| Entrez Gene ID | 29102 |
|---|---|
| Official Gene Symbol | DROSHA (GeneCards) |
| Full name | drosha ribonuclease III |
| Location | 5p13.3 |
| Other ids | Vega : OTTHUMG00000161976 MIM : 608828 HGNC : HGNC:17904 Ensembl : ENSG00000113360 |
| Other names | RN3, ETOHI2, RNASEN, RANSE3L, RNASE3L, HSA242976 |
| Summary | This gene encodes a ribonuclease (RNase) III double-stranded RNA-specific ribonuclease and subunit of the microprocessor protein complex, which catalyzes the initial processing step of microRNA (miRNA) synthesis. The encoded protein cleaves the stem loop structure from the primary microRNA (pri-miRNA) in the nucleus, yielding the precursor miRNA (pre-miRNA), which is then exported to the cytoplasm for further processing. In a human cell line lacking a functional copy of this gene, canonical miRNA synthesis is reduced. Somatic mutations in this gene have been observed in human patients with kidney cancer. [provided by RefSeq, Sep 2016] |
Found 6 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1261 | 29102 | DROSHA | 5 | 31406995 | 31406995 | Autism Spectrum Disorders | NextSeq500 v2 |
| 7634 | 29102 | DROSHA | 5 | 31531069 | 31531069 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 8154 | 29102 | DROSHA | 5 | 31461027 | 31461027 | Asymptomatic | NextSeq500 v2 HiSeq X Ten |
| 8813 | 29102 | DROSHA | 5 | 31484039 | 31484039 | Xeroderma Pigmentosum | NextSeq500 v2 HiSeq X Ten |
| 25803 | 29102 | DROSHA | 5 | 31421011 | 31421011 | Asymptomatic | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning |
| 29768 | 29102 | DROSHA | 5 | 31406995 | 31406995 | Autism Spectrum Disorders | NextSeq500 v2 HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |