Ask about this productRelated genes to: MUC12 antibody
- Gene:
- MUC12 NIH gene
- Name:
- mucin 12, cell surface associated
- Previous symbol:
- MUC11
- Synonyms:
- -
- Chromosome:
- 7q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-05-14
- Date modifiied:
- 2018-11-16
Related products to: MUC12 antibody
Related articles to: MUC12 antibody
- Mucins are large glycoproteins that provide hydration and barrier function to epithelial tissues. Although genetically heterogeneous, all mucins harbor a large exon composed of variable number tandem repeats (VNTRs). Short-read sequencing has limited our understanding of mucin VNTR diversity and makes disease association studies challenging. We leverage 296 long-read phased genome assemblies to characterize 14 mucin family members, achieving ≥97% accuracy across 572 haplotypes. Phylogenetic haplogroup analysis reveals extraordinary structural heterozygosity, with harboring the greatest allelic diversity (n=240 distinct lengths) and the greatest size range (Δ = 55,233 bp; 23,080 amino acids). Ten mucins show significant population stratification (pFDR < 0.05). At the locus, we characterize higher-order structural variation, including a recurrent inversion, copy number variation, and interlocus gene conversion. Optimized genotyping achieves ≥95% haplogroup concordance across 10 loci. We apply this to 4,637 deeply phenotyped cystic fibrosis patients and identify a significant association between short VNTRs and severe disease (p=0.0056), demonstrating the pangenome's utility for complex locus genotyping and disease discovery. - Source: PubMed
Publication date: 2026/07/04
Plender Elizabeth GProdanov TimofeyLin JiadongWong IsaacWertz JulieGordon William WBamshad Michael JMunson Katherine MO'Neal Wanda KBloom Jesse D Marschall TobiasEichler Evan E - Immature teratoma is a malignant tumor and accounts for 1%-3% of ovary teratoma. The objective of this study was to find the potential single nucleotide polymorphisms (SNPs), copy number variations (CNVs) and drug targets in the immature teratoma. - Source: PubMed
Publication date: 2026/04/20
Liu YakunJia YajingDu NaiyiLi YongpingWang ChunyangKang Shan - Primary renal small cell carcinoma (PRSCC) is a rare, poorly differentiated neuroendocrine carcinoma, and its clinicopathological features and the gene mutation spectrum associated with its pathogenesis remain to be elucidated. The present study aimed to characterize the genetic mutation spectrum associated with the pathogenesis of PRSCC, identify novel driver and predisposing genes for the disease, reveal its histopathological features associated with genetic mutations and systematically summarize the clinicopathologic characteristics and prognostic factors of PRSCC patients to provide a theoretical basis for molecularly targeted therapy and prognostic assessment of PRSCC. Whole-exome sequencing (WES) was performed on PRSCC samples to characterize the spectrum of genetic mutations and the results were validated using Sanger sequencing. Immunohistochemistry (IHC) was performed to reveal the histopathological features associated with these mutations. Furthermore, based on the published literature, a population-based study was conducted by searching PubMed and EMBASE databases to systematically summarize the clinicopathologic characteristics and prognostic factors of patients with PRSCC. WES identified 113 somatic single-nucleotide variants, 26 somatic insertions and deletions and mutations in 8 predisposing genes (DST, OR10H3, PTK2B, APOBR, ZNF606, CCN4, ADCK1, and MYH2) and 10 driver genes (KRTAP10-9, HYDIN, ZNF665, KRTAP10-2, GPAM, MUC12, KRT9, CCDC168, DUSP27 and MDC1). Sanger sequencing of germline DNA identified a germline A/G variant in the HYDIN sequence, first reported in PRSCC. Furthermore, IHC analysis indicated that PRSCC was positive for CD56, Syn, insulinoma associated protein 1, CgA and neuron specific enolase. In the population-based study, the majority of patients with PRSCC were elderly (57.92±15.75 years), with a pathological tumor (T) 3/4 stage (68.3%) and presented with lymph node involvement (51.7%) and distant metastasis (51.7%). T stage was an independent prognostic factor for overall survival in patients with PRSCC (P=0.004). Driver mutations in the HYDIN gene may be a key factor in the pathogenesis of PRSCC. HYDIN may serve as a prognostic marker and a target for immunotherapy in the management of PRSCC. However, due to the extreme rarity of PRSCC, the WES analysis in the present study was based solely on individual cases. To ensure the reliability and generalizability of genetic alterations detected by WES, additional PRSCC samples, along with cell and animal experiments, are warranted to confirm the role of these genetic variants (particularly HYDIN) in PRSCC pathogenesis. The functional role of HYDIN mutations in PRSCC pathogenesis requires further validation in future research. - Source: PubMed
Publication date: 2026/03/30
Wang YangZhang LizhiXia XueyanLi Xiancheng - The use of iodinated contrast media (ICM) in computed tomography (CT) has increased significantly; however, hypersensitivity reactions (HSRs) remain a concern. This study aimed to investigate genetic factors associated with ICM-induced immediate HSRs using whole exome sequencing (WES). - Source: PubMed
Publication date: 2026/03/26
Kang NoeulKwon HoshikSeo Myung-EuiMin Byung-JooLee Byung-JaeKim Ju HanLee Ho Yun - Despite the importance of the gut microbiome to health, the role of human genetic variation in shaping its composition remains poorly understood. Here we report genome-wide association analyses of harmonized metagenomic data from 16,017 adults in four Swedish population-based studies, with replication in 12,652 people from the Norwegian HUNT study. We identified variants in the OR51E1-OR51E2 locus, encoding sensors for microbiome-derived fatty acids, associated with microbial richness. We further identified 15 study-wide significant genetic associations (P < 5.4 × 10) involving eight loci and 14 common bacterial species, of which 11 associations at six loci were replicated. The results confirm previously reported associations at LCT, ABO and FUT2, and provide evidence for new loci MUC12, CORO7-HMOX2, SLC5A11, FOXP1 and FUT3-FUT6, with supporting data from metabolomics and gene expression analyses. Our findings link gut microbial variation genetically to gastrointestinal functions, including enteroendocrine fatty acid sensing, bile composition and mucosal layer composition. - Source: PubMed
Publication date: 2026/02/13
Dekkers Koen FPertiwi KamalitaBaldanzi GabrielLundmark PerHammar UlfMoksnes Marta RiiseCoward EivindNethander MariaSalih Ghassan AliMiari MariamNguyen DiemSayols-Baixeras SergiEklund Aron CHolm Jacob BakNielsen H BjørnVolpiano Camila GazollaMéric GuillaumeThangam ManonanthiniHakaste LiisaTuomi TiinamaijaAhlqvist EmmaSmith Christopher AAllen MarieReimann FrankGribble Fiona MOhlsson ClaesHveem KristianMelander OlleNilsson Peter MEngström GunnarSmith J GustavMichaëlsson KarlÄrnlöv JohanOrho-Melander MarjuFall Tove