NBN

GENERAL INFORMATION

? »

Gene name

NBN

Gene description

Nibrin

Protein class

Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous nuclear expression.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA001429 , CAB003836
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Cervix, uterine



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

? »

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 BROWSER

? »
 
 
 
ENST00000265433
 
ENST00000409330
 
ENST00000517337
 
ENST00000517772
 
ENST00000519426
 
ENST00000613033
 
 
 
 


PROTEIN INFORMATION

? »

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