 and Dystrophin | Zinc finger, ZZ-type | Zinc finger, ZZ-type superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M9PXM8 | InterPro | 697 | |||||||
| UniProtKB:A0A8M6Z4Q5 | InterPro | 696 | |||||||
| UniProtKB:A0A8M9P5Z6 | InterPro | 591 | |||||||
| UniProtKB:A0A8M2B9V6 | InterPro | 720 | |||||||
| UniProtKB:A0A8M9PU78 | InterPro | 696 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-176D9 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001080581 (1) | 2354 nt | ||
| Genomic | GenBank:BX005079 (1) | 157845 nt | ||
| Polypeptide | UniProtKB:A0A8M3ANS0 (1) | 728 aa |
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Böhm, S., Jin, H., Hughes, S.M., Roberts, R.G., and Hinits, Y. (2008) Dystrobrevin and dystrophin family gene expression in zebrafish. Gene expression patterns : GEP. 8(2):71-78
- Jin, H., Tan, S., Hermanowski, J., Bohem, S., Pacheco, S., McCaule, J.M., Greener, M.J., Hinits, Y., Hughes, S.M., Sharpe, P.T., Roberts, R.G., (2007) The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms. BMC Genomics. 8(1):19
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