Gene
dok7b
- ID
- ZDB-GENE-090312-103
- Name
- docking protein 7b
- Symbol
- dok7b Nomenclature History
- Previous Names
-
- dok7
- si:ch211-164d19.2
- si:dkey-180b4.3
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to have protein kinase binding activity. Involved in several processes, including skeletal muscle fiber development; synapse assembly; and thigmotaxis. Human ortholog(s) of this gene implicated in congenital myasthenic syndrome 10 and fetal akinesia deformation sequence syndrome 3. Is expressed in post-vent region and tail bud. Orthologous to human DOK7 (docking protein 7).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Müller et al., 2010
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Müller et al., 2010
- 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 | Length | Dok-7, PTB domain | IRS-type PTB domain | PH-like domain superfamily | Pleckstrin homology domain | Protein Dok-7 |
---|---|---|---|---|---|---|
UniProtKB:A0A8M9PM40
|
662 | |||||
UniProtKB:A0A8N7T6Y5
|
663 | |||||
UniProtKB:A0A8M9PXJ2
|
420 | |||||
UniProtKB:A0A8M9PRE0
|
421 |
Interactions and Pathways
No data available
Plasmids
No data available