FANCD2 Gene: Fanconi Anemia Complementation Group D2
A key player in DNA interstrand crosslink repair and Fanconi anemia pathway
Gene Information Card
| Symbol | FANCD2 |
|---|---|
| Full Name | FA complementation group D2 |
| Gene Type | protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 2177 ncbi.nlm.nih.gov/gene/2177 |
| Ensembl ID | ENSG00000144554 |
| UniProt ID | Q9BXW9 |
| OMIM ID | 227646 |
| HGNC ID | 3585 |
| Aliases | FA-D2, FA4, FAD, FANCD |
Description
The FANCD2 gene encodes a protein that is a central component of the Fanconi anemia (FA) pathway, essential for DNA interstrand crosslink (ICL) repair. Upon DNA damage, FANCD2 is monoubiquitinated and localizes to chromatin foci where it coordinates repair processes. Mutations in FANCD2 cause Fanconi anemia complementation group D2, characterized by bone marrow failure, congenital abnormalities, and cancer predisposition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fanconi anemia complementation group D2 | Loss-of-function mutations impair ICL repair, leading to chromosomal instability and bone marrow failure. | ClinVar, OMIM |
| Breast cancer | Altered FANCD2 expression or function may contribute to genomic instability and tumorigenesis. | COSMIC, literature |
| Acute myeloid leukemia | Defective DNA repair in FA patients increases risk of myeloid malignancies. | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 8.2 | Medium |
| Testis | 6.5 | Medium |
| Spleen | 5.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| A549 | 9.8 | Lung carcinoma |
| MCF7 | 7.4 | Breast cancer |
| K562 | 6.2 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1941_1944del | Deletion | Rare | Frameshift, loss of function |
| c.2444G>A | Missense | Rare | p.Arg815Gln, impaired monoubiquitination |
| c.3588+1G>T | Splice site | Rare | Aberrant splicing, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most FANCD2 mutations are loss-of-function, leading to defective ICL repair and FA phenotype.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting protein complex formation.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • protein binding |
| • ubiquitin-protein transferase activity | • nucleus |
| • chromatin | • DNA repair |
| • interstrand cross-link repair | • response to DNA damage stimulus |
Pathways
• Fanconi anemia pathway
• Homologous recombination
• DNA damage response
Protein Summary
FANCD2 is a 1451-amino acid protein that undergoes monoubiquitination at lysine 561, a critical step for its function in DNA repair. It interacts with other FA proteins and BRCA1/BRCA2, facilitating homologous recombination and genome stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FANCD2 Knockout HEK293 Cell Line | EDJ-KQ2218 | Human | 2177 | Details Get a Quote |
| FANCD2OS Knockout HEK293 Cell Line | EDJ-KQ7533 | Human | 115795 | Details Get a Quote |
| FANCD2 Knockout A-549 Cell Line | EDJ-KQ22484 | Human | 2177 | Details Get a Quote |
| FANCD2 Knockout HCT 116 Cell Line | EDJ-KQ22485 | Human | 2177 | Details Get a Quote |
| FANCD2 Knockout HeLa Cell Line | EDJ-KQ22486 | Human | 2177 | Details Get a Quote |
| FANCD2OS Knockout HeLa Cell Line | EDJ-KQ57963 | Human | 115795 | Details Get a Quote |
| FANCD2OS Knockout A-549 Cell Line | EDJ-KQ66453 | Human | 115795 | Details Get a Quote |
| FANCD2OS Knockout HCT 116 Cell Line | EDJ-KQ74875 | Human | 115795 | Details Get a Quote |
| FANCD2 (p.V379=) Point Mutation in HAP1 Cell Line | EDC03310 | Human | 2177 | Details Get a Quote |
| FANCD2 (p.S390=) Point Mutation in HAP1 Cell Line | EDC03311 | Human | 2177 | Details Get a Quote |
| FANCD2 (p.T393=) Point Mutation in HAP1 Cell Line | EDC03312 | Human | 2177 | Details Get a Quote |
| FANCD2 (p.N405S) Point Mutation in HAP1 Cell Line | EDC03313 | Human | 2177 | Details Get a Quote |
| FANCD2 (p.Y425=) Point Mutation in HAP1 Cell Line | EDC03314 | Human | 2177 | Details Get a Quote |
| FANCD2 (p.D1350N) Point Mutation in HAP1 Cell Line | EDC03316 | Human | 2177 | Details Get a Quote |
| FANCD2 (c.1413+3A>G )Point Mutation in HAP1 Cell Line | EDC03315 | Human | 2177 | Details Get a Quote |
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