Affinage

SH3BP2

SH3 domain-binding protein 2 · UniProt P78314

Length
561 aa
Mass
62.2 kDa
Annotated
2026-06-10
50 papers in source corpus 21 papers cited in narrative 20 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 4/5 claims corpus-supported (80%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

SH3BP2 (3BP2) is a cytoplasmic scaffold/adaptor protein that positively regulates osteoclastogenesis and myeloid inflammatory signaling, and it is the causative gene for the bone-resorption disorder cherubism, in which missense mutations clustering in exon 9 (residues 415-420) act as gain-of-function alleles (PMID:11381256, PMID:16786512). Mechanistically, SH3BP2 amplifies osteoclast differentiation by potentiating SYK and PLCγ1/PLCγ2 phosphorylation, which drives calcineurin-dependent NFATc1 nuclear translocation and induction of osteoclast-specific genes; loss of SH3BP2 by knockdown or knockout reduces PLCγ2/NFATc1 signaling and yields smaller, less resorptive osteoclasts, while overexpression has the opposite effect (PMID:18440306, PMID:21448930, PMID:24916406). Its adapter output is constrained by negative regulation through PKC-dependent phosphorylation of Ser225/Ser277 and consequent 14-3-3 binding, which restrains NFAT activity (PMID:12501243), and by tankyrase (PARP5)-catalyzed ADP-ribosylation that targets the protein for degradation; SH3BP2 transcription is in turn driven by PARP1 binding to its promoter (PMID:22820184, PMID:30813388). Cherubism mutations disrupt tankyrase-mediated turnover, stabilizing SH3BP2 and enhancing TNF-α production and both RANKL-dependent and RANKL-independent, TNF-α-driven osteoclastogenesis, producing systemic autoinflammation and bone destruction in knock-in mice (PMID:17218256, PMID:24916406, PMID:32258251). Beyond bone, SH3BP2 assembles a PLCγ2–VAV2 signalosome in podocytes (PMID:38127456) and modulates dendritic cell and microglial inflammatory responses and KIT/PDGFRA/MITF expression in gastrointestinal stromal tumors (PMID:29885053, PMID:33920631, PMID:39546158).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2001 High

    Establishing that SH3BP2 mutations cause cherubism converted an uncharacterized adaptor into the genetic driver of a defined bone-resorption disease and localized the critical residues to exon 9.

    Evidence Direct sequencing of SH3BP2 across affected families identifying seven mutations at residues 415-420

    PMID:11381256

    Open questions at the time
    • Did not establish whether mutations are gain- or loss-of-function
    • No mechanism linking the residues to protein behavior
  2. 2002 High

    Identifying phosphorylation-dependent 14-3-3 binding showed how SH3BP2 adapter activity is held in check, defining a negative regulatory input on its NFAT-driving function.

    Evidence Yeast two-hybrid, co-IP, in vitro PKC kinase assay, Ser225/Ser277 mutagenesis, and NFAT reporter in lymphocytes

    PMID:12501243

    Open questions at the time
    • Did not connect 14-3-3 regulation to cherubism mutations in exon 9
    • Tested in lymphocytes rather than myeloid/osteoclast lineage
  3. 2006 Medium

    Demonstrating that cherubism alleles increase NFAT transcriptional activity provided the first functional evidence that these mutations are gain-of-function.

    Evidence Transient transfection of R415Q/P418R/D419N/D420E with NFAT-luciferase reporter

    PMID:16786512

    Open questions at the time
    • Reporter-based readout without endogenous validation
    • No upstream signaling mechanism defined
  4. 2007 High

    A cherubism knock-in mouse established that gain-of-function SH3BP2 drives TNF-α-dependent, myeloid-cell-intrinsic systemic inflammation and bone loss, defining the disease cell-of-origin.

    Evidence P416R knock-in mice, fetal liver/bone marrow transfer, ERK/SYK western blot, RANKL/M-CSF stimulation, TNF-α measurement

    PMID:17218256

    Open questions at the time
    • Did not resolve the full downstream signaling axis to NFATc1
    • Mechanism of protein stabilization not addressed
  5. 2008 Medium

    Linking SH3BP2 to PLCγ phosphorylation and NFATc1 translocation supplied the intracellular pathway connecting the adaptor to osteoclast differentiation.

    Evidence Overexpression in RAW264.7 cells with PLCγ phospho-western, TRAP staining, NFATc1 localization

    PMID:18440306

    Open questions at the time
    • Overexpression system only
    • Did not test cherubism mutants
  6. 2010 Medium

    Comparing mutant versus wild-type SH3BP2 confirmed that cherubism alleles potentiate the RANKL→PLCγ→NFAT axis, and a separate study revealed an additional osteoblast-suppressive effect, broadening the disease mechanism beyond osteoclasts.

    Evidence Transfection of WT vs mutant SH3BP2 with PLCγ phospho-western and TRAP in RAW264.7; knock-in osteoblast cultures with mineralization and marker analysis

    PMID:20117257 PMID:20691350 PMID:20872577

    Open questions at the time
    • Osteoblast defect mechanism not molecularly defined
    • Cell-line and culture systems
  7. 2011 High

    Loss-of-function by shRNA and knockout established SH3BP2 as a required positive regulator of osteoclast differentiation and resorption, while biochemical work attributed mutant protein accumulation to disrupted tankyrase-mediated degradation.

    Evidence shRNA and Sh3bp2-/- BMM cultures with PLCγ2/NFATc1 western, TRAP and resorption assays; commentary citing tankyrase primary biochemistry

    PMID:21448930 PMID:22153068

    Open questions at the time
    • Tankyrase mechanism summarized in commentary rather than primary data here
    • Stoichiometry of degradation control not quantified
  8. 2012 High

    Identifying PARP1 as a promoter-binding transcriptional driver of SH3BP2 added a layer controlling its abundance distinct from protein turnover.

    Evidence EMSA, ChIP, promoter deletion/mutagenesis of the -44 to -21 site, Parp1 knockout BMMs

    PMID:22820184

    Open questions at the time
    • Signals that regulate PARP1 occupancy unknown
    • Relevance to cherubism mutant expression not tested
  9. 2014 High

    Defining a SYK→PLCγ2→NFATc1 axis showed that mutant SH3BP2 enables TNF-α to drive RANKL-independent osteoclastogenesis and exacerbates inflammatory arthritis through myeloid TNF-α.

    Evidence Knock-in BMM cultures, SYK/PLCγ2 western, NFATc1 localization, calvarial TNF-α injection, hTNFtg and collagen-induced arthritis models

    PMID:24916406 PMID:25144740

    Open questions at the time
    • Lymphocyte contribution excluded but DC/other myeloid roles not yet defined
    • Did not separate resorption from differentiation
  10. 2019 High

    Pharmacological tankyrase inhibition and conditional SYK/SH3BP2 deletion confirmed tankyrase as a negative regulator of SH3BP2 levels and dissected SH3BP2-SYK control of osteoclast resorptive function from differentiation in disease.

    Evidence Tankyrase inhibitor in mice with micro-CT; LysM-Cre conditional Sh3bp2/Syk knockout, SYK inhibitor, periodontitis model, resorption assay

    PMID:30813388 PMID:31613396

    Open questions at the time
    • Direct ADP-ribosylation site mapping not shown in these entries
    • Whether SYK axis governs resorption in cherubism-mutant cells not tested here
  11. 2020 High

    Genetic epistasis with Rankl-/- mice proved SH3BP2 gain-of-function can produce osteoclasts entirely independent of RANKL, reframing the disease as TNF-α-driven.

    Evidence Sh3bp2 KI × Rankl-/- double mutants with TRAP/cathepsin K staining, micro-CT, serum TNF-α/TRAP5b

    PMID:32258251

    Open questions at the time
    • The receptor/signal substituting for RANKL not fully defined
    • Restricted to gain-of-function background
  12. 2024 Medium

    Expanding SH3BP2 beyond bone, studies placed it in a PLCγ2-VAV2 podocyte signalosome in nephrotic syndrome and identified inflammatory roles in dendritic cells, microglia (JAK/STAT), and GIST oncogenesis (KIT/PDGFRA/MITF).

    Evidence Co-IP of SH3BP2 with PLCγ2/VAV2 in podocytes plus KI mouse; lupus-model DC and conditional B cell KO; shSH3BP2 in microglia/SCI; shRNA silencing with rescue in GIST lines and xenografts

    PMID:29885053 PMID:33920631 PMID:38127456 PMID:39546158

    Open questions at the time
    • Podocyte signalosome shown by single Co-IP without reciprocal validation
    • Mechanistic link between SH3BP2 and JAK/STAT or MITF not biochemically defined
    • Direct partners in non-myeloid contexts incompletely mapped
  13. 2021 Medium

    Linking TLR2/4 and neutrophils to jawbone lesions situated SH3BP2 gain-of-function downstream of PAMP-induced innate signaling, explaining the jaw-specific manifestation of cherubism.

    Evidence Sh3bp2 KI pulp-exposure model with Tlr2/4 knockout epistasis, anti-Ly6G neutrophil depletion, micro-CT and cytokine analysis

    PMID:35079675

    Open questions at the time
    • Direct molecular coupling of TLR signaling to SH3BP2 not shown
    • Single-lab in vivo model

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how SH3BP2's distinct regulatory inputs (PARP1 transcription, tankyrase degradation, 14-3-3 sequestration) are integrated quantitatively and whether the same SYK→PLCγ→NFAT module operates across its non-osteoclast roles in podocytes, dendritic cells, microglia, and GISTs.
  • No structural model of SH3BP2 in complex with its partners
  • Cross-tissue conservation of the signaling axis untested
  • Therapeutic targeting via tankyrase/SYK in cherubism patients not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005829 cytosol 2
Pathway
R-HSA-162582 Signal Transduction 4 R-HSA-1643685 Disease 4 R-HSA-168256 Immune System 4 R-HSA-1266738 Developmental Biology 3
Partners
14-3-3PARP1PLCG1PLCG2SYKTNKSVAV2
Complex memberships
SH3BP2-PLCγ2-VAV2 signalosome

Evidence

Reading pass · 20 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 Missense mutations in SH3BP2 (mapping to exon 9, residues 415-420) cause cherubism, identifying SH3BP2 as the causative gene for this bone resorption disorder. Direct sequencing of SH3BP2 in affected families; identification of seven distinct mutations Nature genetics High 11381256
2002 14-3-3 chaperone proteins physically interact with SH3BP2 (3BP2) in a phosphorylation-dependent manner; PKC-mediated phosphorylation of Ser225 and Ser277 within proline-rich domains (residues 201-240 and 270-310) is required for 14-3-3 binding, and this interaction negatively regulates SH3BP2 adapter function (NFAT transcriptional activity) in lymphocytes. Yeast two-hybrid, co-immunoprecipitation, alkaline phosphatase dephosphorylation assay, in vitro PKC kinase assay, deletion mutant mapping, NFAT-reporter assay The Journal of biological chemistry High 12501243
2006 Cherubism-associated SH3BP2 mutations (R415Q, P418R, D419N, D420E) are gain-of-function mutations that increase NFAT transcriptional activity when transiently expressed in cells. Transient transfection of mutant SH3BP2 constructs with NFAT-luciferase reporter assay Human mutation Medium 16786512
2007 Cherubism knock-in mice (P416R Sh3bp2) exhibit TNF-α-dependent systemic inflammation and bone loss driven by myeloid cells; mutant myeloid cells show increased ERK1/2 and SYK phosphorylation in response to M-CSF and RANKL, forming large osteoclasts with high TNF-α expression. The phenotype is lymphocyte-independent and transferable via mutant fetal liver cells, establishing SH3BP2 gain-of-function in myeloid cells as the mechanism. Knock-in mouse model, fetal liver cell transfer, bone marrow transplantation, ERK/SYK western blot, RANKL/M-CSF stimulation assays, TNF-α measurement Cell High 17218256
2008 SH3BP2 overexpression in RAW 264.7 preosteoclast cells increases NFATc1 nuclear translocation and TRAP expression in response to sRANKL, and potentiates PLCγ1 and PLCγ2 phosphorylation, providing a mechanistic pathway linking SH3BP2 to osteoclastogenesis via PLCγ→calcineurin→NFATc1. Overexpression in RAW264.7 cells, western blot for PLCγ phosphorylation, TRAP staining, NFATc1 nuclear localization assay Biochemical and biophysical research communications Medium 18440306
