FANCM
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 M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:609644 Ensembl IDEnsembl:ENSG00000187790 HGNC IDHGNC:HGNC:23168 PHARMGKB IDPA134943156 Map Location14q21.2 | |||||
Gene Categories:
DNA REPAIRGO terms in FANCM
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0003677 | DNA binding |
| MF | IDA | GO:0003682 | chromatin binding |
| MF | IEA | GO:0004386 | helicase activity |
| MF | IEA | GO:0004518 | nuclease activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
Gene expression in normal tissue: FANCM
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FANCM
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa03460 | Fanconi anemia pathway - Homo sapiens (human) |
| pid | fanconi_pathway | Fanconi anemia pathway |
| reactome | R-HSA-6783310 | Fanconi Anemia Pathway |
| reactome | R-HSA-73894 | DNA Repair |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FANCM
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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