THUMPD3 Gene
THUMP Domain Containing 3
Gene Information Card
| Symbol | THUMPD3 |
|---|---|
| Full Name | THUMP domain containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 25917 ncbi.nlm.nih.gov/gene/25917 |
| Ensembl ID | ENSG00000163631 |
| UniProt ID | Q9BV44 |
| OMIM ID | 617739 |
| HGNC ID | 26007 |
| Aliases | FLJ20291, MGC13170 |
Description
THUMPD3 (THUMP domain containing 3) is a protein-coding gene located on chromosome 3p21.31. The encoded protein contains a THUMP domain and is predicted to be involved in RNA modification, specifically as a putative methyltransferase. It is broadly expressed in various tissues and may play a role in cellular RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression; potential role in tumorigenesis | COSMIC; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg97Trp | Missense | <0.01% | Unknown |
| p.Gly156Ser | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • RNA methyltransferase activity | • THUMP domain binding |
| • RNA processing |
Pathways
• RNA modification
Protein Summary
THUMPD3 encodes a 366-amino acid protein containing a THUMP domain, which is characteristic of RNA methyltransferases. The protein is predicted to localize to the nucleus and cytoplasm and may participate in post-transcriptional RNA modification. Its exact substrate and biological function remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THUMPD3 Knockout HEK293 Cell Line | EDJ-KQ2976 | Human | 25917 | Details Get a Quote |
| THUMPD3 Knockout A-549 Cell Line | EDJ-KQ24146 | Human | 25917 | Details Get a Quote |
| THUMPD3 Knockout HCT 116 Cell Line | EDJ-KQ24147 | Human | 25917 | Details Get a Quote |
| THUMPD3 Knockout HeLa Cell Line | EDJ-KQ22774 | Human | 25917 | Details Get a Quote |