2010 Cherubism-associated mutant SH3BP2 (compared to wild-type) potentiates RANKL-induced PLCγ1 and PLCγ2 phosphorylation, leading to greater NFAT activation and osteoclast differentiation (TRAP expression) in RAW264.7 cells, confirming gain-of-function mechanism through the PLCγ→NFATc1 axis. Transient transfection of wild-type vs mutant SH3BP2, NFAT-luciferase reporter, TRAP staining, western blot for PLCγ phosphorylation Journal of orthopaedic research Medium 20872577
2010 The P416R cherubism mutation in Sh3bp2 knock-in mice impairs osteoblast differentiation and function: homozygous mutant osteoblast cultures show decreased alkaline phosphatase expression, reduced mineralization, and decreased expression of osteoblast markers (Col1a1, ALP, osteocalcin). Mutant osteoblasts also increase osteoclastogenesis in co-culture with bone marrow macrophages. Knock-in mouse calvarial osteoblast cultures, GFP-Col1a1 transgene reporter, FTIRI bone mineral analysis, co-culture assay, gene expression analysis Bone Medium 20117257 20691350
2011 shRNA knockdown of SH3BP2 in RAW264.7 and bone marrow macrophages (BMMs) decreases PLCγ2 phosphorylation, NFATc1 expression, osteoclast-specific gene expression, and reduces osteoclast number, size, and bone resorptive activity; Sh3bp2-/- BMMs similarly form smaller, less active osteoclasts, establishing SH3BP2 as a positive regulator of osteoclast differentiation and function. shRNA knockdown, Sh3bp2-/- mouse BMM cultures, western blot for PLCγ2/NFATc1, TRAP staining, bone resorption assay Journal of orthopaedic research High 21448930
2011 Tankyrase (PARP5) interaction with SH3BP2 is disrupted by cherubism mutations, leading to SH3BP2 stabilization (loss of tankyrase-mediated degradation); this mechanism was highlighted as central to understanding why cherubism mutations cause protein accumulation. Review/commentary citing two Cell papers (Guettler et al. and Levaot et al.) — mechanistic evidence from referenced primary studies Cell Medium 22153068
2012 PARP1 binds to the SH3BP2 promoter at a specific site (−44 to −21) and is essential for SH3BP2 transcriptional expression; PARP1 knockout in mice reduces SH3BP2 expression in BMMs. Streptavidin-biotin purification, EMSA, ChIP assay, promoter deletion analysis, mutagenesis of PARP1 binding site, Parp1 knockout mouse BMMs Biochemical and biophysical research communications High 22820184
2014 The P416R cherubism mutation in SH3BP2 enables TNF-α to drive RANKL-independent osteoclastogenesis in BMMs via SYK and PLCγ2 phosphorylation leading to increased NFATc1 nuclear translocation; heterozygous mutant mice show exacerbated bone loss in TNF-α calvarial injection and hTNFtg models. SH3BP2 knockdown in RAW264.7 cells reduces TNF-α-induced osteoclast formation. Knock-in mouse BMM cultures, western blot for SYK/PLCγ2, NFATc1 nuclear localization, calvarial TNF-α injection model, hTNFtg mouse model, shRNA knockdown Journal of bone and mineral research High 24916406
2014 SH3BP2 gain-of-function (P416R) augments inflammation and bone loss in collagen-induced arthritis through increased macrophage TNF-α production and enhanced RANKL-induced osteoclastogenesis with increased NFATc1 nuclear localization; lymphocyte responses (proliferation, IFN-γ, IL-17, anti-CII antibodies) were not significantly different between wild-type and mutant mice. CIA mouse model, paw swelling assessment, micro-CT, histology, cytokine gene expression, BMM culture for TNF-α and osteoclastogenesis, NFATc1 nuclear localization, lymph node cell culture PloS one High 25144740
2019 Tankyrase (PARP5) catalyzes ADP-ribosylation of SH3BP2, targeting it for degradation; pharmacological tankyrase inhibition in mice stabilizes SH3BP2 leading to increased osteoclast formation and bone loss, establishing tankyrase as a negative regulator of SH3BP2 protein levels and osteoclastogenesis. Tankyrase inhibitor treatment in mice, micro-CT bone analysis, osteoclast formation assays — reviewed mechanistic data from primary studies Cells Medium 30813388
