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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 involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
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.
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 |
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 | -- |
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 | -- |
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: |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nijmegen breakage syndrome |
|
|
aplastic anemia |
|
|
microcephaly |
|
|
leukemia, acute lymphoblastic |
|
|
breast-ovarian cancer, familial 1 |
|