ArticleMammalian genome : official journal of the International Mammalian Genome Society2008
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- A comprehensive meta-analysis of transcriptome data to identify signature genes associated with pancreatic ductal adenocarcinoma.PloS one · 2024Pooled it
- TOM1 family proteins: from cargo sorting to immune dysregulation and cancer.Cell communication and signaling : CCS · 2026Review
- A TOM1 variant impairs interaction with TOLLIP, autophagosome-lysosome fusion and regulation of innate immunity.Disease models & mechanisms · 2025Article
- Rab41-mediated ESCRT machinery repairs membrane rupture by a bacterial toxin in xenophagy.Nature communications · 2023Article
- The ancestral ESCRT protein TOM1L2 selects ubiquitinated cargoes for retrieval from cilia.Developmental cell · 2023Article
- Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.International journal of molecular sciences · 2023Article
- Article
- Comparative genomics of mortal and immortal cnidarians unveils novel keys behind rejuvenation.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Protein Trafficking or Cell Signaling: A Dilemma for the Adaptor Protein TOM1.Frontiers in cell and developmental biology · 2021Review
- Article
- Recurrent BRAF Gene Rearrangements in Myxoinflammatory Fibroblastic Sarcomas, but Not Hemosiderotic Fibrolipomatous Tumors.The American journal of surgical pathology · 2017Article
- Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus.Nature communications · 2017Article
- Immune complex-mediated autoimmunity in a patient With Smith-Magenis syndrome (del 17p11.2).Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases · 2014Review
- Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.The journal of allergy and clinical immunology. In practiceArticle
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Studies have shown that the TOM1 family of proteins, including TOM1 and TOM1L1, are actively involved in endosomal trafficking and function in the immune response. However, much less is known about the function of TOM1L2. To understand the biological importance of TOM1L2 and the potential significance of its cellular role, we created and evaluated Tom1l2 gene-trapped mice with reduced Tom1l2 expression. Mice hypomorphic for Tom1l2 exhibited numerous infections and tumors compared to wild-type littermates. Associated with this increased risk for infection and tumor formation, apparently healthy Tom1l2 hypomorphs also had splenomegaly, elevated B- and T-cell counts, and an impaired humoral response, although at a reduced penetrance. Furthermore, cellular localization studies showed that a Tom1l2-GFP fusion protein colocalizes with Golgi compartments, supporting the role of Tom1l2 in cellular trafficking, while molecular modeling and bioinformatic analysis of Tom1l2 illustrated a structural basis for a functional role in trafficking. These results indicate a role for Tom1l2 in the immune response and possibly in tumor suppression.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.