Ask about this productRelated genes to: TMTC4 antibody
- Gene:
- TMTC4 NIH gene
- Name:
- transmembrane and tetratricopeptide repeat containing 4
- Previous symbol:
- -
- Synonyms:
- FLJ14624, FLJ22153
- Chromosome:
- 13q32.3
- Locus Type:
- gene with protein product
- Date approved:
- 2006-01-06
- Date modifiied:
- 2014-11-18
Related products to: TMTC4 antibody
Related articles to: TMTC4 antibody
- PurposeOsteosarcoma is the most common primary tumor of bone tissue. To date, the expression of transmembrane and tetratricopeptide repeat containing 4 (TMTC4) in osteosarcoma has not been reported. This study aimed to investigate the significance of TMTC4 in the prognosis of osteosarcoma.MethodsWe screened the expression of downstream genes after interleukin 11 receptor subunit alpha knockout in osteosarcoma using the Gene Expression Omnibus database. Data from The Cancer Genome Atlas database and a cloud-based platform were used to further analyze the expression levels and functional impact of TMTC4 in osteosarcoma, along with subgroup analysis. Polymerase chain reaction was used to detect TMTC4 expression in osteoblast and osteosarcoma cells, and a cell counting kit-8 assay was employed to assess cell proliferation.ResultsEleven downregulated genes, including , were identified using the GSE191215 database. Kaplan-Meier survival curve analysis showed that osteosarcoma cells with low TMTC4 expression were associated with a higher survival rate. Enrichment analysis suggested that low TMTC4 expression might be related to immunoregulatory pathways. Methylation analysis revealed that TMTC4 methylation was significantly increased in osteosarcoma cells. In addition, TMTC4 expression was significantly higher in osteosarcoma cells than in osteoblast cells, and inhibition of TMTC4 expression hindered osteosarcoma cell proliferation.ConclusionTMTC4 is an important biomarker in patients with osteosarcoma, and its low expression is associated with improved prognosis. - Source: PubMed
Publication date: 2025/12/16
Li ZihanTian Yihao - To explore the association between apaQTL/eQTL-SNPs and the susceptibility to silicosis. A silicosis-related GWAS was initially conducted to screen for single nucleotide polymorphisms (SNPs) associated with the risk of silicosis. Candidate SNPs with apaQTL and eQTL functions were then obtained from the 3'aQTL-atlas and GTEx databases. Subsequently, additional case-control studies were performed to validate the relationship between the candidate apaQTL/eQTL-SNPs and the risk of silicosis. Finally, experiments were conducted to illustrate APA events occurring at different alleles of the identified apaQTL/eQTL-SNPs. The combined results of the GWAS and iMLDR validations indicate that the variant T allele of the rs2974341 located on SMIM19 (additive model: OR = 0.66, the 95% CI = 0.53-0.84, P = 0.001) and the variant T allele of the rs2390488 located on TMTC4 (additive model: OR = 0.72, 95% CI = 0.57-0.90, P = 0.005) were significantly associated with decreased risk of developing silicosis susceptibility. Furthermore, 3'RACE experiments verified the presence of two poly (A) sites (proximal and distal) in SMIM19, rs2974341 may remotely regulate the binding between miRNA-3646 and SMIM19 with its high LD locus rs2974353 to affect the expression level of SMIM19. The rs2974341 variant T allele may contribute to the generation of the shorter 3'UTR transcript of SMIM19 and affect the binding of miRNA-3646 to the target gene SMIM19. The apaQTL/eQTL-SNPs may provide new perspectives for evaluating the regulatory function of SNPs in the development of silicosis. - Source: PubMed
Publication date: 2024/03/27
Li ZhenyuZhang WendiLi SiqiTao XiaoboXu HuiwenWu YutongChen QiongNing AnhuiTian TianZhang LeiCui JiahuaWang WeiChu Minjie - Transmembrane and tetratricopeptide repeat 4 (Tmtc4) is a deafness gene in mice. Tmtc4-KO mice have rapidly progressive postnatal hearing loss due to overactivation of the unfolded protein response (UPR); however, the cellular basis and human relevance of Tmtc4-associated hearing loss in the cochlea was not heretofore appreciated. We created a hair cell-specific conditional KO mouse that phenocopies the constitutive KO with postnatal onset deafness, demonstrating that Tmtc4 is a hair cell-specific deafness gene. Furthermore, we identified a human family in which Tmtc4 variants segregate with adult-onset progressive hearing loss. Lymphoblastoid cells derived from multiple affected and unaffected family members, as well as human embryonic kidney cells engineered to harbor each of the variants, demonstrated that the human Tmtc4 variants confer hypersensitivity of the UPR toward apoptosis. These findings provide evidence that TMTC4 is a deafness gene in humans and further implicate the UPR in progressive hearing loss. - Source: PubMed
Publication date: 2023/12/22
Li JiangChoi Byung YoonEltawil YasminIsmail Mohamad NouraPark YesaiMatthews Ian RHan Jin HeeKim Bong JikSherr Elliott HChan Dylan K - The histopathologic diagnosis of prostate cancer (PCa) from biopsies is a current challenge if double or triple staining is needed. Therefore, there is an urgent need for development of a new reliable biomarker to diagnose PCa patients. We aimed to explore and compare the expression of TMTC4 in PCa cells and tissue specimens and evaluate its sensitivity and specificity. The expression of TMTC4 in PCa and normal prostate epithelial cells was determined by real-time PCR and Western blot analyses. Immunohistochemical (IHC) staining of TMTC4 was performed on tissues collected from PCa and benign prostatic hyperplasia (BPH). Our results show a high expression of TMTC4 on mRNA and protein levels in PCa versus BPH1 and normal cells ( < 0.05). IHC results show strong cytoplasmic expressions in PCa cases ( < 0.001) as compared to BPH cases. The overall accuracy as measured by the AUC was 1.0 ( < 0.001). The sensitivity and specificity of the protein were 100% and 96.6%, respectively. Taken together, we report a high TMTC4 expression in PCa cells and tissues and its ability to differentiate between PCa and BPH with high sensitivity and specificity. This finding can be carried over to clinical practice after its confirmation by further studies. - Source: PubMed
Publication date: 2021/04/27
Makboul RaniaAbdelkawi Islam FBadary Dalia MHussein Mahmoud R ARhim Johng SToraih Eman AZerfaoui MouradAbd Elmageed Zakaria Y - The human proteins TMTC1, TMTC2, TMTC3 and TMTC4 have been experimentally shown to be components of a new O-mannosylation pathway. Their own mannosyl-transferase activity has been suspected but their actual enzymatic potential has not been demonstrated yet. So far, sequence analysis of TMTCs has been compromised by evolutionary sequence divergence within their membrane-embedded N-terminal region, sequence inaccuracies in the protein databases and the difficulty to interpret the large functional variety of known homologous proteins (mostly sugar transferases and some with known 3D structure). - Source: PubMed
Publication date: 2021/01/12
Eisenhaber BirgitSinha SwatiJadalanki Chaitanya KShitov Vladimir ATan Qiao WenSirota Fernanda LEisenhaber Frank