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
- Acts upstream of or within several processes, including neural crest cell migration; positive regulation of canonical Wnt signaling pathway; and regulation of synaptic vesicle lumen acidification. Predicted to be part of RAVE complex. Is expressed in several structures, including nervous system; neural crest; neural tube; shield; and solid lens vesicle. 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).
- 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