NBN (Gene)

Organism:

Homo sapiens

Synonyms:AT-V1, AT-V2, ATV, ENTREZ:4683, HGNC:7652, MIM:602667, NBN, NBS, NBS1, NM_001024688, NM_002485, NP_001019859, NP_002476, P95, XM_011517045, XM_011517046, XM_017013460, XM_017013462, XM_024447163, XM_024447164, XM_024447165, XP_011515347, XP_011515348, XP_016868949, XP_016868951, XP_024302931, XP_024302932, XP_024302933, nibrin

Omim:OMIM:602667

Id:ENSG00000104320

Hgnc:HGNC:7652

Entrez:4683

Ensembl:ENSG00000104320

Description:nibrin

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]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View NBN's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with NBN.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using NBN.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for NBN.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with NBN.

Results found

Linked to

	Label	Description
	GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE109285 3 V 2 GLUCAGON MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE163862 2 V 3 CISPLATIN MOUSE DN Gene Set (Entity type)	A Gene Set from LINCS
	GSE192750 adipose overexpression Grunt Fin PNMR OE 1 v 9 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE74251 decitabine MCF-7 0 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE67266 7 V 3 ETOPOSIDE MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE230329 0 V 3 DEXTRAN MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE95688 7 V 2 GLUTATHIONE MOUSE UP Gene Set (Entity type)	A Gene Set from LINCS
	GSE119369 H10 inhibition 3 v 7 human dn Gene Set (Entity type)	A Gene Set from LINCS
	T62-Spleen Consensus Gene Set (Entity type)	A Gene Set from MoTrPAC

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE109285 3 V 2 GLUCAGON MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE163862 2 V 3 CISPLATIN MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

GSE192750 adipose overexpression Grunt Fin PNMR OE 1 v 9 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE74251 decitabine MCF-7 0 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE67266 7 V 3 ETOPOSIDE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE230329 0 V 3 DEXTRAN MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE95688 7 V 2 GLUTATHIONE MOUSE UP

Gene Set (Entity type)

A Gene Set from LINCS

GSE119369 H10 inhibition 3 v 7 human dn

Gene Set (Entity type)

A Gene Set from LINCS

T62-Spleen Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

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Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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