Aliases for DMXL2 Gene
External Ids for DMXL2 Gene
Previous GeneCards Identifiers for DMXL2 Gene
This gene encodes a protein with 12 WD domains. Proteins with WD domains are involved in many functions including participation in signal transduction pathways. Participation of the encoded protein in regulation of the Notch signaling pathway has been demonstrated in vitro using several human cell lines (PMID:20810660). A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
GeneCards Summary for DMXL2 Gene
DMXL2 (Dmx Like 2) is a Protein Coding gene. Diseases associated with DMXL2 include Polyendocrine-Polyneuropathy Syndrome and Deafness, Autosomal Dominant 71. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is DMXL1.
UniProtKB/Swiss-Prot Summary for DMXL2 Gene
May serve as a scaffold protein for MADD and RAB3GA on synaptic vesicles (PubMed:11809763). Plays a role in the brain as a key controller of neuronal and endocrine homeostatic processes (By similarity).