TOP6BL: Topoisomerase VI B-Like
A Putative Meiotic Recombination Gene with Limited Functional Characterization
Gene Information Card
| Symbol | TOP6BL |
|---|---|
| Full Name | TOP6B like (topoisomerase VI B-like) |
| Gene Type | Protein-coding |
| Chromosomal Location | 11q12.1 |
| NCBI Gene ID | 123720 ncbi.nlm.nih.gov/gene/123720 |
| Ensembl ID | ENSG00000149380 |
| UniProt ID | Q5T0D9 |
| OMIM ID | 618807 |
| HGNC ID | 28380 |
| Aliases | FLJ22582, MGC138290, dJ1181N3.1 |
Description
TOP6BL (TOP6B like) is a protein-coding gene located on chromosome 11q12.1. It encodes a protein with similarity to the B subunit of topoisomerase VI, an enzyme involved in DNA topology regulation. The gene is thought to play a role in meiotic recombination, particularly in the resolution of meiotic double-strand breaks. Its expression is enriched in testis and certain other tissues. The precise biological function and disease associations of TOP6BL remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No confirmed disease associations | Not established | No curated evidence in OMIM, ClinVar, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Fallopian tube | 5.2 | Low |
| Ovary | 4.8 | Low |
| Breast | 3.1 | Low |
| Prostate | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.7 | Moderate expression |
| HeLa | 6.4 | Moderate expression |
| K562 | 4.1 | Low expression |
| HepG2 | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants curated | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Gene Ontology (GO)
| • DNA topoisomerase activity (GO:0003916) | • DNA topological change (GO:0006265) |
| • reciprocal meiotic recombination (GO:0007131) | • nucleus (GO:0005634) |
Pathways
• Meiotic recombination (Reactome: R-HSA-912446)
Protein Summary
The TOP6BL protein is predicted to be a nuclear protein with DNA topoisomerase activity, potentially involved in altering DNA topology during meiotic recombination. It shares structural homology with the B subunit of type II topoisomerase VI, but its exact catalytic function and interaction partners in humans are not fully characterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TOP6BL Knockout HEK293 Cell Line | EDJ-KQ12653 | Human | 79703 | Details Get a Quote |
| TOP6BL Knockout HeLa Cell Line | EDJ-KQ40443 | Human | 79703 | Details Get a Quote |
| TOP6BL Knockout A-549 Cell Line | EDJ-KQ41728 | Human | 79703 | Details Get a Quote |
| TOP6BL Knockout HCT 116 Cell Line | EDJ-KQ41729 | Human | 79703 | Details Get a Quote |
