NBN Gene (Protein Coding)

Nibrin

GC08M089933
GIFtS:
48
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involv... See more...

Aliases for NBN Gene

Aliases for NBN Gene

  • Nibrin 2 3 4 5
  • Nijmegen Breakage Syndrome 1 (Nibrin) 2 3
  • Cell Cycle Regulatory Protein P95 3 4
  • AT-V1 2 3
  • AT-V2 2 3
  • NBS1 3 4
  • ATV 2 3
  • NBS 3 4
  • P95 3 4
  • P95 Protein Of The MRE11/RAD50 Complex 3
  • Nijmegen Breakage Syndrome Protein 1 4
  • NBN 5

External Ids for NBN Gene

Previous HGNC Symbols for NBN Gene

  • NBS
  • NBS1

Previous GeneCards Identifiers for NBN Gene

  • GC08M091015
  • GC08M086155
  • GC08M090945

Summaries for NBN Gene

Entrez Gene Summary for NBN Gene

  • Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]

CIViC Summary for NBN Gene

GeneCards Summary for NBN Gene

NBN (Nibrin) is a Protein Coding gene. Diseases associated with NBN include Nijmegen Breakage Syndrome and Aplastic Anemia. Among its related pathways are DNA Double-Strand Break Repair and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include transcription factor binding and damaged DNA binding.

UniProtKB/Swiss-Prot Summary for NBN Gene

  • Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex.

Gene Wiki entry for NBN Gene

Additional gene information for NBN Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NBN Gene

Genomics for NBN Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NBN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBN

Top Transcription factor binding sites by QIAGEN in the NBN gene promoter:
  • AP-1
  • p53
  • STAT3
  • TBP

Genomic Locations for NBN Gene

Latest Assembly
chr8:89,933,331-90,003,228
(GRCh38/hg38)
Size:
69,898 bases
Orientation:
Minus strand

Previous Assembly
chr8:90,945,559-90,996,895
(GRCh37/hg19 by Entrez Gene)
Size:
51,337 bases
Orientation:
Minus strand

chr8:90,945,564-91,015,456
(GRCh37/hg19 by Ensembl)
Size:
69,893 bases
Orientation:
Minus strand

Genomic View for NBN Gene

Genes around NBN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBN Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NBN Gene

Proteins for NBN Gene

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  • Protein details for NBN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60934-NBN_HUMAN
    Recommended name:
    Nibrin
    Protein Accession:
    O60934
    Secondary Accessions:
    • B2R626
    • B2RNC5
    • O60672
    • Q32NF7
    • Q53FM6
    • Q63HR6
    • Q7LDM2

    Protein attributes for NBN Gene

    Size:
    754 amino acids
    Molecular mass:
    84959 Da
    Quaternary structure:
    • Component of the MRN complex composed of two heterodimers RAD50/MRE11 associated with a single NBN (PubMed:26215093, PubMed:9590181, PubMed:9705271, PubMed:11238951). As part of the MRN complex, interacts with MCM9; the interaction recruits the complex to DNA repair sites (PubMed:26215093). Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11 and NBN (PubMed:10783165). Interacts with histone H2AX this requires phosphorylation of H2AX on 'Ser-139' (PubMed:12419185). Interacts with HJURP (PubMed:17823411). Interacts with INTS3 (PubMed:19683501). Interacts with KPNA2 (PubMed:16188882). Interacts with TERF2 (PubMed:10888888). Interacts with RBBP8; the interaction links the role of the MRN complex in DNA double-strand break sensing to resection (PubMed:19759395). Interacts with SP100; recruits NBN to PML bodies (PubMed:12470659). Interacts with ATF2 (PubMed:15916964). Interacts with MTOR, MAPKAP1 isoform 2 and RICTOR; indicative for an association with the mTORC2 complex (PubMed:23762398). Interacts with MRNIP (PubMed:27568553). Interacts with UFL1; promoting UFL1 recruitment to double-strand breaks following DNA damage (PubMed:30886146).
    • (Microbial infection) Interacts with herpes simplex virus 1 protein UL12.
    SequenceCaution:
    • Sequence=AAI08651.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence starting in position 550.; Evidence={ECO:0000305}; Sequence=CAH56160.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral oncoproteins, thereby preventing concatenation of viral genomes in infected cells.

    Three dimensional structures from OCA and Proteopedia for NBN Gene

neXtProt entry for NBN Gene

Protein Expression for NBN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NBN Gene

  • Phosphorylated by ATM in response of ionizing radiation, and such phosphorylation is responsible intra-S phase checkpoint control and telomere maintenance.
  • Ubiquitination at Lys683
  • Modification sites at PhosphoSitePlus

Other Protein References for NBN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for NBN Gene

Domains & Families for NBN Gene

Gene Families for NBN Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NBN Gene

InterPro:
Blocks:
  • Forkhead-associated (FHA)
  • BRCT domain
  • DNA repair Nbs1, C-terminal

Suggested Antigen Peptide Sequences for NBN Gene

GenScript: Design optimal peptide antigens:
  • NBN protein (A0PJ71_HUMAN)
  • Nibrin (A6H8Y5_HUMAN)
  • Nijmegen breakage syndrome protein 1 (NBN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60934

UniProtKB/Swiss-Prot:

NBN_HUMAN :
  • The FHA and BRCT domains are likely to have a crucial role for both binding to histone H2AX and for relocalization of MRE11/RAD50 complex to the vicinity of DNA damage.
Domain:
  • The FHA and BRCT domains are likely to have a crucial role for both binding to histone H2AX and for relocalization of MRE11/RAD50 complex to the vicinity of DNA damage.
  • The C-terminal domain contains a MRE11-binding site, and this interaction is required for the nuclear localization of the MRN complex.
  • The EEXXXDDL motif at the C-terminus is required for the interaction with ATM and its recruitment to sites of DNA damage and promote the phosphorylation of ATM substrates, leading to the events of DNA damage response.
genes like me logo Genes that share domains with NBN: view

Function for NBN Gene

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  6. Cell Lines for research

Molecular function for NBN Gene

UniProtKB/Swiss-Prot Function:
Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex.
UniProtKB/Swiss-Prot Induction:
Up-regulated by ionizing radiation (IR).

Phenotypes From GWAS Catalog for NBN Gene

Gene Ontology (GO) - Molecular Function for NBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003684 contributes_to damaged DNA binding IBA,IC 9590180
GO:0005515 protein binding IEA,IPI 12419185
GO:0008134 transcription factor binding IPI 11486038
GO:0047485 protein N-terminus binding IPI 9590181
genes like me logo Genes that share ontologies with NBN: view
genes like me logo Genes that share phenotypes with NBN: view

Human Phenotype Ontology for NBN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NBN Gene

MGI Knock Outs for NBN:
  • Nbn Nbn<tm1Jpt>
  • Nbn Nbn<tm1Xu>
  • Nbn Nbn<tm2.1Zqw>
  • Nbn Nbn<tm1Zqw>
  • Nbn Nbn<tm1Nus>
  • Nbn Nbn<tm2.1Jpt>
  • Nbn Nbn<tm3Jpt>
  • Nbn Nbn<tm1.1Md>

Animal Models for research

miRNA for NBN Gene

miRTarBase miRNAs that target NBN

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBN

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NBN Gene

Localization for NBN Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBN Gene

Nucleus. Nucleus, PML body. Chromosome, telomere. Chromosome. Note=Localizes to discrete nuclear foci after treatment with genotoxic agents. {ECO:0000269 PubMed:10783165, ECO:0000269 PubMed:26215093}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NBN gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 colocalizes_with chromosome, telomeric region IEA,ISS --
GO:0005634 nucleus IEA,IDA 10888888
GO:0005654 nucleoplasm TAS --
GO:0005657 replication fork IEA --
GO:0005694 chromosome IEA --
genes like me logo Genes that share ontologies with NBN: view

Pathways & Interactions for NBN Gene

genes like me logo Genes that share pathways with NBN: view

Pathways by source for NBN Gene

2 KEGG pathways for NBN Gene
3 GeneGo (Thomson Reuters) pathways for NBN Gene
  • DNA damage_ATM/ATR regulation of G1/S checkpoint
  • DNA damage_NHEJ mechanisms of DSBs repair
  • DNA damage_Role of Brca1 and Brca2 in DNA repair
7 Qiagen pathways for NBN Gene
  • ATM Pathway
  • BRCA1 Pathway
  • Chks in Checkpoint Regulation
  • DNA Repair Mechanisms
  • Fanconi's Anaemia Pathway
1 Cell Signaling Technology pathway for NBN Gene
1 GeneTex pathway for NBN Gene

SIGNOR curated interactions for NBN Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for NBN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IDA 12529385
GO:0000723 telomere maintenance IEA,IMP 11448772
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0000729 DNA double-strand break processing TAS --
GO:0001701 in utero embryonic development IEA --
genes like me logo Genes that share ontologies with NBN: view

Drugs & Compounds for NBN Gene

Products:

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(10) Drugs for NBN Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rucaparib Approved, Investigational Pharma PARP inhibitor, PARP Inhibitors, Other 64
Poly(ADP-ribose) Polymerase Inhibitors Pharma 725

(5) Additional Compounds for NBN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NBN: view

Transcripts for NBN Gene

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mRNA/cDNA for NBN Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBN

Alternative Splicing Database (ASD) splice patterns (SP) for NBN Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - - - - - -
SP5: -
SP6: -
SP7:
SP8:

ExUns: 17 ^ 18a · 18b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for NBN Gene

GeneLoc Exon Structure for
NBN

Expression for NBN Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBN Gene

mRNA expression in normal human tissues for NBN Gene
mRNA expression by BioGPS for NBN GenemRNA expression by GTEx for NBN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NBN Gene

This gene is overexpressed in Breast (20.1), Peripheral blood mononuclear cells (19.3), and CD8 Tcells (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NBN Gene



Protein tissue co-expression partners for NBN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBN

SOURCE GeneReport for Unigene cluster for NBN Gene:

Hs.492208

mRNA Expression by UniProt/SwissProt for NBN Gene:

O60934-NBN_HUMAN
Tissue specificity: Ubiquitous. Expressed at high levels in testis.

Evidence on tissue expression from TISSUES for NBN Gene

  • Nervous system(4.7)
  • Intestine(4.5)
  • Skin(4.4)
  • Liver(4.4)
  • Blood(2.3)
  • Bone marrow(2.1)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NBN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • scalp
  • sinus
  • skull
Thorax:
  • breast
  • bronchus
  • lung
  • thymus
Abdomen:
  • intestine
  • kidney
  • large intestine
  • small intestine
Pelvis:
  • anus
  • ovary
  • prostate
  • rectum
  • ureter
  • urethra
  • urinary bladder
  • vagina
General:
  • blood
  • bone marrow
  • coagulation system
  • hair
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with NBN: view

Primer products for research

No data available for mRNA differential expression in normal tissues for NBN Gene

Orthologs for NBN Gene

This gene was present in the common ancestor of animals.

Orthologs for NBN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NBN 29 30
  • 98.81 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NBN 29 30
  • 87.04 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NBN 29
  • 86.26 (n)
-- 30
  • 77 (a)
 OneToMany
-- 30
  • 69 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Nbn 29
  • 78.1 (n)
Mouse
(Mus musculus)
 Mammalia Nbn 29 16 30
  • 77.88 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NBN 30
  • 62 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 61 (a)
 OneToMany
-- 30
  • 49 (a)
 OneToMany
-- 30
  • 49 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves NBN 29 30
  • 63.32 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NBN 30
  • 47 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia nbn 29
  • 54.9 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.9528 29
Zebrafish
(Danio rerio)
 Actinopterygii nbn 29 30
  • 52.58 (n)
 OneToOne
Dr.17261 29
Fruit Fly
(Drosophila melanogaster)
 Insecta nbs 30
  • 20 (a)
 OneToOne
Species where no ortholog for NBN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for NBN Gene

ENSEMBL:
Gene Tree for NBN (if available)
TreeFam:
Gene Tree for NBN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NBN: view image
Alliance of Genome Resources:
Additional Orthologs for NBN

Paralogs for NBN Gene

No data available for Paralogs for NBN Gene

Variants for NBN Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NBN Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
1000078 Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency 89,971,241(-) G/T
NM_002485.5(NBN):c.634C>A (p.Leu212Met) 		MISSENSE
1000422 Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency 89,953,580(-) A/T
NM_002485.5(NBN):c.1509T>A (p.Asn503Lys) 		MISSENSE
1001381 Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency 89,946,210(-) G/A
NM_002485.5(NBN):c.2000C>T (p.Ser667Phe) 		MISSENSE
1002234 Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency 89,980,787(-) A/G
NM_002485.5(NBN):c.427T>C (p.Trp143Arg) 		MISSENSE
1002359 Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency 89,970,541(-) G/A
NM_002485.5(NBN):c.719C>T (p.Ser240Phe) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NBN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NBN Gene

Variant ID Type Subtype PubMed ID
esv3617988 CNV loss 21293372

Variation tolerance for NBN Gene

Residual Variation Intolerance Score: 86.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.40; 88.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBN Gene

Human Gene Mutation Database (HGMD)
NBN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBN
Leiden Open Variation Database (LOVD)
NBN

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBN Gene

Disorders for NBN Gene

MalaCards: The human disease database

(37) MalaCards diseases for NBN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
nijmegen breakage syndrome
  • nbs
aplastic anemia
  • aplastic anemia, susceptibility to
childhood acute lymphocytic leukemia
  • childhood acute lymphoblastic leukemia
leukemia, acute lymphoblastic
  • all
breast-ovarian cancer, familial 1
  • breast-ovarian cancer, familial, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search NBN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NBN_HUMAN
  • Nijmegen breakage syndrome (NBS) [MIM:251260]: A disorder characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation, immunodeficiency and predisposition to cancer, particularly to lymphoid malignancies. {ECO:0000269 PubMed:9590180}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case. {ECO:0000269 PubMed:14684699}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Aplastic anemia (AA) [MIM:609135]: A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia. {ECO:0000269 PubMed:15338273}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.
  • Note=Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL). {ECO:0000269 PubMed:11325820}.

Additional Disease Information for NBN

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NBN: view

No data available for Genatlas for NBN Gene

Publications for NBN Gene

  1. Mutations in the Nijmegen breakage syndrome gene in medulloblastomas. (PMID: 18593981) Huang J … Ohgaki H (Clinical cancer research : an official journal of the American Association for Cancer Research 2008) 3 22 40 72
  2. First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. (PMID: 15338273) Shimada H … Ohki M (Human genetics 2004) 3 4 22 72
  3. Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL). (PMID: 11325820) Varon R … Seeger K (Cancer research 2001) 3 4 22 72
  4. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. (PMID: 9590180) Varon R … Reis A (Cell 1998) 2 3 4 72
  5. Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51. (PMID: 20004634) Silva SN … Gaspar JF (Cancer epidemiology 2010) 3 22 40

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