Gene
dok7a
- ID
- ZDB-GENE-161017-84
- Name
- docking protein 7a
- Symbol
- dok7a Nomenclature History
- Previous Names
-
- si:cabz01081777.1
- si:cabz01081777
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable protein kinase binding activity. Predicted to be involved in neuromuscular junction development. Predicted to act upstream of or within positive regulation of protein tyrosine kinase activity. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 10 and fetal akinesia deformation sequence syndrome 3. Orthologous to human DOK7 (docking protein 7).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- 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 |
|---|---|---|---|
| congenital myasthenic syndrome 10 | Alliance | Myasthenic syndrome, congenital, 10 | 254300 |
| fetal akinesia deformation sequence syndrome 3 | Alliance | Fetal akinesia deformation sequence 3 | 618389 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Dok-7, PTB domain | IRS-type PTB domain | PH-like domain superfamily | Protein Dok-7 |
|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B8W6 | InterPro | 831 | ||||
| UniProtKB:A0A8M1RHD5 | InterPro | 832 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
cabz01081777.1-201
(1)
|
Ensembl | 2,708 nt | ||
| mRNA |
cabz01081777.1-202
(1)
|
Ensembl | 1,578 nt |
Interactions and Pathways
No data available
Plasmids
No data available