Details for Gene SH2D1A

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

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