FANCC
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 C. [provided by RefSeq, Jul 2008].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:613899 Ensembl IDEnsembl:ENSG00000158169 HGNC IDHGNC:HGNC:3584 PHARMGKB IDPA27997 Map Location9q22.32 | |||||
GO terms in FANCC
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| BP | IEA | GO:0002262 | myeloid cell homeostasis |
| BP | TAS | GO:0006281 | DNA repair |
| BP | IBA | GO:0006289 | nucleotide-excision repair |
| BP | IEA | GO:0007281 | germ cell development |
| BP | IEA | GO:0019430 | removal of superoxide radicals |
Gene expression in normal tissue: FANCC
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FANCC
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP3808 | TP53 Regulates Transcription of DNA Repair Genes |
| pid | bard1pathway | BARD1 signaling events |
| pid | fanconi_pathway | Fanconi anemia pathway |
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| biocarta | atrbrcapathway | role of brca1 brca2 and atr in cancer susceptibility |
| biocarta | bard1pathway | brca1 dependent ub ligase activity |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FANCC
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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