FANCD2
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:613984 Ensembl IDEnsembl:ENSG00000144554 HGNC IDHGNC:HGNC:3585 PHARMGKB IDPA27999 Map Location3p25.3 | |||||
GO terms in FANCD2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| MF | IBA | GO:0070182 | DNA polymerase binding |
| MF | IPI | GO:0070182 | DNA polymerase binding |
| CC | IBA | GO:0000793 | condensed chromosome |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
Gene expression in normal tissue: FANCD2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FANCD2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| biocarta | atrbrcapathway | role of brca1 brca2 and atr in cancer susceptibility |
| biocarta | bard1pathway | brca1 dependent ub ligase activity |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3700989 | Transcriptional Regulation by TP53 |
| reactome | R-HSA-6783310 | Fanconi Anemia Pathway |
| reactome | R-HSA-6796648 | TP53 Regulates Transcription of DNA Repair Genes |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FANCD2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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