ANKS6
- Known as:
- ANKS6
- Catalog number:
- 001664A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ANKS6
Related genes to: ANKS6
- Gene:
- ANKS6 NIH gene
- Name:
- ankyrin repeat and sterile alpha motif domain containing 6
- Previous symbol:
- SAMD6, ANKRD14
- Synonyms:
- FLJ36928, NPHP16
- Chromosome:
- 9q22.33
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-19
- Date modifiied:
- 2016-10-05
Related products to: ANKS6
Related articles to: ANKS6
- Carcinoma showing thymus-like differentiation (CASTLE) is a rare malignancy arising in the thyroid or neck, with an uncertain cellular origin that complicates both diagnosis and treatment. To better understand its molecular underpinnings and identify potential therapeutic avenues, we conducted integrated whole-exome and transcriptome sequencing on six CASTLE and six thymic carcinoma samples. Whole-exome sequencing (WES) was performed on all 12 samples, while RNA sequencing was successful for 1 CASTLE and 6 thymic carcinoma samples. Our analysis included somatic mutation profiling, mutational signature deconvolution, differential gene expression, and characterization of tumor microenvironment for the cases with available data, with comparisons to genomic data from other thyroid cancers. CASTLE tumors demonstrated a higher median tumor mutational burden than thymic carcinoma and lacked the common and mutations typically found in thyroid cancers. They harbored alterations in genes such as , cilia-associated genes (, , ), and Wnt signaling components (, ), as well as mutational signatures suggestive of mismatch repair deficiency and oxidative damage. MSIsensor-pro analysis of the WES data provided support for the potential for mismatch repair deficiency in a subset of CASTLE samples. Exploratory transcriptomic analysis from a single CASTLE case showed downregulation of thyroid follicular markers and an "immune-hot", lymphocyte-rich microenvironment, closely resembling that of thymic carcinoma. While these findings require validation in larger cohorts, they support a thymic origin for CASTLE and establish its molecular distinction from follicular-derived thyroid cancers. The immunogenic tumor landscape suggests that immune checkpoint inhibitors, particularly those targeting PD-1/PD-L1, may be a promising therapeutic strategy, alongside emerging targets for precision oncology. - Source: PubMed
Publication date: 2026/04/14
Cho William CYu Allen C SCheuk WahYim Aldrin K YChow James C HChan John K CCheung Ka M - Gemcitabine resistance remains a significant problem in cholangiocarcinoma (CCA) treatment. The present study aimed to identify novel molecular targets associated with gemcitabine resistance in CCA using integrated bioinformatics, molecular docking, and experimental validation. Commonly differentially expressed genes (DEGs) were identified based on three public transcriptomic datasets (GSE116118, GSE208659, and GSE140077) from stable gemcitabine-resistant cancer cell lines. Expression levels of selected upregulated genes were validated in Thai patients with CCA using the GEO datasets. Further validation was performed using real-time PCR on parental and gemcitabine-resistant CCA cell lines (KKU-213A/KKU-100 and KKU-213A-GemR/KKU-100-GemR). The 3D structure of the candidate protein was modeled using AlphaFold3 and refined by molecular dynamics simulations. Druggable pockets were predicted using CavityPlus. Virtual screening of 5,396 drug-repurposing compounds was performed using AutoDock Vina to identify potential inhibitors of the candidate protein. In total, 14 DEGs were commonly upregulated in three datasets from stable gemcitabine-resistant cancer cell lines. A total of six genes, including RAB1B, JAG1, PACS1, ANKS6, SF3B4, and RTKN2, were significantly elevated in CCA tissues compared with adjacent normal tissues. Reverse transcription-quatitative PCR confirmed that RTKN2 was significantly overexpressed in two stable gemcitabine-resistant CCA cell lines, KKU-213A-GemR and KKU-100-GemR. Pathway analysis of RTKN2-associated genes revealed enrichment in mitochondrial and metabolic processes, including suppression of the TP53-regulated metabolic pathway. Molecular docking analysis identified several candidate compounds with strong binding affinities to RTKN2 (-10.49 to -11.47 kcal/mol), including NKP608, tegatrabetan, umbralisib, vepdegestrant, and MK-3207. RTKN2 was identified as a novel and druggable molecular target potentially contributing to gemcitabine resistance in CCA. Targeting RTKN2 may offer a promising approach to overcome chemoresistance and improve outcomes for patients with CCA. - Source: PubMed
Publication date: 2026/03/03
Kidoikhammouan SonexaiMahalapbutr PanupongMa-In PrasertsriLert-Itthiporn WorachartDeenonpoe RaksawanSuriya UtidWongkham SopitSeubwai Wunchana - Polycystic kidney disease (PKD) encompasses a group of genetic disorders characterized by the proliferation of fluid-filled renal cysts, leading to progressive renal failure and death. A key feature of PKD is its variable expressivity across patients, even when caused by the same variant, highlighting the importance of genetic background in PKD expression. - Source: PubMed
Publication date: 2026/03/11
Pemberton Trevor JWinter TanjaHemming RichardBlant AlexandraFresnoza Agnes LBarker Emily NAshiri MehrafarinXiang BoDolinsky Vernon WTriggs-Raine BarbaraAukema Harold M - Here we describe the current knowledge about the ciliary kinase NEK8, highlighting what we know and what we don't know about its regulation, substrates and potential functions. We also review the literature about the pathological consequences of different NEK8 variants in patients of nephronophthisis, renal-hepatic-pancreatic dysplasia and autosomal dominant polycystic kidney disease, three different types of ciliopathies. NEK8 belongs to the NIMA family of serine/threonine protein kinases. Like its closest relative, NEK9, it contains a protein kinase and an RCC1 domain, but lacks the C-terminal region that is key for NEK9's regulation as a G2/M kinase. Importantly, NEK8 localizes to cilia as part of a multimeric protein complex that assembles in a fibrillar fashion at the proximal half of this signaling organelle, defining what is known as the INV compartment. NEK8 and its INV compartment partners inversin, ANKS6 and NPHP3 are necessary for left-right determination and the correct development of different organs such as the kidney, the heart and the liver. But the kinase substrates, regulatory mechanism and activating cues and thus the molecular basis of NEK8 important physiological roles remain elusive. We present the current findings regarding NEK8 and also highlight what we miss in order to progress towards the understanding of the kinase and the function of the INV complex at the cilia. - Source: PubMed
Publication date: 2025/04/07
Roig Joan - Nephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure. plays an important role in early kidney development and encodes a protein that interacts with other proteins within the primary cilium. mutations are known to cause nephronophthisis 16 (NPHP-16). Little is known regarding fetal ultrasound imaging and the antenatal diagnosis of fetuses with -associated kidney disease. Here, we report the detection of variants in consanguineous families with polycystic kidney antenatally and in the early stages of life. - Source: PubMed
Publication date: 2024/10/25
Almohlesy Lama SImtiaz FaiqaTulbah MahaAlhashem AmalAlhajooj ManarAlhashem AbdullahMabillard HollySayer John AAlharbi Khalid KAl-Hamed Mohamed H