2019 SH3BP2 functions through a SH3BP2-SYK signaling axis to regulate the bone-resorbing function (not differentiation) of osteoclasts in periodontitis; conditional knockout of SH3BP2 and SYK in myeloid cells (LysM-Cre) reduces alveolar bone loss without affecting inflammatory cytokine expression or osteoclast induction. Sh3bp2-/- mice, conditional myeloid knockout (LysM-Cre), ligature-induced periodontitis model, micro-CT, SYK inhibitor (GS-9973), in vitro mineral resorption assay Journal of bone and mineral research High 31613396
2018 SH3BP2 silencing in GIST cell lines downregulates oncogenic KIT and PDGFRA expression and reduces microphthalmia-associated transcription factor (MITF) levels; reconstitution of both SH3BP2 and MITF rescues cell viability, placing SH3BP2 upstream of MITF in regulating KIT/PDGFRA expression in GISTs. shRNA silencing in GIST cell lines, western blot, overexpression rescue experiment, in vivo xenograft tumor growth assay, migration assay Molecular oncology Medium 29885053
2020 SH3BP2 gain-of-function (homozygous P416R) drives RANKL-independent osteoclastogenesis in vivo; Sh3bp2 knock-in mice develop TRAP-positive, cathepsin K-positive multinucleated osteoclasts spontaneously even in the absence of RANKL (Rankl-/- background), with elevated serum TNF-α as the likely driver. Sh3bp2 KI × Rankl-/- double mutant mouse model, TRAP staining, cathepsin K staining, micro-CT bone analysis, osteoclast marker gene expression, serum TRAP5b and TNF-α measurement Bone reports High 32258251
2021 SH3BP2 deficiency suppresses dendritic cell differentiation in vitro and reduces the number of dendritic cells in spleens of lupus-prone mice; B cell-specific SH3BP2 deficiency does not rescue lupus phenotypes, indicating the relevant SH3BP2 function in lupus is not B cell-intrinsic. SH3BP2-deficient mouse on Fas lupus background, flow cytometry of lymphocyte subsets, B cell-specific conditional KO, in vitro dendritic cell differentiation assay International journal of molecular sciences Medium 33920631
2024 SH3BP2 forms a signalosome complex with PLCγ2 and VAV2 (Rho-GEF) in human podocytes, as shown by co-immunoprecipitation; downstream signaling through MyD88, TRIF, and NFATc1 is upregulated in SH3BP2-associated nephrotic syndrome. Co-immunoprecipitation of SH3BP2 with PLCγ2 and VAV2 in human podocytes, Sh3bp2 KI/KI transgenic mouse model (albuminuria measurement) JCI insight Medium 38127456
2024 SH3BP2 silencing inhibits microglia activation and neuroinflammation via the JAK/STAT signaling pathway; silencing decreases phosphorylation of JAK and STAT in LPS-stimulated microglia and improves neurological outcomes in spinal cord injury rat models. Lentiviral shSH3BP2 injection in SCI rat model, LPS-stimulated BV2 and primary microglia, western blot for p-JAK/p-STAT, qRT-PCR, immunofluorescence, behavioral assays Inflammation Medium 39546158
2021 TLR2/4-mediated inflammation in the jaw triggers cherubism-like bone expansion specifically in Sh3bp2 gain-of-function mice; ablation of Tlr2/4 signaling or neutrophil depletion (anti-Ly6G) ameliorates jawbone expansion, placing SH3BP2 gain-of-function downstream of pathogen-associated molecular pattern (PAMP)-induced TLR signaling in jawbone lesion development. Sh3bp2 KI mouse pulp exposure model, Tlr2/4 knockout genetic epistasis, anti-Ly6G neutrophil depletion, histology, cytokine expression, micro-CT JBMR plus Medium 35079675

