DMXL2

Dmx-like 2 is a protein that in humans is encoded by the DMXL2 gene. ^[5]

DMXL2
Identifiers
Aliases	DMXL2, RC3, PEPNS, Dmx like 2, DFNA71, EIEE81
External IDs	OMIM: 612186; MGI: 2444630; HomoloGene: 41022; GeneCards: DMXL2; OMA:DMXL2 - orthologs
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q21.2 Start 51,447,711 bp[1] End 51,622,833 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A5.3 Start 54,272,442 bp[2] End 54,408,910 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte postcentral gyrus Brodmann area 9 corpus epididymis pars compacta right uterine tube cerebellar cortex lateral nuclear group of thalamus cerebellar hemisphere Top expressed in superior cervical ganglion lobe of cerebellum anterior amygdaloid area subiculum iris cerebellar vermis primary motor cortex Epithelium of choroid plexus piriform cortex pontine nuclei More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 23312 235380 Ensembl ENSG00000104093 ENSMUSG00000041268 UniProt Q8TDJ6 Q8BPN8 RefSeq (mRNA) NM_001174116 NM_001174117 NM_015263 NM_172771 RefSeq (protein) NP_001167587 NP_001167588 NP_056078 NP_001365386 NP_001365387 NP_001365388 NP_001365389 NP_001365390 NP_001365391 NP_001365392 NP_001365393 NP_766359 Location (UCSC) Chr 15: 51.45 – 51.62 Mb Chr 9: 54.27 – 54.41 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

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 celines.^[6] A gene encoding a similar protein is located on chromosome 5. Multiple transcript variants encoding different isoforms have been found for this gene.

Clinical relevance

Haplosufficiency of Dmxl2 has been identified as the cause of Polyendocrine-polyneuropathy syndrome, and delayed puberty. Research has indicated that this is a result of altered function of CNS synapses (in which the protein product of Dmxl2 is expressed) causing altered activation of the GnRH neurons of the hypothalamus.

See also

• DmX gene - the homolog in D. melanogaster