BCDIN3D
BCDIN3 Domain Containing RNA Methyltransferase
Gene Information Card
| Symbol | BCDIN3D |
|---|---|
| Full Name | BCDIN3 Domain Containing RNA Methyltransferase |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 144233 ncbi.nlm.nih.gov/gene/144233 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q7Z5J4 |
| OMIM ID | 611578 |
| HGNC ID | 28235 |
| Aliases | hMEPCE, MEPCE, BCDIN3 |
Description
BCDIN3D (BCDIN3 Domain Containing RNA Methyltransferase) encodes a methyltransferase that methylates the 5' monophosphate of certain small RNAs, including U6 snRNA and microRNAs. The enzyme is involved in RNA processing and stability, and its dysregulation has been implicated in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of BCDIN3D leads to altered miRNA methylation and oncogenic signaling | PMID: 25944712 |
| Colorectal Cancer | Upregulation associated with poor prognosis and tumor progression | PMID: 31073040 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Breast | 6.1 | Low |
| Colon | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 | 15.2 | Breast cancer cell line |
| HCT116 | 11.8 | Colorectal cancer cell line |
| HEK293 | 9.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.100C>T | missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare missense variants may reduce methyltransferase activity.
Gain of Function (GOF)
Overexpression in cancer suggests potential gain-of-function role.
Dominant Negative (DN)
No evidence currently.
View complete mutation data：
Gene Ontology (GO)
| • RNA methyltransferase activity | • methylation |
| • RNA processing | • nucleus |
Pathways
• RNA methylation
• miRNA processing
Protein Summary
BCDIN3D is a 273-amino acid protein containing a BCDIN3 domain. It functions as a methyltransferase that specifically methylates the 5' monophosphate of U6 snRNA and certain microRNAs, influencing their stability and function. The protein is localized to the nucleus and is expressed in multiple tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BCDIN3D Knockout HEK293 Cell Line | EDJ-KQ10408 | Human | 144233 | Details Get a Quote |
| BCDIN3D Knockout A-549 Cell Line | EDJ-KQ37762 | Human | 144233 | Details Get a Quote |
| BCDIN3D Knockout HCT 116 Cell Line | EDJ-KQ37763 | Human | 144233 | Details Get a Quote |
| BCDIN3D Knockout HeLa Cell Line | EDJ-KQ37764 | Human | 144233 | Details Get a Quote |
