FANCG
Fanconi anemia complementation group G
Gene Information Card
| Symbol | FANCG |
|---|---|
| Full Name | FA complementation group G |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 2189 ncbi.nlm.nih.gov/gene/2189 |
| Ensembl ID | ENSG00000100281 |
| UniProt ID | O15287 |
| OMIM ID | 602956 |
| HGNC ID | 3588 |
| Aliases | XRCC9, FAG |
Description
FANCG encodes a protein that is a component of the Fanconi anemia (FA) core complex, which is essential for the repair of DNA interstrand crosslinks. The protein interacts with other FA proteins and is required for the monoubiquitination of FANCD2. Mutations in FANCG cause Fanconi anemia complementation group G, a disorder characterized by bone marrow failure, congenital abnormalities, and predisposition to acute myeloid leukemia and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group G | Loss of function of FANCG disrupts the FA core complex, impairing DNA interstrand crosslink repair and leading to genomic instability. | OMIM #614082, ClinVar |
| Acute myeloid leukemia (AML) | Biallelic FANCG mutations increase susceptibility to AML due to defective DNA repair and accumulation of chromosomal aberrations. | COSMIC, ClinVar |
| Breast cancer | Heterozygous FANCG variants may confer moderate risk for breast cancer, possibly through haploinsufficiency in DNA repair. | ClinVar, literature review |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Spleen | 5.1 | Low |
| Lymph node | 4.8 | Low |
| Ovary | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.1 | Cervical cancer cell line |
| K562 | 6.8 | Chronic myeloid leukemia cell line |
| HEK293 | 5.4 | Embryonic kidney cell line |
| HCT116 | 4.9 | Colorectal carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.307+1G>A | Splice donor | ~2% of FA-G cases | Loss of function; exon skipping |
| c.1066C>T (p.Gln356*) | Nonsense | ~1% of FA-G cases | Premature stop; protein truncation |
| c.1480_1481del (p.Leu494Valfs*13) | Frameshift deletion | ~3% of FA-G cases | Frameshift; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most FANCG mutations are loss-of-function, leading to defective DNA crosslink repair and Fanconi anemia phenotype.
Gain of Function (GOF)
No gain-of-function mutations reported for FANCG.
Dominant Negative (DN)
No dominant-negative mutations reported; disease is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • DNA repair (GO:0006281) | • interstrand cross-link repair (GO:0036297) |
| • Fanconi anaemia nuclear complex (GO:0043240) |
Pathways
• Fanconi anemia pathway (Reactome R-HSA-6783310)
• DNA interstrand crosslink repair (KEGG hsa03460)
Protein Summary
FANCG is a 622-amino acid protein (UniProt O15287) that localizes to the nucleus and is a core component of the Fanconi anemia complex. It contains multiple tetratricopeptide repeat (TPR) domains that mediate protein-protein interactions. The protein is essential for the monoubiquitination of FANCD2 and FANCI, a key step in the activation of the FA pathway for DNA crosslink repair.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FANCG Knockout HEK293 Cell Line | EDJ-KQ3404 | Human | 2189 | Details Get a Quote |
| FANCG Knockout A-549 Cell Line | EDJ-KQ25106 | Human | 2189 | Details Get a Quote |
| FANCG Knockout HCT 116 Cell Line | EDJ-KQ25107 | Human | 2189 | Details Get a Quote |
| FANCG Knockout HeLa Cell Line | EDJ-KQ25108 | Human | 2189 | Details Get a Quote |
| FANCG (c.1636+7A>G )Point Mutation in HAP1 Cell Line | EDC03477 | Human | 2189 | Details Get a Quote |
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