| Name | telomere repeat binding bouquet formation protein 2 |
| Description | Predicted to be involved in homologous chromosome pairing at meiosis and meiotic attachment of telomere to nuclear envelope. Predicted to act upstream of or within meiosis I; oogenesis; and spermatogenesis. Predicted to be located in chromosome, telomeric region. Predicted to be active in nuclear inner membrane. Implicated in spermatogenic failure 59. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTERB2 is an essential component of the tripartite meiotic telomere complex and plays a critical role in ensuring proper meiotic progression and germ cell development. Mutations in TERB2 disrupt its function, as evidenced by compound heterozygous frameshift variants that segregate with non‐obstructive azoospermia, a condition characterized by impaired spermatogenesis and germ cell maturation arrest. These findings underscore the importance of intact TERB2 function for the formation of the meiotic telomere complex and normal fertility."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nStructural studies have revealed that TERB2 serves as the central linking protein within the complex through its specific interactions with TERB1 and MAJIN. Disruption of the TERB1–TERB2 or TERB2–MAJIN interaction abolishes the stable attachment of telomeres to the nuclear envelope during meiotic prophase I, leading to aberrant homologous pairing and faulty synapsis. This highlights the indispensable role of TERB2 in establishing the molecular bridge between telomeres and nuclear structures during meiosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nComplementary investigations into the molecular architecture of the meiotic telomere complex further demonstrate that the MAJIN–TERB2 heterotetramer robustly binds telomeric DNA and is tethered to the inner nuclear membrane via long flexible linkers. This configuration not only recruits additional telomere-associated proteins, such as the TRF1-bound TERB1 complex, but also facilitates the formation of a mature attachment plate that is essential for transmitting cytoskeletal forces to drive rapid, coordinated chromosomal movements during meiosis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Albert Salas-Huetos, Frank Tüttelmann, Margot J Wyrwoll, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Disruption of human meiotic telomere complex genes TERB1, TERB2 and MAJIN in men with non-obstructive azoospermia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-020-02236-1"}], "href": "https://doi.org/10.1007/s00439-020-02236-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33211200"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33211200"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yan Wang, Yanyan Chen, Juan Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The meiotic TERB1-TERB2-MAJIN complex tethers telomeres to the nuclear envelope."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-019-08437-1"}], "href": "https://doi.org/10.1038/s41467-019-08437-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30718482"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30718482"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "James M Dunce, Amy E Milburn, Manickam Gurusaran, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural basis of meiotic telomere attachment to the nuclear envelope by MAJIN-TERB2-TERB1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-018-07794-7"}], "href": "https://doi.org/10.1038/s41467-018-07794-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30559341"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30559341"}]}]}]}
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| NCBI Gene ID | 145645 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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TERB2 has 506 functional associations with biological entities spanning 5 categories (functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 18 datasets.
Click the + buttons to view associations for TERB2 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TERB2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with TERB2 gene from the CellMarker Gene-Cell Type Associations dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of TERB2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing TERB2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 | cellular components containing TERB2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with TERB2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with TERB2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving TERB2 gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Cellular Component Annotations 2025 | cellular components containing TERB2 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TERB2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of TERB2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of TERB2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of TERB2 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TERB2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TERB2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TERB2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TERB2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with TERB2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |