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
- Involved in cilium assembly and intraciliary transport. Localizes to non-motile cilium. Human ortholog(s) of this gene implicated in asphyxiating thoracic dystrophy 3. Is expressed in central nervous system; pronephric duct; and retina. Orthologous to human DYNC2H1 (dynein cytoplasmic 2 heavy chain 1).
- Genome Resources
-
- Alliance (1)
- Gene:100332402 (1)
- 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
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003593 | AAA+ ATPase domain |
| Domain | IPR004273 | Dynein heavy chain region D6 P-loop domain |
| Domain | IPR013594 | Dynein heavy chain, tail |
| Domain | IPR013602 | Dynein heavy chain, linker |
| Domain | IPR024317 | Dynein heavy chain, AAA module D4 |
| Domain | IPR024743 | Dynein heavy chain, coiled coil stalk |
| Domain | IPR035699 | Dynein heavy chain, hydrolytic ATP-binding dynein motor region |
| Domain | IPR035706 | Dynein heavy chain, ATP-binding dynein motor region |
| Domain | IPR041228 | Dynein heavy chain, C-terminal domain |
| Domain | IPR041658 | Dynein heavy chain AAA lid domain |
| Domain | IPR049400 | Cytoplasmic dynein 2 heavy chain 1, AAA+ ATPase domain |
| Domain | IPR054354 | Dynein 2 heavy chain 1, cytoplasmic, ATPase lid domain |
| Family | IPR026983 | Dynein heavy chain |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR042219 | Dynein heavy chain AAA lid domain superfamily |
| Homologous_superfamily | IPR042222 | Dynein heavy chain, domain 2, N-terminal |
| Homologous_superfamily | IPR042228 | Dynein heavy chain, linker, subdomain 3 |
| Homologous_superfamily | IPR043157 | Dynein heavy chain, AAA1 domain, small subdomain |
| Homologous_superfamily | IPR043160 | Dynein heavy chain, C-terminal domain, barrel region |
Domain Details Per Protein
| Protein | Length | AAA+ ATPase domain | Cytoplasmic dynein 2 heavy chain 1, AAA+ ATPase domain | Dynein 2 heavy chain 1, cytoplasmic, ATPase lid domain | Dynein heavy chain | Dynein heavy chain, AAA1 domain, small subdomain | Dynein heavy chain AAA lid domain | Dynein heavy chain AAA lid domain superfamily | Dynein heavy chain, AAA module D4 | Dynein heavy chain, ATP-binding dynein motor region | Dynein heavy chain, coiled coil stalk | Dynein heavy chain, C-terminal domain | Dynein heavy chain, C-terminal domain, barrel region | Dynein heavy chain, domain 2, N-terminal | Dynein heavy chain, hydrolytic ATP-binding dynein motor region | Dynein heavy chain, linker | Dynein heavy chain, linker, subdomain 3 | Dynein heavy chain region D6 P-loop domain | Dynein heavy chain, tail | P-loop containing nucleoside triphosphate hydrolase |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PCL1
|
4299 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance