FANCD2 Chromosome 3
FA complementation group D2
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What This Gene Does
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
"FA complementation groups|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
3p25.3
Ensembl
ENSG00000144554
Associated Conditions (23)
Fanconi anemia
FANCD2-related disorder
Fanconi anemia complementation group D2
Ovarian cancer
Inborn genetic diseases
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome
Ovarian serous cystadenocarcinoma
Fanconi anemia complementation group A
Papillary renal cell carcinoma type 1
Lung cancer
Hepatoblastoma
Uterine corpus endometrial carcinoma
Familial cancer of breast
Malignant tumor of esophagus
Colon adenocarcinoma
Neoplasm
Lymphoma
Monogenic short statue
+3 more conditions
Key Variants
RS116736407
Conflicting classifications of pathogenicity
Fanconi anemia, FANCD2-related disorder, Fanconi anemia
Health Risk
RS1168183069
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia
Health Risk
RS1352402588
Conflicting classifications of pathogenicity
Fanconi anemia, Ovarian cancer, Fanconi anemia complementation group D2
Health Risk
RS1365970060
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia
Health Risk
RS138189144
Conflicting classifications of pathogenicity
Fanconi anemia, FANCD2-related disorder, Fanconi anemia
Health Risk
RS138398760
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, Inborn genetic diseases
Health Risk
RS1398046806
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, Ovarian cancer
Health Risk
RS141141752
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia
Health Risk
RS1412513898
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia
Health Risk
RS141824395
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, FANCD2-related disorder
Health Risk
RS143936557
Conflicting classifications of pathogenicity
Fanconi anemia, FANCD2-related disorder, Fanconi anemia
Health Risk
RS144332316
Conflicting classifications of pathogenicity
Fanconi anemia, Fanconi anemia complementation group D2, Inborn genetic diseases
Health Risk
All Variants (316)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS745930696 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS747604554 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia |
| RS748180733 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, FANCD2-related disorder, Fanconi anemia |
| RS755350165 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS755464133 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS757567225 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia |
| RS762724830 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia |
| RS763733996 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia |
| RS770686014 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS770835633 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS774707377 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS775517107 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia |
| RS776906387 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS779350241 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |
| RS943009372 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia, Fanconi anemia complementation group D2, Fanconi anemia |
| RS962867926 | Health Risk | Pathogenic/Likely pathogenic | Fanconi anemia complementation group D2, Fanconi anemia, Fanconi anemia complementation group D2 |