GENE NAME | SH2D1A |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000183918 |
ENTREZ ID | 4068 |
UNIPROT ACCESSION NUMBER | O60880 |
GO MOLECULAR FUNCTION | protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1280218; hsa04650; R-HSA-168256; R-HSA-198933 |
1 combination linked to SH2D1A | OLI054 |
1 variant linked to SH2D1A | SH2D1A:c.293T>C, p.Leu98Pro |
1 disease linked to SH2D1A | Primary hemophagocytic lymphohistiocytosis |