Gene

dmxl2

ID
ZDB-GENE-031007-6
Name
Dmx-like 2
Symbol
dmxl2 Nomenclature History
Previous Names
  • cb952 (1)
  • rabconnectin3alpha
  • rbc3a
  • rbc3alpha
  • rc3
  • si:ch211-165a16.2
  • si:ch211-165a16.3 (1)
  • stardust (1)
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
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
12 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dmxl2 Human Ortholog
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
Associated With dmxl2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR017986 WD40-repeat-containing domain
Domain IPR022033 RAVE complex protein Rav1 C-terminal
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 Quinoprotein amine dehydrogenase, beta chain-like RAVE complex protein Rav1 C-terminal WD40 repeat WD40-repeat-containing domain WD40-repeat-containing domain superfamily WD40/YVTN repeat-like-containing domain superfamily
UniProtKB:U5U756 3050
UniProtKB:A0A0R4IWM7 3049
UniProtKB:F8W3S6 92
UniProtKB:F8W4U2 640
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations