DROSHA Gene: MicroRNA Processing and Disease
A comprehensive guide to DROSHA, its function, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | DROSHA |
|---|---|
| Full Name | Drosha ribonuclease III |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.3 |
| NCBI Gene ID | 29102 ncbi.nlm.nih.gov/gene/29102 |
| Ensembl ID | ENSG00000113360 |
| UniProt ID | Q9NRR4 |
| OMIM ID | 608828 |
| HGNC ID | 17929 |
| Aliases | RNASEN, RNASE3L, ETOHI2 |
Description
DROSHA encodes a ribonuclease III enzyme that is essential for the initial step of microRNA (miRNA) biogenesis. It cleaves primary miRNA transcripts (pri-miRNA) into precursor miRNAs (pre-miRNA) in the nucleus. This enzyme is critical for regulating gene expression and plays a role in development, differentiation, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Wilms tumor | Somatic mutations in DROSHA lead to reduced miRNA processing, contributing to tumorigenesis. | COSMIC, ClinVar |
| Melanoma | DROSHA mutations may alter miRNA profiles, promoting metastasis. | COSMIC |
| Hepatocellular carcinoma | Overexpression of DROSHA is associated with poor prognosis and altered miRNA expression. | NCBI, COSMIC |
| Breast cancer | DROSHA expression is dysregulated, affecting miRNA processing and tumor progression. | COSMIC |
| Colorectal cancer | Mutations and altered expression of DROSHA are linked to tumor aggressiveness. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adrenal gland | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Kidney | 7.8 | Medium |
| Liver | 6.9 | Low |
| Lung | 7.1 | Low |
| Ovary | 9.3 | Medium |
| Testis | 12.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 11.5 | Cervical cancer cell line |
| MCF7 | 9.8 | Breast cancer cell line |
| A549 | 8.2 | Lung cancer cell line |
| HepG2 | 7.5 | Liver cancer cell line |
| K562 | 10.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.E1147K | Missense | 0.5% | Reduced catalytic activity |
| p.D1151N | Missense | 0.3% | Loss of function |
| p.R279L | Missense | 0.2% | Altered substrate specificity |
| p.L883F | Missense | 0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Mutations such as p.D1151N impair the RNase III activity, reducing miRNA processing.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression is more common in cancer.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by dimerizing with wild-type DROSHA, reducing overall activity.
View complete mutation data：
Gene Ontology (GO)
| • ribonuclease III activity | • mRNA binding |
| • protein homodimerization activity | • nucleus |
| • cytoplasm | • miRNA processing |
| • gene silencing |
Pathways
• MicroRNA biogenesis
• Gene expression regulation
Protein Summary
DROSHA is a 1374-amino acid protein that forms a complex with DGCR8 to process pri-miRNA. It contains two RNase III domains and a double-stranded RNA-binding domain. The protein is localized mainly in the nucleus and is essential for miRNA maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DROSHA（c.2625_2624insTAATAA） Point Mutation in HeLa Cell Line | EDC03069 | Human | 29102 | Details Get a Quote |
| DROSHA Knockout HAP1 Cell Line | EDJ-KQ78117 | Human | 29102 | Details Get a Quote |
| DROSHA Knockout HEK293T Cell Line | EDJ-KQ78159 | Human | 29102 | Details Get a Quote |
| DROSHA Knockout HCT 116 Cell Line | EDJ-KQ78160 | Human | 29102 | Details Get a Quote |
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