THUMPD2 Gene - THUMP Domain 2 tRNA and snRNA Guanosine Methyltransferase
Genomic information, expression, and disease relevance for THUMPD2
Gene Information Card
| Symbol | THUMPD2 |
|---|---|
| Full Name | THUMP domain 2 tRNA and snRNA guanosine methyltransferase |
| Gene Type | gene with protein product |
| Chromosomal Location | 2p22.1 |
| NCBI Gene ID | 80745 ncbi.nlm.nih.gov/gene/80745 |
| Ensembl ID | ENSG00000138050 |
| UniProt ID | Q9BTF0 |
| OMIM ID | 611751 |
| HGNC ID | HGNC:14890 |
| Aliases | MGC2454, C2orf8 |
Description
THUMPD2 (THUMP domain 2 tRNA and snRNA guanosine methyltransferase) is a protein-coding gene located on chromosome 2p22.1. It encodes a methyltransferase that catalyzes the methylation of guanosine residues in tRNA and small nuclear RNA (snRNA), specifically the N2-methylguanosine (m2G) modification. This modification is important for RNA stability and function. THUMPD2 is expressed in various tissues and is involved in RNA processing and gene expression regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression may affect tRNA modification and translation, potentially contributing to tumorigenesis. | COSMIC data shows somatic mutations in various cancers. |
| Neurodevelopmental disorders | Potential role in RNA modification affecting neuronal function; further studies needed. | ClinVar has variants of uncertain significance. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Testis | 8.5 | Low |
| Liver | 6.2 | Low |
| Kidney | 5.1 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | High expression |
| HEK293 | 10.1 | Moderate expression |
| A549 | 7.3 | Low expression |
| MCF7 | 6.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.I41M) | Missense | 0.01% | Potential impact on protein function; clinical significance unknown. |
| c.456C>T (p.R152*) | Nonsense | 0.005% | Likely loss of function; associated with disease in some cases. |
| c.789G>A (p.V263I) | Missense | 0.02% | Benign or likely benign; no known disease association. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations, such as nonsense or frameshift, are expected to reduce or abolish methyltransferase activity, potentially leading to defective tRNA/snRNA modification and downstream effects on translation and splicing.
Gain of Function (GOF)
No evidence of gain-of-function mutations for THUMPD2; most variants are loss-of-function or neutral.
Dominant Negative (DN)
No evidence of dominant-negative effects; THUMPD2 likely functions as a monomer or in a complex, and haploinsufficiency may be relevant.
View complete mutation data：
Gene Ontology (GO)
| • tRNA (guanine-N2-)-methyltransferase activity | • snRNA (guanine-N2-)-methyltransferase activity |
| • RNA binding | • methyltransferase activity |
| • nucleus | • cytoplasm |
Pathways
• tRNA modification
• snRNA modification
• RNA methylation
Protein Summary
The THUMPD2 protein contains a THUMP domain, which is involved in RNA binding, and a methyltransferase domain. It catalyzes the transfer of a methyl group from S-adenosylmethionine to the N2 position of guanosine in tRNA and snRNA, producing m2G. This modification is critical for RNA stability, processing, and function. THUMPD2 is ubiquitously expressed, with higher levels in brain and testis, suggesting roles in neuronal and germ cell function. Its dysregulation may contribute to cancer and neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| THUMPD2 Knockout HEK293 Cell Line | EDJ-KQ9561 | Human | 80745 | Details Get a Quote |
| THUMPD2 Knockout A-549 Cell Line | EDJ-KQ36360 | Human | 80745 | Details Get a Quote |
| THUMPD2 Knockout HCT 116 Cell Line | EDJ-KQ36361 | Human | 80745 | Details Get a Quote |
| THUMPD2 Knockout HeLa Cell Line | EDJ-KQ36362 | Human | 80745 | Details Get a Quote |
