Nbn Gene Summary [Mouse]

Enables chromatin-protein adaptor activity and damaged DNA binding activity. Involved in DNA metabolic process and blastocyst growth. Acts upstream of or within intracellular signal transduction; neuroblast proliferation; and neuromuscular process controlling balance. Located in PML body and replication fork. Part of Mre11 complex. Colocalizes with chromosome, telomeric region. Is expressed in several structures, including alimentary system; brain; genitourinary system; heart; and respiratory system. Used to study Nijmegen breakage syndrome and T-cell acute lymphoblastic leukemia. 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). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Nbn
Official Name
nibrin [Source:MGI Symbol;Acc:MGI:1351625]
Ensembl ID
ENSMUSG00000028224
Bio databases IDs NCBI: 27354 Ensembl: ENSMUSG00000028224
Aliases nibrin
Synonyms ATV, AT-V1, AT-V2, hNbs1, NBS, NBS1, NIBRIN, P95
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Nbn often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • histone binding
  • BRCT
  • Inner membrane component of T3SS, cytoplasmic domain
  • Regulator of Ty1 transposition protein 107 BRCT domain
  • protein binding activity, bridging
  • Mre11-binding domain
  • transcription factor binding
  • Forkhead associated domain
  • protein binding
  • DNA damage repair protein Nbs1
  • phosphorylation site
  • forkhead associated (FHA) domain superfamily
  • protein kinase activator
  • damaged DNA binding
  • FHA domain
  • atm binding domain
  • Second BRCT domain on Nijmegen syndrome breakage protein
  • MRE11 interacting domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • COVID-19
  • neoplasia
  • epithelial cancer
  • epithelial neoplasia
  • cancer
  • non-small cell lung cancer
  • non-squamous non-small cell lung cancer
  • lung carcinoma process
  • lung cancer
  • thoracic cancer
regulated by
  • doxorubicin
  • lipopolysaccharide
  • wortmannin
  • CEBPB
  • IgM
  • ATM
  • bortezomib
  • MDM2
  • ceralasertib
  • RAD50
regulates
role in cell
  • binding in
  • proliferation
  • expression in
  • production in
  • apoptosis
  • cell cycle progression
  • accumulation in
  • phosphorylation in
  • survival
  • cell death

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nuclear fraction
  • Golgi Apparatus
  • cytosol
  • nuclear foci
  • chromosome
  • nucleoplasm
  • nucleoli
  • nuclear bodies
  • DNA replication foci
  • PML nuclear bodies
  • telomeres
  • replication fork

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Nbn gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • mitotic cell cycle G2/M transition DNA damage checkpoint
  • regulation of DNA-dependent DNA replication initiation
  • intrinsic apoptotic signaling pathway
  • telomere maintenance in response to DNA damage
  • double-strand break repair
  • positive regulation of protein autophosphorylation
  • meiotic cell cycle
  • neuroblast proliferation
  • DNA duplex unwinding
  • positive regulation of kinase activity
  • regulation of cell cycle
  • positive regulation of telomere maintenance
  • isotype switching
  • DNA double-strand break processing
  • double-strand break repair via homologous recombination
  • telomere maintenance
  • DNA damage checkpoint
  • blastocyst growth
  • protection from non-homologous end joining at telomere
  • telomeric 3' overhang formation
  • DNA damage response, signal transduction by p53 class mediator
  • protein K63-linked ubiquitination
  • reciprocal DNA recombination
  • neuromuscular process controlling balance

Cellular Component

Where in the cell the gene product is active
  • nuclear inclusion body
  • site of double-strand break
  • PML body
  • Golgi apparatus
  • nucleolus
  • nucleoplasm
  • replication fork
  • nucleus
  • chromosome, telomeric region
  • BRCA1-C complex
  • cytosol
  • Mre11 complex

Molecular Function

What the gene product does at the molecular level
  • protein serine/threonine kinase activator activity
  • protein binding
  • histone binding
  • damaged DNA binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.