Ask about this productRelated genes to: CCDC138 antibody
- Gene:
- CCDC138 NIH gene
- Name:
- coiled-coil domain containing 138
- Previous symbol:
- -
- Synonyms:
- FLJ32745
- Chromosome:
- 2q13
- Locus Type:
- gene with protein product
- Date approved:
- 2007-05-02
- Date modifiied:
- 2019-02-18
Related products to: CCDC138 antibody
Related articles to: CCDC138 antibody
- Uterine corpus endometrial carcinoma (UCEC) is a prevalent malignancy of the female reproductive system with increasing incidence, necessitating the identification of molecular mechanisms and biomarkers. While coiled-coil domain-containing protein 138 (CCDC138) is implicated in ciliopathies and cancer, its role in UCEC remains underexplored. - Source: PubMed
Publication date: 2025/08/08
Wang AipingYang FangZhang ChunhuaLi ShiFu Han - Urothelial carcinoma (CIS) is an aggressive phenotype of non-muscle-invasive bladder cancer. Molecular features unique to CIS compared to high-grade papillary tumors are underexplored. RNA sequencing of CIS, papillary tumors, and normal urothelium showed lower immune marker expression in CIS compared to papillary tumors. We identified a 46-gene expression signature in CIS samples including selectively upregulated known druggable targets , , , , , and and selectively downregulated and . High expression of selected genes was significantly associated with CIS in an independent dataset. Mutation analysis of matched CIS and papillary tumors revealed shared mutations between samples across time points and mutational heterogeneity. was the most frequently mutated gene in CIS. The immunological landscape showed higher levels of PD-1-positive cells in CIS lesions compared to papillary tumors. We identified CIS lesions to have distinct characteristics compared to papillary tumors potentially contributing to the aggressive phenotype. - Source: PubMed
Publication date: 2024/02/09
Anurag MeenakshiStrandgaard TrineKim Sung HanDou YongchaoComperat EvaAl-Ahmadie HikmatInman Brant ATaber AnnNordentoft IverJensen Jørgen BjerggaardDyrskjøt LarsLerner Seth P - Microarray-based comparative genomic hybridization (aCGH) is being increasingly applied to delineate novel genomic disorders and related syndromes in patients with developmental delay. In this study, detailed clinical and cytogenetic data of three unrelated patients with interstitial 2q12.3q13 microdeletion were described and compared with thirteen 2q12.3q13 microdeletion patients, gathered from the medical literature and public databases. 60 K aCGH analysis revealed three overlapping 2q12.3q13 microdeletions measuring 1.88 Mb in patient 1, 1.25 Mb in patient 2, and 0.41 Mb in patient 3, respectively. Confirmation and segregation studies were performed using fluorescence in situ hybridization (FISH) and quantitative real-time PCR. Variable clinical features of 2q12.3q13 microdeletion including microcephaly, prenatal growth retardation, developmental delay, short stature, behavioral problems, learning difficulties, skeletal anomalies, congenital heart defects, and features of ectodermal dysplasia were observed. The boundaries and sizes of the 2q12.3q13 deletions in the sixteen patients were different, but an overlapping region of 249 kb in 2q12.3 was defined. The SRO (smallest region of overlap) encompasses four genes, including LIMS1, RANBP2, CCDC138, and EDAR. Among these genes, RANBP2 is a strong candidate gene for neurological phenotype and genetic susceptibility to viral infections. To our knowledge, this is the first published report of 2q12.3q13 microdeletion syndrome and our observations strongly suggest that these recurrent CNVs may be a novel risk factor for developmental delay with variable expressivity and incomplete penetrance. - Source: PubMed
Publication date: 2021/06/16
Huynh Minh-TuanGérard MarionRanguin KaraPichon OlivierGhesh LeilaAlfallaj KhalidJoubert MadeleineBézieau StéphaneBénéteau Claire - Macromolecular protein complexes carry out many of the essential functions of cells, and many genetic diseases arise from disrupting the functions of such complexes. Currently, there is great interest in defining the complete set of human protein complexes, but recent published maps lack comprehensive coverage. Here, through the synthesis of over 9,000 published mass spectrometry experiments, we present hu.MAP, the most comprehensive and accurate human protein complex map to date, containing > 4,600 total complexes, > 7,700 proteins, and > 56,000 unique interactions, including thousands of confident protein interactions not identified by the original publications. hu.MAP accurately recapitulates known complexes withheld from the learning procedure, which was optimized with the aid of a new quantitative metric (-cliques) for comparing sets of sets. The vast majority of complexes in our map are significantly enriched with literature annotations, and the map overall shows improved coverage of many disease-associated proteins, as we describe in detail for ciliopathies. Using hu.MAP, we predicted and experimentally validated candidate ciliopathy disease genes in a model vertebrate, discovering CCDC138, WDR90, and KIAA1328 to be new cilia basal body/centriolar satellite proteins, and identifying ANKRD55 as a novel member of the intraflagellar transport machinery. By offering significant improvements to the accuracy and coverage of human protein complexes, hu.MAP (http://proteincomplexes.org) serves as a valuable resource for better understanding the core cellular functions of human proteins and helping to determine mechanistic foundations of human disease. - Source: PubMed
Publication date: 2017/06/08
Drew KevinLee ChanjaeHuizar Ryan LTu FanBorgeson BlakeMcWhite Claire DMa YunWallingford John BMarcotte Edward M