FANCG (Fanconi anemia, complementation group G)
2002-06-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
9p13.3
IMAGE
LEGEND
Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
LOCUSID
ALIAS
FAG,XRCC9
FUSION GENES
DNA/RNA
Description
14 exons; 1869 bp open reading frame
Transcription
2.2 and 2.5 kb
Proteins
Description
622 amino acids, 69 kDa; contains a leucine zipper; can be phosphorylated
Expression
weak; testis, thymus, lymphoblasts.
Localisation
predominantly nuclear
Function
part of the FA complex with FANCA, FANCC, FANCE, and FANCF; this complex is only found in the nucleus.
FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear localization signal) - FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus.This FA complex translocates into the nucleus, where FANCE and FANCF are present; FANCE and FANCF join the complex. The FA complex subsequently interacts with FANCD2 by monoubiquitination of FANCD2 during S phase or following DNA damage. Activated (ubiquinated ) FANCD2, downstream in the FA pathway, will then interact with other proteins involved in DNA repair, possibly BRCA1; after DNA repair, FANCD2 return to the non-ubiquinated form.
Homology
no known homology
Mutations
Germinal
wide range of mutations (splice, nonsense, missense)
Implicated in
Entity name
Fanconi anaemia (FA); FANCG is implicated in the FA complementation group G; it represents about 10% of FA cases.
Disease
Fanconi anaemia is a chromosome instability syndrome/cancer prone disease (at risk of leukaemia and squamous cell carcinoma)
Prognosis
Cytogenetics
Spontaneously enhanced chromatid-type aberrations (breaks, gaps, interchanges; increased rate of breaks compared to control, when induced by specific clastogens known as DNA cross-linking agents (e.g. mitomycin C, diepoxybutane).
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11854176 | 2002 | Breaks at telomeres and TRF2-independent end fusions in Fanconi anemia. | Callén E et al |
| 11093276 | 2000 | Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. | Demuth I et al |
| 11110674 | 2000 | Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group. | Faivre L et al |
| 11756225 | 2002 | The FANCG Fanconi anemia protein interacts with CYP2E1: possible role in protection against oxidative DNA damage. | Futaki M et al |
| 11181053 | 2001 | Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment. | Futaki M et al |
| 11239454 | 2001 | Interaction of the Fanconi anemia proteins and BRCA1 in a common pathway. | Garcia-Higuera I et al |
| 11673408 | 2001 | Fanconi anemia and DNA repair. | Grompe M et al |
| 11823446 | 2002 | Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice. | Koomen M et al |
| 10961856 | 2000 | Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity. | Kuang Y et al |
| 9256465 | 1997 | The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells. | Liu N et al |
| 11157805 | 2001 | Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway. | Medhurst AL et al |
| 11438206 | 2001 | Functional analysis of patient-derived mutations in the Fanconi anemia gene, FANCG/XRCC9. | Nakanishi K et al |
| 11297559 | 2001 | Fanconi anemia proteins localize to chromatin and the nuclear matrix in a DNA damage- and cell cycle-regulated manner. | Qiao F et al |
| 10468606 | 1999 | A physical complex of the Fanconi anemia proteins FANCG/XRCC9 and FANCA. | Waisfisz Q et al |
| 11751423 | 2001 | The Chinese hamster FANCG/XRCC9 mutant NM3 fails to express the monoubiquitinated form of the FANCD2 protein, is hypersensitive to a range of DNA damaging agents and exhibits a normal level of spontaneous sister chromatid exchange. | Wilson JB et al |
| 11530803 | 2001 | Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes. | Yamashita T et al |
| 11719385 | 2001 | Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9. | Yang Y et al |
| 9806548 | 1998 | The Fanconi anaemia group G gene FANCG is identical with XRCC9. | de Winter JP et al |
Other Information
Locus ID:
NCBI: 2189
MIM: 602956
HGNC: 3588
Ensembl: ENSG00000221829
Variants:
dbSNP: 2189
ClinVar: 2189
TCGA: ENSG00000221829
COSMIC: FANCG
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000221829 | ENST00000378643 | O15287 |
| ENSG00000221829 | ENST00000378643 | Q53XM5 |
| ENSG00000221829 | ENST00000425676 | F8WC08 |
| ENSG00000221829 | ENST00000448890 | C9JSE3 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34864095 | 2022 | In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis. | 1 |
| 34864095 | 2022 | In silico study of missense variants of FANCA, FANCC and FANCG genes reveals high risk deleterious alleles predisposing to Fanconi anemia pathogenesis. | 1 |
| 32947577 | 2021 | Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes. | 1 |
| 33394227 | 2021 | Severe telomere shortening in Fanconi anemia complementation group L. | 3 |
| 34436527 | 2021 | Frequent internuclear bridging in a Fanconi anemia patient with FANCG mutation. | 0 |
| 32947577 | 2021 | Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes. | 1 |
| 33394227 | 2021 | Severe telomere shortening in Fanconi anemia complementation group L. | 3 |
| 34436527 | 2021 | Frequent internuclear bridging in a Fanconi anemia patient with FANCG mutation. | 0 |
| 32529760 | 2020 | Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. | 4 |
| 32989015 | 2020 | Loss of Mitochondrial Localization of Human FANCG Causes Defective FANCJ Helicase. | 2 |
| 32529760 | 2020 | Endocrine profiling in patients with Fanconi anemia, homozygous for a FANCG founder mutation. | 4 |
| 32989015 | 2020 | Loss of Mitochondrial Localization of Human FANCG Causes Defective FANCJ Helicase. | 2 |
| 29843852 | 2018 | Fanconi anaemia in South Africa: Past, present and future. | 2 |
| 30057198 | 2018 | FANCA Promotes DNA Double-Strand Break Repair by Catalyzing Single-Strand Annealing and Strand Exchange. | 48 |
| 29843852 | 2018 | Fanconi anaemia in South Africa: Past, present and future. | 2 |
Citation
Jean-Loup Huret
FANCG (Fanconi anemia, complementation group G)
Atlas Genet Cytogenet Oncol Haematol. 2002-06-01
Online version: http://atlasgeneticsoncology.org/gene/295/fancg
