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 regulation of synaptic vesicle lumen acidification. Acts upstream of or within neural crest cell migration; positive regulation of canonical Wnt signaling pathway; and regulation of endocytosis. 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
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa23358 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa23359 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| t21010 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| t21192 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| t26173 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| MO1-dmxl2 | N/A | Tuttle et al., 2014 |
| MO2-dmxl2 | N/A | Tuttle et al., 2014 |
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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 |
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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 |
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Domain Details Per Protein
| Protein | Additional Resources | 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 | InterPro | 3050 |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-165A16 | ||
| Encodes | EST | cb952 | Thisse et al., 2001 |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001302235 (1) | 9153 nt | ||
| Genomic | GenBank:BX908722 | 166917 nt | ||
| Polypeptide | UniProtKB:U5U756 (1) | 3050 aa |
- Bayés, À., Collins, M.O., Reig-Viader, R., Gou, G., Goulding, D., Izquierdo, A., Choudhary, J.S., Emes, R.D., Grant, S.G. (2017) Evolution of complexity in the zebrafish synapse proteome. Nature communications. 8:14613
- Sullivan, C., Lage, C.R., Yoder, J.A., Postlethwait, J.H., Kim, C.H. (2017) Evolutionary divergence of the vertebrate TNFAIP8 gene family: Applying the spotted gar orthology bridge to understand ohnolog loss in teleosts. PLoS One. 12:e0179517
- Houbrechts, A.M., Delarue, J., Gabriëls, I.J., Sourbron, J., Darras, V.M. (2016) Permanent Deiodinase Type 2 Deficiency Strongly Perturbs Zebrafish Development, Growth, and Fertility. Endocrinology. 157:3668-81
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Tuttle, A.M., Hoffman, T.L., Schilling, T.F. (2014) Rabconnectin-3a regulates vesicle endocytosis and canonical Wnt signaling in zebrafish neural crest migration. PLoS Biology. 12:e1001852
- Einhorn, Z., Trapani, J.G., Liu, Q., and Nicolson, T. (2012) Rabconnectin3alpha promotes stable activity of the H+ pump on synaptic vesicles in hair cells. The Journal of neuroscience : the official journal of the Society for Neuroscience. 32(32):11144-11156
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