Property Summary

NCBI Gene PubMed Count 24
Grant Count 35
R01 Count 22
Funding $3,739,153.68
PubMed Score 203.93
PubTator Score 6142.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.191 0.018

Gene RIF (10)

PMID Text
21910217 Loss-of-function FANCB mutations result in a recognizable, multiple malformation phenotype in hemizygous males for which we propose clinical criteria to aid diagnosis.
20465790 Elevated serum FA-2 was associated with bony metastases from breast cancer.
20332657 Inactivation of FancB may play a role in the pathogenesis of sporadic HNSCC.
19536649 Observational study of gene-disease association. (HuGE Navigator)
18302019 Our results rule out a major contribution of FANCB to hereditary breast cancer.
18302019 Observational study of genotype prevalence. (HuGE Navigator)
17903171 Mus81 and FANCB have different roles in repair of DNA damage during replication in human cells
16679491 Mutations in FANCB are a cause of X linked VACTERL-H syndrome.
15611632 summary of recent advances in the Fanconi anemia-BRCA network with emphasis on the new discovery of FAAP95 as the true FANCB gene [review]
15502827 the protein defective in individuals with Fanconi anemia belonging to complementation group B is an essential component of the nuclear protein 'core complex' responsible for monoubiquitination of FANCD2

AA Sequence

MTSKQAMSSNEQERLLCYNGEVLVFQLSKGNFADKEPTKTPILHVRRMVFDRGTKVFVQKSTGFFTIKEE      1 - 70
NSHLKIMCCNCVSDFRTGINLPYIVIEKNKKNNVFEYFLLILHSTNKFEMRLSFKLGYEMKDGLRVLNGP     71 - 140
LILWRHVKAFFFISSQTGKVVSVSGNFSSIQWAGEIENLGMVLLGLKECCLSEEECTQEPSKSDYAIWNT    141 - 210
KFCVYSLESQEVLSDIYIIPPAYSSVVTYVHICATEIIKNQLRISLIALTRKNQLISFQNGTPKNVCQLP    211 - 280
FGDPCAVQLMDSGGGNLFFVVSFISNNACAVWKESFQVAAKWEKLSLVLIDDFIGSGTEQVLLLFKDSLN    281 - 350
SDCLTSFKITDLGKINYSSEPSDCNEDDLFEDKQENRYLVVPPLETGLKVCFSSFRELRQHLLLKEKIIS    351 - 420
KSYKALINLVQGKDDNTSSAEEKECLVPLCGEEENSVHILDEKLSDNFQDSEQLVEKIWYRVIDDSLVVG    421 - 490
VKTTSSLKLSLNDVTLSLLMDQAHDSRFRLLKCQNRVIKLSTNPFPAPYLMPCEIGLEAKRVTLTPDSKK    491 - 560
EESFVCEHPSKKECVQIITAVTSLSPLLTFSKFCCTVLLQIMERESGNCPKDRYVVCGRVFLSLEDLSTG    561 - 630
KYLLTFPKKKPIEHMEDLFALLAAFHKSCFQITSPGYALNSMKVWLLEHMKCEIIKEFPEVYFCERPGSF    631 - 700
YGTLFTWKQRTPFEGILIIYSRNQTVMFQCLHNLIRILPINCFLKNLKSGSENFLIDNMAFTLEKELVTL    701 - 770
SSLSSAIAKHESNFMQRCEVSKGKSSVVAAALSDRRENIHPYRKELQREKKKMLQTNLKVSGALYREITL    771 - 840
KVAEVQLKSDFAAQKLSNL                                                       841 - 859
//

Text Mined References (24)

PMID Year Title
23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21948523 2011 Post-transcriptional exon shuffling events in humans can be evolutionarily conserved and abundant.
21910217 2011 X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
20465790 2010 Bony metastases from breast cancer - a study of foetal antigen 2 as a blood tumour marker.
20347428 2010 A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.
20332657 2010 Inactivation of the tumor suppressor genes causing the hereditary syndromes predisposing to head and neck cancer via promoter hypermethylation in sporadic head and neck cancers.
19536649 2009 The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features.
18302019 2009 Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
17903171 2007 Human Mus81 and FANCB independently contribute to repair of DNA damage during replication.
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