Dync2h1 Gene Summary [Mouse]
Predicted to enable dynein intermediate chain binding activity; dynein light intermediate chain binding activity; and minus-end-directed microtubule motor activity. Acts upstream of or within several processes, including central nervous system development; cilium organization; and regionalization. Located in apical part of cell; axoneme; and motile cilium. Is expressed in several structures, including brain ventricular layer; cerebral cortex; lung; olfactory epithelium; and secondary heart field. Used to study VACTERL association and asphyxiating thoracic dystrophy 3. 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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Dync2h1 |
| Official Name | dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736] |
| Ensembl ID | ENSMUSG00000047193 |
| Bio databases IDs | |
| Aliases | dynein cytoplasmic 2 heavy chain 1 |
| Synonyms | 4432416O06RIK, ATD3, b2b414Clo, D030010H02RIK, D330044F14RIK, DHC11, DHC1b, DHC2, DNCH2, Dnchc2, DYH1B, dynein cytoplasmic 2 heavy chain 1, hdhc11, LOC103689995, m152Asp, m407Asp, mDHC11, SRPS2B, SRTD3 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Dync2h1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Dynein heavy chain C-terminal domain
- Ezrin/radixin/moesin, alpha-helical domain
- ATP-binding dynein motor region
- Uso1 / p115 like vesicle tethering protein, C terminal region
- Microtubule-binding stalk of dynein motor
- enzyme
- protein binding
- Dynein heavy chain, N-terminal region 1
- P-loop containing dynein motor region
- Dynein heavy chain, N-terminal region 2
- Dynein heavy chain AAA lid domain
- AAA domain (dynein-related subfamily)
- Dynein heavy chain region D6 P-loop domain
- Hydrolytic ATP binding site of dynein motor region
- minus-end-directed kinesin ATPase
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the Dync2h1 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- digenic short rib thoracic dysplasia 3/6 with polydactyly
- Jeune syndrome
- DYNC2H1-related disorder
- esophageal squamous cell carcinoma
- esophageal squamous cell cancer
- short rib-polydactyly syndrome
- hereditary disorder
- short-rib thoracic dysplasia 3 without polydactyly
- metabolic syndrome X
role in cell
- morphology
- differentiation
- accumulation in
- organization
- assembly
- structure
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- motile cilia
- ciliary tip
- cilia
- apical compartment
- Golgi Apparatus
- microtubules
- axonemes
- cytoplasmic vesicles
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Dync2h1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cilium morphogenesis
- cilium movement involved in cell motility
- Golgi organization
- spinal cord motor neuron differentiation
- coronary vasculature development
- determination of left/right symmetry
- dorsal/ventral pattern formation
- embryonic limb morphogenesis
- forebrain development
- kidney development
- positive regulation of smoothened signaling pathway
- protein processing
- intraflagellar retrograde transport
Cellular Component
Where in the cell the gene product is active
- cytoplasmic dynein complex
- extracellular vesicular exosome
- apical part of cell
- cilium
- Golgi apparatus
- plasma membrane
- axoneme
- microtubule
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- protein binding
- dynein light intermediate chain binding
- dynein intermediate chain binding
- minus-end-directed microtubule motor activity
- motor activity