SH3BP2 Antibody

1. All members featured a heterozygous missense c.1244G>C; p.Arg415Pro SH3BP2 mutation PMID: 28721660
2. The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival. PMID: 25810396
3. A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family PMID: 24608212
4. Authors conclude that a novel p.Asp419Tyr alteration in SH3BP2 to be a cherubism-causing mutation in a Turkish family. PMID: 23083484
5. 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 PMID: 22795151
6. These results demonstrate that PARP1 regulates expression of SH3BP2. PMID: 22820184
7. P416R mutation of 3BP2 causes the gain of function in B cells by increasing the interaction with specific signaling molecules. PMID: 21794028
8. 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. PMID: 21680150
9. The SH-3BP-2 mutation may participate in the differentiation and maturation of osteoclast-like cells in the lesion of cherubism. PMID: 19576004
10. over expression of SH3BP2 in RAW 264.7 cells potentiates sRANKL-stimulated phosphorylation of PLCgamma1 and PLCgamma2. PMID: 20872577
11. No SH3BP2 gene mutation was found in PGCL. PMID: 20002873
12. Regulation of FcepsilonRI-mediated degranulation by an adaptor protein 3BP2 in rat basophilic leukemia RBL-2H3 cells. PMID: 12200378
13. 3BP2 may regulate b cell receptor-mediated gene activation through Vav proteins. PMID: 15345594
14. Adaptor protein SH3BP2 regulates transcription factors through its tyrosine phosphorylation and SH2 domain. PMID: 15751964
15. CD244-3BP2 association regulates cytolytic function but not IFN-gamma release PMID: 16177062
16. no mutations...in giant cell granuloma PMID: 16713042
17. How SH3BP2 affects leukocyte signaling and influences cherubism PMID: 16802602
18. a novel A1517G missense mutation at the SH3BP2 gene in a Chinese family with multiple affected individuals with cherubism was identified PMID: 17147794
19. Mutated in a rare human disease involved in cranial-facial development called cherubism, suggesting a role for 3BP2 in regulating osteoclast and hematopoietic cell function. [REVIEW] PMID: 17156730
20. unexpected role of 3BP2 in endocytic and cytoskeletal regulation through its interaction with CIN85 and HIP-55 PMID: 17306257
21. A new mutation in a family affected with cherubism PMID: 17321449
22. People with Giant Cell Granuloma of the Jaw do not harbour cherubism-related germline SH3BP2 mutations. PMID: 17544554
23. Point mutations in the SH3BP2 gene have been revealed in cherubism patients. PMID: 18596838
24. 2 novel mutations were found; heterozygous missense mutation c.1442A>T (Q481L) in exon 11 in one sporadic case of CGCL and heterozygous germline and tumor tissue missense mutation c.320C>T (T107M) in exon 4 in one patient with cherubism. PMID: 19017279
25. 3BP2 induces the protein complex with cellular signaling molecules through phosphorylation of Tyr(183) and SH2 domain leading to the activation of NFAT in B cells PMID: 19833725

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HGNC: 10825

OMIM: 118400

KEGG: hsa:6452

STRING: 9606.ENSP00000422168

UniGene: Hs.167679