Property Summary

NCBI Gene PubMed Count 18
Grant Count 39
R01 Count 29
Funding $5,203,799.63
PubMed Score 318.41
PubTator Score 143.68

Knowledge Summary

Patent

No data available

Expression

Gene RIF (6)

PMID Text
24654948 We report a novel mutation (p.G112E) in the BFSP2 gene, underscoring the physiological importance of the beaded filament protein and supporting its role in human cataract formation.
21836522 Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively.
18958306 This is the first reported case of a congenital lamellar cataract phenotype associated with the mutation of Arg339His (P.R339H) in BFSP2.
17982427 Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation.
17200662 Progressive isolated sutural cataract associated with deletion mutation of BFSP2 gene in Chinese pedigree. Physiological importance of beaded filament protein. Role of BFSP2 in human cataract formation.
15570218 The Y-sutural opacity in the lens might be the typical and earliest sign for cataract caused by the BFSP2 mutation. In addition, a myopia susceptibility locus in this region, which might also be associated with the mutation in BFSP2.

AA Sequence

MSERRVVVDLPTSASSSMPLQRRRASFRGPRSSSSLESPPASRTNAMSGLVRAPGVYVGTAPSGCIGGLG      1 - 70
ARVTRRALGISSVFLQGLRSSGLATVPAPGLERDHGAVEDLGGCLVEYMAKVHALEQVSQELETQLRMHL     71 - 140
ESKATRSGNWGALRASWASSCQQVGEAVLENARLMLQTETIQAGADDFKERYENEQPFRKAAEEEINSLY    141 - 210
KVIDEANLTKMDLESQIESLKEELGSLSRNYEEDVKLLHKQLAGCELEQMDAPIGTGLDDILETIRIQWE    211 - 280
RDVEKNRVEAGALLQAKQQAEVAHMSQTQEEKLAAALRVELHNTSCQVQSLQAETESLRALKRGLENTLH    281 - 350
DAKHWHDMELQNLGAVVGRLEAELREIRAEAEQQQQERAHLLARKCQLQKDVASYHALLDREESG         351 - 415
//

Text Mined References (18)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
24654948 2014 A novel p.G112E mutation in BFSP2 associated with autosomal dominant pulverulent cataract with sutural opacities.
21836522 2011 Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations.
18958306 2008 A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17982427 2007 The E233del mutation in BFSP2 causes a progressive autosomal dominant congenital cataract in a Chinese family.
17200662 2006 Progressive sutural cataract associated with a BFSP2 mutation in a Chinese family.
15570218 2004 Clinical description and genome wide linkage study of Y-sutural cataract and myopia in a Chinese family.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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