FANCA
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 A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| FA complementation group A | MIM:607139 | Ensembl:ENSG00000187741 | HGNC:HGNC:3582 | PA27995 | 16q24.3 |
GO terms in FANCA
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IPI | GO:0005515 | protein binding |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0043240 | Fanconi anaemia nuclear complex |
| BP | TAS | GO:0006281 | DNA repair |
| BP | IEA | GO:0007140 | male meiotic nuclear division |
| BP | IEA | GO:0008584 | male gonad development |
| BP | IEA | GO:0008585 | female gonad development |
| BP | TAS | GO:0036297 | interstrand cross-link repair |
| BP | IEA | GO:0042127 | regulation of cell proliferation |
| BP | IEA | GO:0045589 | regulation of regulatory T cell differentiation |
| BP | IEA | GO:0050727 | regulation of inflammatory response |
| BP | IEA | GO:0051090 | regulation of DNA-binding transcription factor activity |
| BP | TAS | GO:0065003 | protein-containing complex assembly |
| BP | IEA | GO:2000348 | regulation of CD40 signaling pathway |
Gene expression in normal tissue: FANCA
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FANCA
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-6783310 | Fanconi Anemia Pathway |
| reactome | R-HSA-73894 | DNA Repair |
| biocarta | atrbrcapathway | role of brca1 brca2 and atr in cancer susceptibility |
| biocarta | bard1pathway | brca1 dependent ub ligase activity |
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| pid | bard1pathway | BARD1 signaling events |
| pid | fanconi_pathway | Fanconi anemia pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD77 | Itraconazole | 3 |
| iGMDRD6 | AM-580 | 2 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD103 | SN-38 | 2 |
| iGMDRD137 | Indisulam | 5 |
| iGMDRD121 | GMX1778 | 2 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD532 | Olaparib | 2 |
| iGMDRD560 | MK-2206 | 3 |
| iGMDRD424 | Tamatinib | 1 |
| iGMDRD154 | NSC23766 | 2 |
| iGMDRD901 | ELCPK | 3 |
| iGMDRD123 | Isoevodiamine | 2 |
| iGMDRD294 | Batimastat | 4 |
| iGMDRD171 | Pemetrexed | 2 |
| iGMDRD255 | SB225002 | 1 |
| iGMDRD802 | 4-methylfasudil | 2 |
| iGMDRD356 | PNU-74654 | 1 |
| iGMDRD524 | ISX-9 | 2 |
| iGMDRD369 | TGX-115 | 2 |
| iGMDRD64 | Parbendazole | 5 |
| iGMDRD562 | Navitoclax | 1 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD887 | Compound 23 citrate | 3 |
| iGMDRD399 | Selumetinib | 2 |
| iGMDRD971 | PARP inhibitor | 1 |
| iGMDRD579 | PF750 | 3 |
| iGMDRD394 | BX-795 | 3 |
| iGMDRD280 | CYTOCHALASIN B | 2 |
| iGMDRD61 | Kinetin riboside | 3 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD446 | LY 2183240 | 3 |
| iGMDRD201 | SKI II | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FANCA
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.