| GENE NAME | STXBP2 |
| CHROMOSOME | 19 |
| ENSEMBL ID | ENSG00000076944 |
| ENTREZ ID | 6813 |
| UNIPROT ACCESSION NUMBER | Q15833 |
| GO MOLECULAR FUNCTION | syntaxin-3 binding; syntaxin-1 binding; protein binding; syntaxin binding |
| ESSENTIAL IN MOUSE | None |
| PATHWAYS | R-HSA-449147; R-HSA-168256; R-HSA-449836; R-HSA-76005; R-HSA-1280215; R-HSA-76002; R-HSA-109582; R-HSA-114608 |
| 14 combinations linked to STXBP2 | OLI053; OLI538; OLI542; OLI535; OLI546; OLI536; OLI545; OLI543; OLI541; OLI025; OLI539; OLI057; OLI537; OLI540 |
| 11 variants linked to STXBP2 | STXBP2:c.1782*12G>A, ; STXBP2:c.592A>C, p.Thr198Pro; STXBP2:c.11C>T, p.Ser4Leu; STXBP2:c.1674G>T, p.Glu558Asp; STXBP2:c.1034C>T, p.Thr345Met; STXBP2:c.1586G>C, p.Arg529Pro; STXBP2:c.1459G>A, p.Val487Met; STXBP2:c.795-4C>T, ; STXBP2:c.911C>T, p.Thr304Met; STXBP2:c.715C>T, p.Pro239Ser; STXBP2:c.568C>T, p.Arg190Cys |
| 2 diseases linked to STXBP2 | Familial hemophagocytic lymphohistiocytosis; Primary hemophagocytic lymphohistiocytosis |