Gene

nbn

ID
ZDB-GENE-041008-35
Name
nibrin
Symbol
nbn Nomenclature History
Previous Names
  • im:6911679 (1)
  • Nbs1 (1)
  • zgc:194152 (1)
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Predicted to contribute to DNA helicase activity. Predicted to be involved in several processes, including DNA metabolic process; mitotic G2 DNA damage checkpoint; and signal transduction in response to DNA damage. Predicted to localize to Mre11 complex and nuclear chromosome, telomeric region. Human ortholog(s) of this gene implicated in several diseases, including Nijmegen breakage syndrome; acute lymphoblastic leukemia; aplastic anemia; breast cancer; and reproductive organ cancer (multiple). Orthologous to human NBN (nibrin).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nbn Human Ortholog
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
Associated With nbn Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000253 Forkhead-associated (FHA) domain
Domain IPR013908 DNA repair Nbs1, 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 Length BRCT domain superfamily DNA repair Nbs1, C-terminal Forkhead-associated (FHA) domain Nibrin Nibrin-related Nibrin, second BRCT domain Nibrin, second BRCT domain superfamily SMAD/FHA domain superfamily
UniProtKB:A0A2R8RXV8 816
UniProtKB:F8W3R1 148
UniProtKB:Q5I2W8 818
UniProtKB:E9QF00 857
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations