Ask about this productRelated genes to: KLHDC4 Blocking Peptide
- Gene:
- KLHDC4 NIH gene
- Name:
- kelch domain containing 4
- Previous symbol:
- -
- Synonyms:
- DKFZp434G0522
- Chromosome:
- 16q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-07-05
- Date modifiied:
- 2016-10-05
Related products to: KLHDC4 Blocking Peptide
Related articles to: KLHDC4 Blocking Peptide
- We aimed to define the genetic architecture and regulatory mechanisms of Alzheimer's disease (AD) -related plasma biomarkers in an East Asian population. - Source: PubMed
Kim Jun PyoSong MinkuCho MinyoungLee HyunwooJung Sang-HyukLim SoohyunKim ChanheeJang BeomjinShin DaeunKang HeekyoungYim SohyunJang HyeminKim Bo-HyunKim Hee JinNa Duk LAn Joon-YongZetterberg HenrikBlennow KajGonzalez-Ortiz FernandoAshton Nicholas JDay Theresa ASeo Sang WonWon Hong-Hee - The clinical significance and molecular mechanisms of KLHDC4 in malignancies, particularly in clear cell renal cell carcinoma (ccRCC), remain poorly understood. In this study, we integrated multi-omics data-including transcriptomic, proteomic, and single-cell RNA sequencing-to systematically evaluate the clinical relevance and functional role of KLHDC4, followed by experimental validation. Our results demonstrated that KLHDC4 is significantly upregulated in multiple cancer types and serves as an independent prognostic biomarker for poor survival in ccRCC. KLHDC4 expression was correlated with immune cell infiltration, tumor mutational profiles, and immune checkpoint expression. Furthermore, KLHDC4 levels predicted response to drug therapies, including immunotherapy and tyrosine kinase inhibitors. Functional experiments showed that KLHDC4 knockdown suppressed proliferation, migration, and invasion in vitro, as well as tumor growth in vivo, whereas its overexpression promoted malignant phenotypes. Mechanistic investigations through RNA sequencing and Western blot analysis indicated that KLHDC4 activates the PI3K/AKT signaling pathway. Rescue assays confirmed that KLHDC4-driven oncogenic effects are partially mediated through this axis. Additionally, molecular docking identified ledipasvir as a potential KLHDC4 inhibitor. Collectively, our findings establish KLHDC4 as a novel prognostic biomarker and therapeutic predictor, highlighting the KLHDC4/PI3K/AKT axis as a potential target for ccRCC treatment. - Source: PubMed
Publication date: 2026/02/11
Xu QingjiangChen WeiliCao SenmingLi XiubinWu XiangMa Xin - Breast ductal carcinoma in situ (DCIS), a common precursor of breast cancer, has poorly understood susceptible driver genes. This study aimed to identify genes influencing DCIS progression by integrating Mendelian randomization (MR) and Gene Expression Omnibus (GEO) datasets. - Source: PubMed
Publication date: 2025/09/11
Mo Cai-QinXie Rui-WangLi Wei-WeiZhong Min-JieLi Yu-YangLin Jun-YuZhang Juan-SiZheng Sheng-KaiLin WeiKong Ling-JunXu Sun-WangChen Xiang-Jin - Various genetic association studies have identified numerous single nucleotide polymorphisms (SNPs) associated with nasopharyngeal carcinoma (NPC) risk. However, these studies have predominantly focused on common variants, leaving the contribution of rare variants to the "missing heritability" largely unexplored. Here, we integrate genotyping data from 3925 NPC cases and 15,048 healthy controls to identify a rare SNP, rs141121474, resulting in a Glu510Lys mutation in KLHDC4 gene linked to increased NPC risk. Subsequent analyses reveal that KLHDC4 is highly expressed in NPC and correlates with poorer prognosis. Functional characterizations demonstrate that KLHDC4 acts as an oncogene in NPC cells, enhancing their migratory and metastatic capabilities, with these effects being further augmented by the Glu510Lys mutation. Mechanistically, the Glu510Lys mutant exhibits increased interaction with Vimentin compared to the wild-type KLHDC4 (KLHDC4-WT), leading to elevated Vimentin protein stability and modulation of the epithelial-mesenchymal transition process, thereby promoting tumor metastasis. Moreover, Vimentin knockdown significantly mitigates the oncogenic effects induced by overexpression of both KLHDC4-WT and the Glu510Lys variant. Collectively, our findings highlight the critical role of the rare KLHDC4 variant rs141121474 in NPC progression and propose its potential as a diagnostic and therapeutic target for NPC patients. - Source: PubMed
Publication date: 2024/12/18
Cheng Xi-XiLin Guo-WangZhou Ya-QingLi Yi-QiHe ShuaiLiu YangZeng Yan-NiGuo Yun-MiaoLiu Shu-QiangPeng WanWei Pan-PanLuo Chun-LingBei Jin-Xin - At present, public databases house an extensive repository of transcriptome data, with the volume continuing to grow at an accelerated pace. Utilizing these data effectively is a shared interest within the scientific community. In this study, we introduced a novel strategy that harnesses SNPs and InDels identified from transcriptome data, combined with sample metadata from databases, to effectively screen for molecular markers correlated with traits. We utilized 228 transcriptome datasets of Eriocheir sinensis from the NCBI database and employed the Genome Analysis Toolkit software to identify 96 388 SNPs and 20 645 InDels. Employing the genome-wide association study analysis, in conjunction with the gender information from databases, we identified 3456 sex-biased SNPs and 639 sex-biased InDels. The KOG and KEGG annotations of the sex-biased SNPs and InDels revealed that these genes were primarily involved in the metabolic processes of E. sinensis. Combined with SnpEff annotation and PCR experimental validation, a highly sex-biased SNP located in the Kelch domain containing 4 (Klhdc4) gene, CHR67-6415071, was found to alter the splicing sites of Klhdc4, generating two splice variants, Klhdc4_a and Klhdc4_b. Additionally, Klhdc4 exhibited robust expression across the ovaries, testes, and accessory glands. The sex-biased SNPs and InDels identified in this study are conducive to the development of unisexual cultivation methods for E. sinensis, and the alternative splicing event caused by the sex-biased SNP in Klhdc4 may serve as a potential mechanism for sex regulation in E. sinensis. The analysis strategy employed in this study represents a new direction for the rational exploitation and utilization of transcriptome data in public databases. - Source: PubMed
Xu YuanfengYu FanFeng WenrongWei JiaSu ShengyanLi JianlinHua GuoanLi WenjingTang Yongkai