DISEASES

Disease-gene associations mined from literature

Literature associating SH2D1A and B cell deficiency

SH2D1A [ENSP00000360181]

Signaling lymphocytic activation molecule-associated protein; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed that association with SLAMF1 prevents SLAMF1 binding to inhibitory effectors including INPP5D/SHIP1 and PTPN11/SHP-2. However, by simultaneous interactions, recruits FYN which subsequently phosphorylates and activates SLAMF1. Positively regulates CD244/2B4- and CD84- mediated natural killer (NK) cell functions. Can also promote CD48-, SLAMF6 -, LY9-, and SLAMF7-mediated NK cell activation. In the context of NK cell-mediated cytotoxicity enhances conjugate formation with target cells (By similarity). May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3; SH2 domain containing

Synonyms:  SH2D1A,  SH2D1Ap,  hSH2D1A,  O60880,  DSHP ...

Linkouts:  STRING  Pharos  UniProt  OMIM