NBN

GENE INFORMATION

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Gene name

NBN (HGNC Symbol)

Synonyms

AT-V1, AT-V2, ATV, NBS, NBS1

Description

Nibrin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

8

Cytoband

q21.3

Chromosome location (bp)

89933336 - 90003228

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000104320 (version 78.38)

Entrez gene

4683

UniProt

O60934 (UniProt - Evidence at protein level)

neXtProt

NX_O60934

Antibodypedia

NBN antibodies
 

PROTEIN VIEW

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NBN-001
 
NBN-003
 
NBN-010
 
NBN-011
 
NBN-013
 
NBN-014
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NBN-001 ENSP00000265433
ENST00000265433
O60934
Show all »
Show » Show » 754 85 No 0
NBN-003 ENSP00000386924
ENST00000409330
O60934
Show all »
Show » Show » 672 76 No 0
NBN-010 ENSP00000430983
ENST00000519426
E5RGU1
Show all »
Show » Show » 159 17.4 No 0
NBN-011 ENSP00000428717
ENST00000517772
E5RGR7
Show all »
Show » 165 18.2 No 0
NBN-013 ENSP00000429971
ENST00000517337
E5RGN7
Show all »
Show » 92 9.9 No 0
NBN-014 ENSP00000484487
ENST00000613033
Show » 124 14.5 No 0