STXBP2 Chromosome 19
Syntaxin binding protein 2
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What This Gene Does
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
Associated Conditions (17)
Familial hemophagocytic lymphohistiocytosis 5
Autoinflammatory syndrome
STXBP2-related disorder
Inborn genetic diseases
Familial hemophagocytic lymphohistiocytosis
Abnormal bleeding
Thrombocytopenia
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS
FAMILIAL
5
WITHOUT MICROVILLUS INCLUSION DISEASE
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Malignant tumor of urinary bladder
Lung cancer
Key Variants
RS114628602
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS1229883838
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS138099253
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
RS142105943
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
RS1434458616
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, STXBP2-related disorder, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS144233139
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS144914451
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
RS145260482
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS146165014
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS146425381
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS146685108
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
Health Risk
RS148868283
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome, STXBP2-related disorder
Health Risk
All Variants (128)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2512691738 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512695145 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512697589 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512700267 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512700288 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512700296 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512705792 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512706203 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512707857 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512708025 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512711110 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS2512711277 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS373462454 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS753205026 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS759657187 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS769717341 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5 |
| RS953725612 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS141717050 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5 |
| RS1555768979 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS1599389041 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS747556765 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS760061071 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS765763103 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5 |
| RS768725365 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5 |
| RS772141641 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS772962304 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |
| RS773917703 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis |
| RS779558314 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5 |