SH3BP2 Chromosome 4
SH3 domain binding protein 2
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What This Gene Does
The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Pleckstrin homology domain containing|SH2 domain containing"
Locus Type
gene with protein product
Location
4p16.3
Ensembl
ENSG00000087266
Associated Conditions (4)
Fibrous dysplasia of jaw
Inborn genetic diseases
Malignant tumor of urinary bladder
SH3BP2-related disorder
Key Variants
RS141262371
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
Health Risk
RS141518457
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw
Health Risk
RS144577122
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Malignant tumor of urinary bladder, Fibrous dysplasia of jaw
Health Risk
RS144848283
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
Health Risk
RS148117486
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw
Health Risk
RS150461713
Conflicting classifications of pathogenicity
Inborn genetic diseases, Fibrous dysplasia of jaw, Inborn genetic diseases
Health Risk
RS150572069
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, SH3BP2-related disorder, Fibrous dysplasia of jaw
Health Risk
RS199818232
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw
Health Risk
RS200156713
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
Health Risk
RS200463050
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw
Health Risk
RS201197278
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw
Health Risk
RS201536400
Conflicting classifications of pathogenicity
Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141262371 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS141518457 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS144577122 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Malignant tumor of urinary bladder, Fibrous dysplasia of jaw |
| RS144848283 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS148117486 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS150461713 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Fibrous dysplasia of jaw, Inborn genetic diseases |
| RS150572069 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, SH3BP2-related disorder, Fibrous dysplasia of jaw |
| RS199818232 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS200156713 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS200463050 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS201197278 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS201536400 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS201966956 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS201983881 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS231399 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS367984149 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, SH3BP2-related disorder, Fibrous dysplasia of jaw |
| RS371366593 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS372762732 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS373554386 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS373894173 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS374608155 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, SH3BP2-related disorder |
| RS377411211 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS751798471 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS753681184 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS754590367 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS756606586 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS757550176 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS758096402 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS767658389 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS768146888 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS771719677 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS868684244 | Health Risk | Conflicting classifications of pathogenicity | Fibrous dysplasia of jaw, Inborn genetic diseases, Fibrous dysplasia of jaw |
| RS28938171 | Health Risk | Likely pathogenic | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS121909146 | Health Risk | Pathogenic | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS121909149 | Health Risk | Pathogenic | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS28938170 | Health Risk | Pathogenic | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw, SH3BP2-related disorder |
| RS757336022 | Health Risk | Pathogenic/Likely pathogenic | Fibrous dysplasia of jaw, Fibrous dysplasia of jaw, SH3BP2-related disorder |