DISEASES

Disease-gene associations mined from literature

Literature associating SH2D1B and juvenile spinal muscular atrophy

SH2D1B [ENSP00000356906]

SH2 domain-containing protein 1B; Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244. In SLAM signaling seems to cooperate with SH2D1A/SAP. Plays a role in regulation of effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without effecting its tyrosine phosphorylation; downstream signaling involves PLCG1 and ERK activation. Activation of SLAMF7-mediated NK cell function does not effect receptor tyrosine phosphorylation but distal signaling (By similarity). In the context of NK cell- mediated cytotoxicity does not enhance conjugate formation with target cells but stimulates polarization of the microtubule- organizing center and cytotoxic granules toward the NK cell synapse. Negatively regulates CD40-induced cytokine production in dendritic cells downstream of SLAM family receptors probably by inducing activation of the PI3K pathway to inhibit p38 MAPK and JNK activation (By similarity); SH2 domain containing

Synonyms:  SH2D1B,  SH2D1Bp,  hSH2D1B,  O14796,  EAT2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM