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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
External Ids for NBN Gene
- HGNC: 7652
- Entrez Gene: 4683
- Ensembl: ENSG00000104320
- OMIM: 602667
- UniProtKB: O60934
Previous HGNC Symbols for NBN Gene
- NBS
- NBS1
Previous GeneCards Identifiers for NBN Gene
- GC08M091015
- GC08M086155
- GC08M090945
Summaries 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]
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 ATM Pathway and Homologous DNA Pairing and Strand Exchange. 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.
Additional gene information for NBN Gene
- HGNC(7652)
- Entrez Gene(4683)
- Ensembl(ENSG00000104320)
- OMIM(602667)
- UniProtKB(O60934)
- Open Targets Platform(ENSG00000104320)
- Monarch Initiative
- Search for NBN at DataMed
- Search for NBN at HumanCyc
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
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
Genomic Locations for NBN Gene
- chr8:89,933,331-90,003,228
- (GRCh38/hg38)
- Size:
- 69,898 bases
- Orientation:
- Minus strand
- chr8:90,945,564-91,015,456
- (GRCh37/hg19)
- 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:
-
- 8q21.3 by HGNC
- 8q21.3 by Entrez Gene
- 8q21.3 by Ensembl
NBN Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NBN Gene
Proteins for NBN Gene
-
Protein details for NBN Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O60934-NBN_HUMAN
- Recommended name:
- Nibrin
- Protein Accession:
- O60934
- 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).
- (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.
Protein Expression for NBN Gene
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
- NX_O60934 (NX_O60934-1)
- Modification sites at PhosphoSitePlus
Other Protein References for NBN Gene
Antibody Products
- NSJ Bioreagents NBS1 Antibody / NBN (Rabbit Monoclonal)
- GeneTex Anti-NBS1 antibody [1C3] and Anti-NBS1 antibody [1D7]
-
Custom Antibody ServicesOriGene Antibodies for NBN
- AP01891PU-N
- AP02356PU-N
- AP02356PU-S
- AP02599PU-N
- AP02599PU-S
- AP06274PU-N
- AP06799PU-N
- AP20504PU-N
- AP52817PU-N
- CF801214
- CF801215
- CF801216
- CF801217
- CF801218
- CF801219
- CF801220
- CF801251
- CF801388
- CF801389
- CF801390
- CF801410
- CF801421
- CF801422
- CF801423
- CF801424
- CF801426
- CF801427
- CF801448
- CF801520
- CF801524
- CF801525
- CF801552
- CF801553
- TA301768
- TA313094
- TA323004
- TA323005
- TA325706
- TA325707
- TA326620
- TA326621
- TA333259
- TA336720
- TA336721
- TA347797
- TA348447
- TA590684
- TA801214
- TA801214S
- TA801215
- TA801215S
- TA801216
- TA801216S
- TA801217
- TA801217S
- TA801218
- TA801218S
- TA801219
- TA801219S
- TA801220
- TA801220S
- TA801251
- TA801251S
- TA801388
- TA801388S
- TA801389
- TA801389S
- TA801390
- TA801390S
- TA801410
- TA801410S
- TA801421
- TA801421S
- TA801422
- TA801422S
- TA801423
- TA801423S
- TA801424
- TA801424S
- TA801426
- TA801426S
- TA801427
- TA801427S
- TA801448
- TA801448S
- TA801520
- TA801520S
- TA801524
- TA801524S
- TA801525
- TA801525S
- TA801552
- TA801552S
- TA801553
- TA801553S
- UM800029
- UM800029CF
- UM800030
- UM800030CF
- UM870029
- UM870030
- Novus Biologicals Antibodies for NBN
-
Abcam antibodies for NBN
- Invitrogen Antibodies for NBN (AFLGC-NBN)
- antibodies-online: Show 92 available Nibrin Antibodies ranked by validation data
- Compare Top Nibrin Antibodies
-
Recommended
- 239 WB Antibodies (anti-human)
- 24 IF (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 5 IHC (p) Antibodies (anti-human)
- 1 IF (cc) Antibody (anti-human)
- 47 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 1 IF (cc) Antibody (anti-mouse)
- 58 WB Antibodies (anti-rat)
- 24 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 1 IF (cc) Antibody (anti-rat)
-
Boster Bio Antibodies for NBN
-
Custom Antibody ServicesProSci Antibodies for NBN
-
Santa Cruz Biotechnology (SCBT) Antibodies for NBN
Protein Products
-
OriGene Purified Proteins for NBN
- Search Origene for MassSpec and Protein Over-expression Lysates for NBN
- Origene Custom Protein Services for NBN
-
Abcam proteins for NBN
Assay Products
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
- ProtoNet:
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
O60934UniProtKB/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.
Function for NBN Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003678 | contributes_to DNA helicase activity | IBA,IMP | 15790808 |
| 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 |
Phenotypes for NBN Gene
- MGI mutant phenotypes for NBN:
-
inferred from 11 alleles
- nervous system phenotype
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- neoplasm
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- hematopoietic system phenotype
- embryo phenotype
- GenomeRNAi human phenotypes for NBN:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Decreased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage
- Decreased shRNA abundance
- Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435)
- Increased ID2::GFP protein expression
Animal Models for NBN Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NBN - Select products 50% OFF >
- * NBN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NBN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NBN
-
Santa Cruz Biotechnology (SCBT) CRISPR for NBN
miRNA for NBN Gene
- miRTarBase miRNAs that target NBN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NBN
- Browse OriGene Inhibitory RNA Products For NBN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBN
Clone Products
- Applied Biological Materials (abm): Clones for NBN - Select products 50% OFF >
- * NBN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NBN
- Addgene plasmids for NBN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| mitochondrion | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Golgi apparatus (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000781 | chromosome, telomeric region | IEA | -- |
| GO:0000784 | colocalizes_with nuclear chromosome, telomeric region | IBA,ISS | -- |
| GO:0005634 | nucleus | IEA,IDA | 10888888 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005657 | replication fork | IEA | -- |
Pathways & Interactions for NBN Gene
Pathways by source for NBN Gene
9 BioSystems pathways for NBN Gene
31 Reactome pathways 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
Interacting Proteins for NBN Gene
Selected Interacting proteins:
O60934-NBN_HUMAN
ENSP00000265433
for NBN Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for NBN
SIGNOR curated interactions 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 | -- |
Transcripts for NBN Gene
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 :
-
- ENST00000265433 4622 nts (view in UCSC)
- ENST00000396252 4907 nts (view in UCSC)
- ENST00000409330 4523 nts (view in UCSC)
- ENST00000474821 503 nts (view in UCSC)
- ENST00000494804 593 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NBN - Select products 50% OFF >
- * NBN CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for NBN
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NBN
-
Santa Cruz Biotechnology (SCBT) CRISPR for NBN
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NBN
- Browse OriGene Inhibitory RNA Products For NBN
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBN
Clone Products
- Applied Biological Materials (abm): Clones for NBN - Select products 50% OFF >
- * NBN as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for NBN
- Addgene plasmids for NBN
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NBN
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
- Hematopoietic Bone Marrow
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
- Oviduct
- Brain (Nervous System)
- Intestine (Gastrointestinal Tract)
- Pancreas (Endocrine System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBN
SOURCE GeneReport for Unigene cluster for NBN Gene:
Hs.492208mRNA 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(4.8)
- Intestine(4.5)
- Skin(4.4)
- Liver(4.4)
- Blood(2.4)
- Lymph node(2.2)
- Bone marrow(2.2)
- Thyroid gland(2.1)
- Kidney(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
Primer Products
-
OriGene qPCR primer pairs for NBN
-
OriGene qPCR primer pairs and template standards for NBN
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | NBN 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | NBN 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | NBN 30 |
|
||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Nbn 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Nbn 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | NBN 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | NBN 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | NBN 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nbn 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9528 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | nbn 30 31 |
|
OneToOne | |
| Dr.17261 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | nbs 31 |
|
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
Paralogs for NBN Gene
No data available for Paralogs for NBN Gene
Variants for NBN Gene
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 |
|---|---|---|---|---|---|
| 411760 | Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency; not provided | 89,955,482(-) | CA/TG | MISSENSE_VARIANT | |
| 627700 | Uncertain Significance: Hereditary cancer-predisposing syndrome | 89,946,194(-) | TG/CA | MISSENSE_VARIANT | |
| 627767 | Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predisposing syndrome | 89,971,269(-) | TTCA/T | INFRAME_DELETION | |
| 639055 | Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency | 89,964,512(-) | TAGAATA/T | INTRON_VARIANT | |
| 639115 | Uncertain Significance: Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predisposing syndrome | 89,955,321(-) | G/T | MISSENSE_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3617988 | CNV | loss | 21293372 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBN Gene
Disorders for NBN Gene
(32) MalaCards diseases for NBN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| nijmegen breakage syndrome |
|
|
| aplastic anemia |
|
|
| microcephaly |
|
|
| leukemia, acute lymphoblastic |
|
|
| breast-ovarian cancer, familial 1 |
|
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 mutations 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 variations 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 variations 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
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for NBN Gene
Publications for NBN Gene
- 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 23 41
- Genetic variation in the NBS1, MRE11, RAD50 and BLM genes and susceptibility to non-Hodgkin lymphoma. (PMID: 19917125) Schuetz JM … Brooks-Wilson AR (BMC medical genetics 2009) 3 23 41
- High frequency of BRCA1, but not CHEK2 or NBS1 (NBN), founder mutations in Russian ovarian cancer patients. (PMID: 19338682) Suspitsin EN … Imyanitov EN (Hereditary cancer in clinical practice 2009) 3 23 41
- Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations. (PMID: 19151620) Watanabe T … Ohgaki H (Journal of neuropathology and experimental neurology 2009) 3 23 41
- BARD1 and breast cancer in Poland. (PMID: 17333333) Jakubowska A … Lubiński J (Breast cancer research and treatment 2008) 3 23 41
ExternalLinks
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- UM800029
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- UM800030
- UM800030CF
- UM870029
- UM870030
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Sources for NBN Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
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- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
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- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
- (56) Tocris
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- (58) Novus Biologicals
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- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
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