Source papers

Stage 0 corpus · 50 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nature genetics 277 11381256
2007 Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. Cell 149 17218256
2012 The role of SH3BP2 in the pathophysiology of cherubism. Orphanet journal of rare diseases 74 22640988
2014 SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 53 24916406
2002 The chaperone protein 14-3-3 interacts with 3BP2/SH3BP2 and regulates its adapter function. The Journal of biological chemistry 46 12501243
2003 Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. American journal of medical genetics. Part A 40 12900899
2003 A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 39 14577811
2006 Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. Human mutation 35 16786512
1997 Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer. Genomics 35 9299232
2008 SH3BP2 is an activator of NFAT activity and osteoclastogenesis. Biochemical and biophysical research communications 30 18440306
2008 Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. Oral diseases 30 19017279
2007 Mutations in SH3BP2, the cherubism gene, were not detected in central or peripheral giant cell tumours of the jaw. The British journal of oral & maxillofacial surgery 30 17544554
2019 Tankyrase (PARP5) Inhibition Induces Bone Loss through Accumulation of Its Substrate SH3BP2. Cells 29 30813388
2014 Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-α-induced inflammation and bone loss. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 27 24978678
2006 A novel mutation in the SH3BP2 gene causes cherubism: case report. BMC medical genetics 27 17147794
2006 DNA analysis of the SH3BP2 gene in patients with aggressive central giant cell granuloma. The British journal of oral & maxillofacial surgery 22 16713042
2014 SH3BP2 gain-of-function mutation exacerbates inflammation and bone loss in a murine collagen-induced arthritis model. PloS one 21 25144740
2007 A novel mutation of the SH3BP2 gene in an aggressive case of cherubism. Oral oncology 17 17368082
2019 Alveolar Bone Protection by Targeting the SH3BP2-SYK Axis in Osteoclasts. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 16 31613396
2010 Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties. Bone 15 20117257
2007 SH3BP2 is rarely mutated in exon 9 in giant cell lesions outside cherubism. Clinical orthopaedics and related research 14 17545756
2019 Sh3bp2 Gain-Of-Function Mutation Ameliorates Lupus Phenotypes in B6.MRL-Fas Mice. Cells 13 31052273
2010 Cherubism gene Sh3bp2 is important for optimal bone formation, osteoblast differentiation, and function. American journal of orthodontics and dentofacial orthopedics : official publication of the American Association of Orthodontists, its constituent societies, and the American Board of Orthodontics 13 20691350
2018 Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth. Molecular oncology 12 29885053
2021 SH3BP2 Deficiency Ameliorates Murine Systemic Lupus Erythematosus. International journal of molecular sciences 11 33920631
2011 SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma. International journal of oral and maxillofacial surgery 11 21680150
2010 Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report. Molecular syndromology 11 21045962
2008 Investigation of the SH3BP2 gene mutation in cherubism. Acta medica Okayama 10 18596838
2020 RANKL-independent osteoclastogenesis in the SH3BP2 cherubism mice. Bone reports 8 32258251
2010 SH3BP2 mutations potentiate osteoclastogenesis via PLCγ. Journal of orthopaedic research : official publication of the Orthopaedic Research Society 8 20872577
2021 SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review. International journal of oral and maxillofacial surgery 7 33941395
2012 A novel c.1255G>T (p.D419Y) mutation in SH3BP2 gene causes cherubism in a Turkish family. Oral surgery, oral medicine, oral pathology and oral radiology 6 23083484
2011 Tankyrase loses its grip on SH3BP2 in cherubism. Cell 6 22153068
2024 Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome. JCI insight 5 38127456
2022 SH3BP2 Silencing Increases miRNAs Targeting ETV1 and Microphthalmia-Associated Transcription Factor, Decreasing the Proliferation of Gastrointestinal Stromal Tumors. Cancers 5 36551682
2021 Tlr2/4-Mediated Hyperinflammation Promotes Cherubism-Like Jawbone Expansion in Sh3bp2 (P416R) Knockin Mice. JBMR plus 5 35079675
2014 Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. Bone 5 25445458
2012 Mutations of the SH3BP2 gene in 2 families of cherubism. Pediatric dentistry 5 22795151
2022 Overexpression of DEL-1 Downregulates SH3BP2 Expression and Inhibits Porphyromonas gingivalis-induced Gingival Inflammation In Vivo and In Vitro. Oral health & preventive dentistry 4 35481344
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. Medicina oral, patologia oral y cirugia bucal 4 24608212
2013 Novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism. Congenital anomalies 4 24712477
2024 Silencing of SH3BP2 Inhibits Microglia Activation Via the JAK/STAT Signaling in Spinal Cord Injury Models. Inflammation 3 39546158
2012 Cloning and characterization of the human SH3BP2 promoter. Biochemical and biophysical research communications 3 22820184
2011 Decreased SH3BP2 inhibits osteoclast differentiation and function. Journal of orthopaedic research : official publication of the Orthopaedic Research Society 3 21448930
2026 Paeoniflorin Ameliorates Metabolic Dysfunction-Associated Steatotic Liver Disease by SYK/SH3BP2 Signaling Pathway. Research (Washington, D.C.) 2 41635508
2006 [Mutation detection in SH3BP2 gene in a cherubism family]. Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology 2 16836910
2024 Emerging Role of SH3BP2 as Regulator of Immune and Nonimmune Cells in Nephrotic Syndrome. Glomerular diseases 1 39991193
2008 SH3BP2 is a critical regulator of macrophage and osteoclast response to M-CSF and RANKL stimulation. HSS journal : the musculoskeletal journal of Hospital for Special Surgery 1 18953613
2025 Comparative analysis of osteoclast function in symptomatic and asymptomatic individuals with cherubism-causing SH3BP2 mutation. JBMR plus 0 41019663
2009 [Gene mutation and expression of SH-3BP-2 in cherubism]. Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology 0 19576004

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