Gene
dync2h1
- ID
- ZDB-GENE-100217-1
- Name
- dynein cytoplasmic 2 heavy chain 1
- Symbol
- dync2h1 Nomenclature History
- Previous Names
-
- wu:fj04e09
- zmp:0000000965
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Acts upstream of or within cilium assembly and intraciliary transport. Located in non-motile cilium. Is expressed in central nervous system; pronephric duct; and retina. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy and asphyxiating thoracic dystrophy 3. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Krock et al., 2009
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| asphyxiating thoracic dystrophy 3 | Alliance | Short-rib thoracic dysplasia 3 with or without polydactyly | 613091 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Length |
|---|---|
|
UniProtKB:A0A8M9PCL1
|
4299 |
- Genome Browsers
- No data available
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance