Property Summary

NCBI Gene PubMed Count 148
PubMed Score 362.37
PubTator Score 284.39

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
non-small cell lung cancer 2798 1.96409696344513E-13
psoriasis 6685 5.58663900588811E-8
group 3 medulloblastoma 2254 1.65789883193772E-7
glioblastoma 5572 1.98092500145148E-7
medulloblastoma, large-cell 6234 5.53290388504677E-6
Atopic dermatitis 944 1.27968415064445E-5
atypical teratoid/rhabdoid tumor 1095 1.61338517134775E-5
pediatric high grade glioma 2712 4.22130728232115E-5
osteosarcoma 7933 1.22047773187678E-4
primitive neuroectodermal tumor 3031 4.3165665590186E-4
adrenocortical carcinoma 1427 5.38450114778759E-4
invasive ductal carcinoma 2950 6.25117104603897E-4
intraductal papillary-mucinous neoplasm (IPMN) 3289 7.96947778162459E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 9.52291220219163E-4
ductal carcinoma in situ 1745 0.00140683788137821
ovarian cancer 8492 0.00335263814747209
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0107651764382919
Endometriosis 535 0.0203655558061665
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Fanconi's anemia 50 0.0 4.0

Expression

Synonym

Accession Q9BXW9 Q2LA86 Q69YP9 Q6PJN7 Q9BQ06 Q9H9T9 Protein FACD2
Symbols FA4
FAD
FACD
FAD2
FA-D2
FANCD

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid
Rat OMA Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG Inparanoid
C. elegans OMA Inparanoid
Fruitfly EggNOG Inparanoid

 GO Function (1)

Gene RIF (117)

PMID Text
26765540 while dispensable for cell survival, FANCD2 selectively safeguards chromosomal stability after UV-triggered replication stress
26584049 Using human and murine cells defective in FANCD2 or FANCA and primary bone marrow cells derived from FANCD2 deficient mice, we show that the FA pathway removes R loops and that many DNA breaks accumulated in FA cells are R loop-dependent.
26430909 These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway.
26385482 Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin.
26336824 FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation.
26083937 FANCD2 is a key factor in genome stability maintenance in response to high-LET radiation
25891850 Celastrol is a FANCD2 inhibitor that could interfere with the monoubiquitination and protein stability of FANCD2.
25801034 describe a mechanism of interstrand crosslink (ICL) sensing and propose that UHRF1 is a critical factor that binds to ICLs. In turn, this binding is necessary for the subsequent recruitment of FANCD2, which allows the DNA repair process to initiate
25736055 FANCD2 plays a role in gemcitabine drug resistance in biliary tract cancer.
25659033 FANCJ and BRCA2 share FANCD2's role in replication fork restart.
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AA Sequence

MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEENDSIFVKLLKISGIILKTGESQNQLAV      1 - 70
DQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYIEDEDSFRNCLLSCERLQDEEASMGASYSKSLIKLLL     71 - 140
GIDILQPAIIKTLFEKLPEYFFENKNSDEINIPRLIVSQLKWLDRVVDGKDLTTKIMQLISIAPENLQHD    141 - 210
IITSLPEILGDSQHADVGKELSDLLIENTSLTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPV    211 - 280
IIKFILHSVTAMDTLEVISELREKLDLQHCVLPSRLQASQVKLKSKGRASSSGNQESSGQSCIILLFDVI    281 - 350
KSAIRYEKTISEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYIDRVLRNKIRSGCIQEQLLQST    351 - 420
FSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLYKYAFKFFDTYCQQEVVGALVTHICSGNEAEVD    421 - 490
TALDVLLELVVLNPSAMMMNAVFVKGILDYLDNISPQQIRKLFYVLSTLAFSKQNEASSHIQDDMHLVIR    491 - 560
KQLSSTVFKYKLIGIIGAVTMAGIMAADRSESPSLTQERANLSDEQCTQVTSLLQLVHSCSEQSPQASAL    561 - 630
YYDEFANLIQHEKLDPKALEWVGHTICNDFQDAFVVDSCVVPEGDFPFPVKALYGLEEYDTQDGIAINLL    631 - 700
PLLFSQDFAKDGGPVTSQESGQKLVSPLCLAPYFRLLRLCVERQHNGNLEEIDGLLDCPIFLTDLEPGEK    701 - 770
LESMSAKERSFMCSLIFLTLNWFREIVNAFCQETSPEMKGKVLTRLKHIVELQIILEKYLAVTPDYVPPL    771 - 840
GNFDVETLDITPHTVTAISAKIRKKGKIERKQKTDGSKTSSSDTLSEEKNSECDPTPSHRGQLNKEFTGK    841 - 910
EEKTSLLLHNSHAFFRELDIEVFSILHCGLVTKFILDTEMHTEATEVVQLGPPELLFLLEDLSQKLESML    911 - 980
TPPIARRVPFLKNKGSRNIGFSHLQQRSAQEIVHCVFQLLTPMCNHLENIHNYFQCLAAENHGVVDGPGV    981 - 1050
KVQEYHIMSSCYQRLLQIFHGLFAWSGFSQPENQNLLYSALHVLSSRLKQGEHSQPLEELLSQSVHYLQN   1051 - 1120
FHQSIPSFQCALYLIRLLMVILEKSTASAQNKEKIASLARQFLCRVWPSGDKEKSNISNDQLHALLCIYL   1121 - 1190
EHTESILKAIEEIAGVGVPELINSPKDASSSTFPTLTRHTFVVFFRVMMAELEKTVKKIEPGTAADSQQI   1191 - 1260
HEEKLLYWNMAVRDFSILINLIKVFDSHPVLHVCLKYGRLFVEAFLKQCMPLLDFSFRKHREDVLSLLET   1261 - 1330
FQLDTRLLHHLCGHSKIHQDTRLTQHVPLLKKTLELLVCRVKAMLTLNNCREAFWLGNLKNRDLQGEEIK   1331 - 1400
SQNSQESTADESEDDMSSQASKSKATEDGEEDEVSAGEKEQDSDESYDDSD                      1401 - 1451
//

Text Mined References (160)

PMID Year Title
26765540 2016 Chromosomal Integrity after UV Irradiation Requires FANCD2-Mediated Repair of Double Strand Breaks.
26584049 2015 The Fanconi Anemia Pathway Protects Genome Integrity from R-loops.
26430909 2015 FANCI Regulates Recruitment of the FA Core Complex at Sites of DNA Damage Independently of FANCD2.
26385482 2015 RNA interferences targeting the Fanconi anemia/BRCA pathway upstream genes reverse cisplatin resistance in drug-resistant lung cancer cells.
26336824 2015 FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation.
26323318 2015 NUCKS1 is a novel RAD51AP1 paralog important for homologous recombination and genome stability.
26083937 2015 FANCD2 influences replication fork processes and genome stability in response to clustered DSBs.
25891850 2015 Celastrol induces proteasomal degradation of FANCD2 to sensitize lung cancer cells to DNA crosslinking agents.
25801034 2015 UHRF1 is a sensor for DNA interstrand crosslinks and recruits FANCD2 to initiate the Fanconi anemia pathway.
25736055 2015 BRCA/Fanconi anemia pathway implicates chemoresistance to gemcitabine in biliary tract cancer.
More...