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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameFA complementation group A
OMIM IDMIM:607139
Ensembl IDEnsembl:ENSG00000187741
HGNC IDHGNC:HGNC:3582
PHARMGKB IDPA27995
Map Location16q24.3

GO terms in FANCA


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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
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Gene expression in normal tissue: FANCA

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 52BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 10LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 12BLOOtissue: BLOO cancer: BLOOD model num: 0BLOODtissue: BLOOD cancer: undefined model num: 2PROSTATtissue: PROSTAT cancer: PROSTATE model num: 0PROSTATEtissue: PROSTATE cancer: Prostate Adenocarcinoma (PRAD) model num: 2PROSTATEtissue: PROSTATE cancer: Prostate Cancer model num: 1

Gene-drug pathway distribution

undefined25One carbon pool by folate1Apoptosis regulation1ERK MAPK signaling1Leukocyte transendothelial migration1PI3K/MTOR signaling1DNA replication1Mitosis1Genome integrity1

Pathways in FANCA


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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
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD77 Itraconazole 3
iGMDRD6 AM-580 2
iGMDRD434 BMS-536924 2
iGMDRD103 SN-38 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in FANCA

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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