Dmxl2 Gene Summary [Mouse]
Predicted to enable small GTPase binding activity. Acts upstream of or within several processes, including corpus callosum development; glucose homeostasis; and spermatogenesis. Is active in neuronal dense core vesicle. Is expressed in central nervous system; ganglia; and olfactory epithelium. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 71 and developmental and epileptic encephalopathy 81. Orthologous to human DMXL2 (Dmx like 2). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Dmxl2 |
| Official Name | Dmx-like 2 [Source:MGI Symbol;Acc:MGI:2444630] |
| Ensembl ID | ENSMUSG00000041268 |
| Bio databases IDs | |
| Aliases | Dmx-like 2 |
| Synonyms | 6330586A12, 6430411K14RIK, DEE81, DFNA71, Dmxl2-ps1, Dmx-like 2, E130119P06RIK, EIEE81, mKIAA0856, PEPNS, Rabconnectin-3, RC3 |
| 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 Dmxl2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- WD40 repeats
- RAVE protein 1 C terminal
- WD domain, G-beta repeat
- enzyme binding
- WD40
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant deafness type 71
- non-insulin-dependent diabetes mellitus
- early infantile epileptic encephalopathy type 81
- hearing loss
- glioblastoma
- glioblastoma cancer
- sporadic age-related sensorineural hearing loss
- pervasive developmental disorder
- polyendocrine-polyneuropathy syndrome
- familial nonsyndromic hearing impairment
regulates
- D-glucose
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
- cellular membrane
- synaptic vesicles
- secretory granules
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Dmxl2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- vacuolar acidification
Cellular Component
Where in the cell the gene product is active
- RAVE complex
- extracellular space
- synaptic vesicle
- synaptic vesicle membrane
Molecular Function
What the gene product does at the molecular level
- small GTPase binding