| Entrez Gene ID | 23312 |
|---|---|
| Official Gene Symbol | DMXL2 (GeneCards) |
| Full name | Dmx like 2 |
| Location | 15q21.2 |
| Other ids | Vega : OTTHUMG00000131749 MIM : 612186 HGNC : HGNC:2938 Ensembl : ENSG00000104093 |
| Other names | RC3, PEPNS, DFNA71 |
| Summary | 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] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1254 | 23312 | DMXL2 | 15 | 51791966 | 51791966 | Autism Spectrum Disorders | NextSeq500 v2 |
| 19181 | 23312 | DMXL2 | 15 | 51897475 | 51897475 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 19287 | 23312 | DMXL2 | 15 | 51805447 | 51805447 | Xeroderma Pigmentosum | NextSeq500 v2 HiSeq X Ten |
| 29888 | 23312 | DMXL2 | 15 | 51791966 | 51791966 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten NextSeq500 |