Gene
nbn
- ID
- ZDB-GENE-041008-35
- Name
- nibrin
- Symbol
- nbn Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable several functions, including damaged DNA binding activity; phosphorylation-dependent protein binding activity; and protein serine/threonine kinase activator activity. Predicted to be involved in several processes, including DNA metabolic process; R-loop processing; and mitotic G2 DNA damage checkpoint signaling. Predicted to act upstream of or within double-strand break repair; meiotic cell cycle; and telomere maintenance. Predicted to be located in PML body and chromosome. Predicted to be part of Mre11 complex. Predicted to be active in chromosome, telomeric region and site of double-strand break. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; rectum cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6911679 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| acute lymphoblastic leukemia | Alliance | Leukemia, acute lymphoblastic | 613065 |
| aplastic anemia | Alliance | Aplastic anemia | 609135 |
| Nijmegen breakage syndrome | Alliance | Nijmegen breakage syndrome | 251260 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000253 | Forkhead-associated (FHA) domain |
| Domain | IPR001357 | BRCT domain |
| Domain | IPR013908 | Nibrin, C-terminal |
| Domain | IPR032429 | Nibrin, second BRCT domain |
| Family | IPR016592 | Nibrin |
| Family | IPR040227 | Nibrin-related |
| Homologous_superfamily | IPR008984 | SMAD/FHA domain superfamily |
| Homologous_superfamily | IPR036420 | BRCT domain superfamily |
| Homologous_superfamily | IPR043014 | Nibrin, second BRCT domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | BRCT domain | BRCT domain superfamily | Forkhead-associated (FHA) domain | Nibrin | Nibrin, C-terminal | Nibrin-related | Nibrin, second BRCT domain | Nibrin, second BRCT domain superfamily | SMAD/FHA domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q5I2W8 | InterPro | 818 |
Interactions and Pathways
No data available
Plasmids
No data available