Property Summary

NCBI Gene PubMed Count 50
Grant Count 40
R01 Count 32
Funding $3,033,520.04
PubMed Score 86.11
PubTator Score 74.62

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
osteosarcoma 2.093 0.000
Breast cancer -1.300 0.000

 GO Function (1)

 GO Process (1)

 Compartment GO Term (0)

Gene RIF (27)

PMID Text
25810396 The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival.
24608212 A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family
23083484 Authors conclude that a novel p.Asp419Tyr alteration in SH3BP2 to be a cherubism-causing mutation in a Turkish family.
22820184 These results demonstrate that PARP1 regulates expression of SH3BP2.
22795151 In the first family, a missense mutation Arg415Gln was found in exon 9 of SH3BP2 in all affected individuals. The unaffected individuals did not have the mutation. In the second family, a missense mutation Pro418Thr was identified in exon 9 of the SH3BP2
21794028 P416R mutation of 3BP2 causes the gain of function in B cells by increasing the interaction with specific signaling molecules.
21680150 if a primary genetic defect is the cause for CGCG it is either located in SH3BP2 gene exons not yet related to cherubism or in a different gene.
20872577 over expression of SH3BP2 in RAW 264.7 cells potentiates sRANKL-stimulated phosphorylation of PLCgamma1 and PLCgamma2.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20237496 Observational study of gene-disease association. (HuGE Navigator)
More...

AA Sequence

MAAEEMHWPVPMKAIGAQNLLTMPGGVAKAGYLHKKGGTQLQLLKWPLRFVIIHKRCVYYFKSSTSASPQ      1 - 70
GAFSLSGYNRVMRAAEETTSNNVFPFKIIHISKKHRTWFFSASSEEERKSWMALLRREIGHFHEKKDLPL     71 - 140
DTSDSSSDTDSFYGAVERPVDISLSPYPTDNEDYEHDDEDDSYLEPDSPEPGRLEDALMHPPAYPPPPVP    141 - 210
TPRKPAFSDMPRAHSFTSKGPGPLLPPPPPKHGLPDVGLAAEDSKRDPLCPRRAEPCPRVPATPRRMSDP    211 - 280
PLSTMPTAPGLRKPPCFRESASPSPEPWTPGHGACSTSSAAIMATATSRNCDKLKSFHLSPRGPPTSEPP    281 - 350
PVPANKPKFLKIAEEDPPREAAMPGLFVPPVAPRPPALKLPVPEAMARPAVLPRPEKPQLPHLQRSPPDG    351 - 420
QSFRSFSFEKPRQPSQADTGGDDSDEDYEKVPLPNSVFVNTTESCEVERLFKATSPRGEPQDGLYCIRNS    421 - 490
STKSGKVLVVWDETSNKVRNYRIFEKDSKFYLEGEVLFVSVGSMVEHYHTHVLPSHQSLLLRHPYGYTGP    491 - 560
R//

Text Mined References (54)

PMID Year Title
25810396 2015 The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival.
24728074 2014 Enhanced prediction of Src homology 2 (SH2) domain binding potentials using a fluorescence polarization-derived c-Met, c-Kit, ErbB, and androgen receptor interactome.
24608212 2014 A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23083484 2012 A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family.
22820184 2012 Cloning and characterization of the human SH3BP2 promoter.
22795151 Mutations of the SH3BP2 gene in 2 families of cherubism.
22153077 2011 Structural basis and sequence rules for substrate recognition by Tankyrase explain the basis for cherubism disease.
22153076 2011 Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism.
More...