TERB2 Gene - Telomere Repeat Binding Bouquet Formation Protein 2
Essential for meiotic telomere attachment and homologous chromosome pairing
Gene Information Card
| Symbol | TERB2 |
|---|---|
| Full Name | Telomere Repeat Binding Bouquet Formation Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 56944 ncbi.nlm.nih.gov/gene/56944 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q5T9L3 |
| OMIM ID | 617783 |
| HGNC ID | 28347 |
| Aliases | C15orf57, TERB2, MGC12966 |
Description
TERB2 encodes a protein involved in meiotic telomere attachment to the nuclear envelope, essential for homologous chromosome pairing and bouquet formation during prophase I of meiosis. It interacts with TERB1 and MAJIN to form a complex that anchors telomeres to the inner nuclear membrane.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility with azoospermia | Loss of TERB2 disrupts telomere attachment, impairing homologous pairing and meiotic progression | OMIM 617783; PMID: 28495970 |
| Female infertility (ovarian failure) | Similar meiotic defects in oogenesis due to disrupted telomere-nuclear envelope attachment | OMIM 617783; PMID: 28495970 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 3.2 | Low |
| Fallopian tube | 1.8 | Low |
| Skin | 0.5 | Not detected |
| Lung | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes (human) | High | Meiotic-specific expression |
| HEK293 | Low | Non-meiotic cell line |
| K562 | Not detected | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | Rare | Loss of protein expression; associated with azoospermia |
| c.325C>T (p.Arg109*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, disrupting telomere attachment and meiosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • condensed chromosome (GO:0000793) |
| • telomere (GO:0000794) | • reciprocal meiotic recombination (GO:0007131) |
| • nuclear envelope (GO:0005635) | • cytoplasm (GO:0005737) |
Pathways
• Meiotic telomere attachment (Reactome: R-HSA-912446)
• Meiotic recombination (Reactome: R-HSA-912446)
Protein Summary
TERB2 is a 248-amino acid protein localized to the nuclear envelope and telomeres during meiosis. It forms a complex with TERB1 and MAJIN, anchoring telomeres to the inner nuclear membrane to facilitate chromosome movement and homologous pairing. Expression is predominantly in testis and ovary.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TERB2 Knockout HEK293 Cell Line | EDJ-KQ10450 | Human | 145645 | Details Get a Quote |
| TERB2 Knockout HeLa Cell Line | EDJ-KQ58524 | Human | 145645 | Details Get a Quote |
| TERB2 Knockout A-549 Cell Line | EDJ-KQ67015 | Human | 145645 | Details Get a Quote |
| TERB2 Knockout HCT 116 Cell Line | EDJ-KQ75415 | Human | 145645 | Details Get a Quote |
