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]
Transcription factors with Perturb-seq knockdown data for FANCD2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = FANCD2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of FANCD2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr3:9,727,013–9,727,518 | 299.2 kb | Distal (>10kb) Multiome | 264 | |
| chr3:9,730,724–9,732,470 | 295.1 kb | Distal (>10kb) Multiome | 934 | |
| chr3:9,749,252–9,750,525 | 276.5 kb | Distal (>10kb) Multiome | 873 | |
| chr3:9,769,503–9,770,124 | 256.5 kb | Distal (>10kb) Multiome | 504 | |
| chr3:9,792,176–9,793,536 | 233.6 kb | Distal (>10kb) Multiome | 915 | |
| chr3:9,809,609–9,810,744 | 216.3 kb | Distal (>10kb) Multiome | 437 | |
| chr3:9,843,116–9,844,397 | 182.4 kb | Distal (>10kb) Multiome | 787 | |
| chr3:9,862,465–9,863,231 | 163.6 kb | Distal (>10kb) Multiome | 581 | |
| chr3:9,890,247–9,891,058 | 135.8 kb | Distal (>10kb) Multiome | 969 | |
| chr3:9,902,504–9,903,128 | 123.6 kb | Distal (>10kb) Multiome | 396 | |
| chr3:9,914,983–9,916,160 | 111.2 kb | Distal (>10kb) Multiome | 668 | |
| chr3:9,916,644–9,917,412 | 109.3 kb | Distal (>10kb) Multiome | 519 | |
| chr3:9,932,470–9,934,327 | 93.6 kb | Distal (>10kb) Multiome | 1035 | |
| chr3:9,946,152–9,947,739 | 79.8 kb | Distal (>10kb) Multiome | 898 | |
| chr3:9,951,898–9,952,503 | 74.1 kb | Distal (>10kb) Multiome | 484 | |
| chr3:9,986,547–9,987,409 | 39.5 kb | Distal (>10kb) Multiome | 907 | |
| chr3:10,008,678–10,009,458 | 17.3 kb | Distal (>10kb) Multiome | 240 | |
| chr3:10,010,580–10,011,700 | 15.2 kb | Distal (>10kb) Multiome | 540 | |
| chr3:10,025,904–10,026,762 | 50 bp | At TSS Multiome | 871 | |
| chr3:10,115,394–10,116,145 | 89.2 kb | Distal (>10kb) Multiome | 809 | |
| chr3:10,141,441–10,142,425 | 115.4 kb | Distal (>10kb) Multiome | 894 | |
| chr3:10,164,557–10,165,625 | 138.5 kb | Distal (>10kb) Multiome | 718 | |
| chr3:10,226,242–10,226,711 | 200.1 kb | Distal (>10kb) Multiome | 88 | |
| chr3:10,234,612–10,235,203 | 208.6 kb | Distal (>10kb) Multiome | 122 | |
| chr3:10,248,095–10,249,643 | 222.0 kb | Distal (>10kb) Multiome | 892 | |
| chr3:10,263,882–10,264,353 | 237.7 kb | Distal (>10kb) Multiome | 139 | |
| chr3:10,316,093–10,316,808 | 290.1 kb | Distal (>10kb) Multiome | 50 | |
| chr3:10,320,481–10,321,504 | 294.7 kb | Distal (>10kb) Multiome | 955 |
Genomic view of the FANCD2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.