DMXL2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
DMXL2
Official Name
Dmx like 2 [Source:HGNC Symbol;Acc:HGNC:2938]
Ensembl ID
ENSG00000104093
Bio databases IDs NCBI: 23312 Ensembl: ENSG00000104093
Aliases Dmx like 2, rabconnectin 3
Synonyms 6330586A12, 6430411K14RIK, DEE81, DFNA71, Dmxl2-ps1, Dmx-like 2, E130119P06RIK, EIEE81, mKIAA0856, PEPNS, Rabconnectin-3, RC3
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DMXL2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • WD40 repeats
  • RAVE protein 1 C terminal
  • WD domain, G-beta repeat
  • enzyme binding
  • WD40

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • autosomal dominant deafness type 71
  • non-insulin-dependent diabetes mellitus
  • early infantile epileptic encephalopathy type 81
  • hearing loss
  • glioblastoma
  • glioblastoma cancer
  • sporadic age-related sensorineural hearing loss
  • pervasive developmental disorder
  • polyendocrine-polyneuropathy syndrome
  • familial nonsyndromic hearing impairment
regulated by
  • TLR7
  • Immunoglobulin
  • cisplatin
  • SNCA
  • INPP5D
  • hydroxypropyl-beta-cyclodextrin
  • 3alpha-aminocholestane
  • PBMCs
  • AHR
  • IL13
regulates
  • D-glucose

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cellular membrane
  • synaptic vesicles
  • secretory granules

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DMXL2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • vacuolar acidification

Cellular Component

Where in the cell the gene product is active
  • RAVE complex
  • extracellular space
  • synaptic vesicle
  • synaptic vesicle membrane

Molecular Function

What the gene product does at the molecular level
  • small GTPase binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.