C57BL/6JCya-Thumpd2em1/Cya
Common Name
Thumpd2-KO
Product ID
S-KO-17604
Backgroud
C57BL/6JCya
Strain ID
KOCMP-72167-Thumpd2-B6J-VB
Status
When using this mouse strain in a publication, please cite “Thumpd2-KO Mouse (Catalog S-KO-17604) were purchased from Cyagen.”
Product Type
Age
Genotype
Sex
Quantity
The standard delivery applies for a guaranteed minimum of three heterozygous carriers. Breeding services for homozygous carriers and/or specified sex are available.
Basic Information
Strain Name
Thumpd2-KO
Strain ID
KOCMP-72167-Thumpd2-B6J-VB
Gene Name
Product ID
S-KO-17604
Gene Alias
2810025A12Rik
Background
C57BL/6JCya
Gene Full Name
THUMP domain containing 2
Modification
Conventional knockout
NCBI ID
Phenotype
Chromosome
Chr 17 (Mouse)
Application
--
Datasheet
Strain Description
Ensembl Transcript ID
ENSMUST00000025093
NCBI Transcript ID
NM_028138.1
Target Region
Exon 2
Size of Effective Region
~136 bp
Overview of Gene Research
THUMPD2, a member of the RNA-binding protein (RBP) family, is an N2-methylguanosine (m2G) methyltransferase. It is crucial for the N2-methylation of U6 snRNA at G72 in the spliceosome catalytic center, which promotes efficient pre-mRNA splicing activity. This process is conserved among vertebrates. THUMPD2 is also associated with the regulation of various biological processes and is involved in multiple pathways related to cell cycle, extracellular matrix, etc. Genetic models are valuable for studying its functions [1,2,3,4].
In human cells, knockout of THUMPD2 eliminates U6 m2G72, impairs pre-mRNA splicing activity, and leads to thousands of altered alternative splicing events of endogenous pre-mRNAs. These aberrant splicing events trigger the nonsense-mediated mRNA decay pathway. In epithelial ovarian cancer, shRNA-mediated knockdown of THUMPD2 in cell lines increases cell proliferation but inhibits metastasis, while overexpression has the opposite effect. In esophageal squamous cell carcinoma cells, down-regulation of THUMPD2 is suggested to play a role in multidrug resistance [1,2,5].
In conclusion, THUMPD2 is essential for pre-mRNA splicing through its methylation of U6 snRNA. Its study using gene knockout models has revealed its significance in diseases such as age-related macular degeneration, retinal function impairment, epithelial ovarian cancer, and esophageal squamous cell carcinoma, providing insights into disease mechanisms and potential therapeutic targets.
References：
1. Yang, Wen-Qing, Ge, Jian-Yang, Zhang, Xiaofeng, Xu, Beisi, Liu, Ru-Juan. . THUMPD2 catalyzes the N2-methylation of U6 snRNA of the spliceosome catalytic center and regulates pre-mRNA splicing and retinal degeneration. In Nucleic acids research, 52, 3291-3309. doi:10.1093/nar/gkad1243. https://pubmed.ncbi.nlm.nih.gov/38165050/
2. Hua, Minhui, Chen, Yujie, Jia, Meiqun, Xu, Yunzhao, Zhang, Yuquan. 2024. RNA-binding protein THUMPD2 inhibits proliferation and promotes metastasis in epithelial ovarian cancer. In Heliyon, 10, e33201. doi:10.1016/j.heliyon.2024.e33201. https://pubmed.ncbi.nlm.nih.gov/39071668/
3. Wang, Can, Ulryck, Nathalie, Herzel, Lydia, Bohnsack, Katherine E, Graille, Marc. . N 2-methylguanosine modifications on human tRNAs and snRNA U6 are important for cell proliferation, protein translation and pre-mRNA splicing. In Nucleic acids research, 51, 7496-7519. doi:10.1093/nar/gkad487. https://pubmed.ncbi.nlm.nih.gov/37283053/
4. Brūmele, Baiba, Mutso, Margit, Telanne, Lilian, Abroi, Aare, Kurg, Reet. 2021. Human TRMT112-Methyltransferase Network Consists of Seven Partners Interacting with a Common Co-Factor. In International journal of molecular sciences, 22, . doi:10.3390/ijms222413593. https://pubmed.ncbi.nlm.nih.gov/34948388/
5. Hayashi, Masato, Kawakubo, Hirofumi, Fukuda, Kazumasa, Wada, Norihito, Kitagawa, Yuko. 2019. THUMP domain containing 2 protein possibly induces resistance to cisplatin and 5-fluorouracil in in vitro human esophageal squamous cell carcinoma cells as revealed by transposon activation mutagenesis. In The journal of gene medicine, 21, e3135. doi:10.1002/jgm.3135. https://pubmed.ncbi.nlm.nih.gov/31656051/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen
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