IHC image of CSB-PA021224LA01HU diluted at 1:400 and staining in paraffin-embedded human pancreatic tissue performed on a Leica BondTM system. After dewaxing and hydration, antigen retrieval was mediated by high pressure in a citrate buffer (pH 6.0). Section was blocked with 10% normal goat serum 30min at RT. Then primary antibody (1% BSA) was incubated at 4°C overnight. The primary is detected by a biotinylated secondary antibody and visualized using an HRP conjugated SP system.
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.
基因功能參考文獻:
All members featured a heterozygous missense c.1244G>C; p.Arg415Pro SH3BP2 mutation PMID: 28721660
The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival. PMID: 25810396
A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family PMID: 24608212
Authors conclude that a novel p.Asp419Tyr alteration in SH3BP2 to be a cherubism-causing mutation in a Turkish family. PMID: 23083484
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
These results demonstrate that PARP1 regulates expression of SH3BP2. PMID: 22820184
P416R mutation of 3BP2 causes the gain of function in B cells by increasing the interaction with specific signaling molecules. PMID: 21794028
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
The SH-3BP-2 mutation may participate in the differentiation and maturation of osteoclast-like cells in the lesion of cherubism. PMID: 19576004
over expression of SH3BP2 in RAW 264.7 cells potentiates sRANKL-stimulated phosphorylation of PLCgamma1 and PLCgamma2. PMID: 20872577
No SH3BP2 gene mutation was found in PGCL. PMID: 20002873
Regulation of FcepsilonRI-mediated degranulation by an adaptor protein 3BP2 in rat basophilic leukemia RBL-2H3 cells. PMID: 12200378
3BP2 may regulate b cell receptor-mediated gene activation through Vav proteins. PMID: 15345594
Adaptor protein SH3BP2 regulates transcription factors through its tyrosine phosphorylation and SH2 domain. PMID: 15751964
CD244-3BP2 association regulates cytolytic function but not IFN-gamma release PMID: 16177062
How SH3BP2 affects leukocyte signaling and influences cherubism PMID: 16802602
a novel A1517G missense mutation at the SH3BP2 gene in a Chinese family with multiple affected individuals with cherubism was identified PMID: 17147794
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
unexpected role of 3BP2 in endocytic and cytoskeletal regulation through its interaction with CIN85 and HIP-55 PMID: 17306257
A new mutation in a family affected with cherubism PMID: 17321449
People with Giant Cell Granuloma of the Jaw do not harbour cherubism-related germline SH3BP2 mutations. PMID: 17544554
Point mutations in the SH3BP2 gene have been revealed in cherubism patients. PMID: 18596838
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
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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相關疾病:
Cherubism (CRBM)
組織特異性:
Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.