Gene
dmxl2
- ID
- ZDB-GENE-031007-6
- Name
- Dmx-like 2
- Symbol
- dmxl2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Involved in neural crest cell migration; positive regulation of canonical Wnt signaling pathway; and regulation of vesicle-mediated transport. Predicted to localize to RAVE complex. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 71 and early infantile epileptic encephalopathy. Is expressed in several structures, including nervous system; neural crest; neural tube; shield; and solid lens vesicle. Orthologous to human DMXL2 (Dmx like 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb952 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 2 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 71 | Alliance | ?Deafness, autosomal dominant 71 | 617605 |
| developmental and epileptic encephalopathy 81 | Alliance | Developmental and epileptic encephalopathy 81 | 618663 |
| ?Polyendocrine-polyneuropathy syndrome | 616113 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR022033 | RAVE complex protein Rav1 C-terminal |
| Family | IPR052208 | DmX-like/RAVE complex component |
| Homologous_superfamily | IPR011044 | Quinoprotein amine dehydrogenase, beta chain-like |
| Homologous_superfamily | IPR015943 | WD40/YVTN repeat-like-containing domain superfamily |
| Homologous_superfamily | IPR036322 | WD40-repeat-containing domain superfamily |
| Repeat | IPR001680 | WD40 repeat |
Domain Details Per Protein
| Protein | Length | DmX-like/RAVE complex component | Quinoprotein amine dehydrogenase, beta chain-like | RAVE complex protein Rav1 C-terminal | WD40 repeat | WD40-repeat-containing domain superfamily | WD40/YVTN repeat-like-containing domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:U5U756
|
3050 |
Interactions and Pathways
No data available
Plasmids
No data available