Identity
HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
3BP-2,3BP2,CRBM,CRPM,RES4-23
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6452
MIM: 602104
HGNC: 10825
Ensembl: ENSG00000087266
Variants:
dbSNP: 6452
ClinVar: 6452
TCGA: ENSG00000087266
COSMIC: SH3BP2
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Natural killer cell mediated cytotoxicity | KEGG | ko04650 |
| Natural killer cell mediated cytotoxicity | KEGG | hsa04650 |
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10004 | adalimumab | Chemical | VariantAnnotation | not associated | PD | 23007924 | |
| PA164713366 | Tumor necrosis factor alpha (TNF-alpha) inhibitors | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 23007924, 30653751 | |
| PA443434 | Arthritis, Rheumatoid | Disease | VariantAnnotation | not associated | PD | 23007924 | |
| PA445451 | Psoriasis | Disease | ClinicalAnnotation | associated | PD | 30653751 | |
| PA446198 | Arthritis, Psoriatic | Disease | ClinicalAnnotation | associated | PD | 30653751 | |
| PA449515 | etanercept | Chemical | VariantAnnotation | not associated | PD | 23007924 | |
| PA452639 | infliximab | Chemical | VariantAnnotation | not associated | PD | 23007924 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38127456 | 2024 | Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome. | 1 |
| 38127456 | 2024 | Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome. | 1 |
| 33941395 | 2022 | SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review. | 2 |
| 35279646 | 2022 | [Cherubism in three siblings]. | 0 |
| 33941395 | 2022 | SH3BP2-related fibro-osseous disorders of the maxilla and mandible: A systematic review. | 2 |
| 35279646 | 2022 | [Cherubism in three siblings]. | 0 |
| 28721660 | 2018 | Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. | 2 |
| 29885053 | 2018 | Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth. | 8 |
| 28721660 | 2018 | Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. | 2 |
| 29885053 | 2018 | Silencing of adaptor protein SH3BP2 reduces KIT/PDGFRA receptors expression and impairs gastrointestinal stromal tumors growth. | 8 |
| 25810396 | 2015 | The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival. | 13 |
| 25810396 | 2015 | The adaptor 3BP2 is required for KIT receptor expression and human mast cell survival. | 13 |
| 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. | 2 |
| 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. | 2 |
| 22795151 | 2012 | Mutations of the SH3BP2 gene in 2 families of cherubism. | 1 |
Citation
Dessen P
SH3BP2 (SH3 domain binding protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/42283
