SH2B3 Chromosome 12
SH2B adaptor protein 3
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What This Gene Does
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
"Pleckstrin homology domain containing|SH2 domain containing"
Locus Type
gene with protein product
Location
12q24.12
Ensembl
ENSG00000111252
Associated Conditions (9)
Primary familial polycythemia due to EPO receptor mutation
Thrombocythemia 1
Primary myelofibrosis
SH2B3-related disorder
Uterine corpus endometrial carcinoma
Hereditary cancer
Inborn genetic diseases
Hereditary cancer-predisposing syndrome
Hepatoblastoma
Key Variants
RS147341899
Conflicting classifications of pathogenicity
Health Risk
RS148636776
Conflicting classifications of pathogenicity
Primary familial polycythemia due to EPO receptor mutation, Thrombocythemia 1, Primary myelofibrosis
Health Risk
RS79819500
Conflicting classifications of pathogenicity
SH2B3-related disorder, Uterine corpus endometrial carcinoma, SH2B3-related disorder
Health Risk
RS939947819
Conflicting classifications of pathogenicity
Hereditary cancer, Inborn genetic diseases, Hereditary cancer
Health Risk
RS751076276
Likely pathogenic
Primary myelofibrosis, Primary myelofibrosis
Health Risk
RS2500219496
Pathogenic
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS376261237
Pathogenic
Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
Health Risk
RS587776885
Pathogenic
Primary myelofibrosis, Primary myelofibrosis
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147341899 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148636776 | Health Risk | Conflicting classifications of pathogenicity | Primary familial polycythemia due to EPO receptor mutation, Thrombocythemia 1, Primary myelofibrosis |
| RS79819500 | Health Risk | Conflicting classifications of pathogenicity | SH2B3-related disorder, Uterine corpus endometrial carcinoma, SH2B3-related disorder |
| RS939947819 | Health Risk | Conflicting classifications of pathogenicity | Hereditary cancer, Inborn genetic diseases, Hereditary cancer |
| RS751076276 | Health Risk | Likely pathogenic | Primary myelofibrosis, Primary myelofibrosis |
| RS2500219496 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS376261237 | Health Risk | Pathogenic | Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS587776885 | Health Risk | Pathogenic | Primary myelofibrosis, Primary myelofibrosis |
| RS202080221 | Trait | Affects | Thrombocythemia 1, Hepatoblastoma, Primary myelofibrosis |