InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FANCG

Summary

InnateDB Protein

IDBP-61627.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

FANCG

Protein Name

Fanconi anemia, complementation group G

Synonyms

FAG; XRCC9;

Species

Homo sapiens

Ensembl Protein

ENSP00000367910

InnateDB Gene

IDBG-281538 (FANCG)

Protein Structure

UniProt Annotation

Function

DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.

Subcellular Localization

Nucleus {ECO:0000269PubMed:18550849}. Cytoplasm {ECO:0000269PubMed:18550849}. Note=The major form is nuclear. The minor form is cytoplasmic.

Disease Associations

Fanconi anemia complementation group G (FANCG) [MIM:614082]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269PubMed:11093276, ECO:0000269PubMed:18550849}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in testis and thymus. Found in lymphoblasts.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 66 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	66 [view]
Protein-Protein	64 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003684	damaged DNA binding
GO:0004871	signal transducer activity
GO:0005515	protein binding

Biological Process

GO:0000075	cell cycle checkpoint
GO:0000160	phosphorelay signal transduction system
GO:0001541	ovarian follicle development
GO:0006281	DNA repair
GO:0006974	cellular response to DNA damage stimulus
GO:0007005	mitochondrion organization
GO:0007286	spermatid development
GO:0009314	response to radiation