Identity
HGNC
LOCATION
15q21.2
LOCUSID
ALIAS
DEE81,DFNA71,EIEE81,PEPNS,RC3
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23312
MIM: 612186
HGNC: 2938
Ensembl: ENSG00000104093
Variants:
dbSNP: 23312
ClinVar: 23312
TCGA: ENSG00000104093
COSMIC: DMXL2
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33715530 | 2021 | A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. | 6 |
| 33715530 | 2021 | A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian family. | 6 |
| 30732576 | 2019 | Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. | 3 |
| 31688942 | 2019 | Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. | 18 |
| 30732576 | 2019 | Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders. | 3 |
| 31688942 | 2019 | Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course. | 18 |
| 27657680 | 2017 | A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. | 21 |
| 27657680 | 2017 | A dominant variant in DMXL2 is linked to nonsyndromic hearing loss. | 21 |
| 26093085 | 2015 | DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation. | 17 |
| 26093085 | 2015 | DMXL2 drives epithelial to mesenchymal transition in hormonal therapy resistant breast cancer through Notch hyper-activation. | 17 |
| 25248098 | 2014 | Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. | 34 |
| 25248098 | 2014 | Haploinsufficiency of Dmxl2, encoding a synaptic protein, causes infertility associated with a loss of GnRH neurons in mouse. | 34 |
| 20810660 | 2010 | Rabconnectin-3 is a functional regulator of mammalian Notch signaling. | 42 |
| 20810660 | 2010 | Rabconnectin-3 is a functional regulator of mammalian Notch signaling. | 42 |
| 19023099 | 2009 | Gene variants associated with ischemic stroke: the cardiovascular health study. | 20 |
Citation
Dessen P
DMXL2 (Dmx like 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54258/dmxl2-(dmx-like-2)
