SH2D1B
Description
The SH2D1B (SH2 domain containing 1B) is a protein-coding gene located on chromosome 1.
SH2D1B (SH2 domain-containing protein 1B) is a protein encoded by the SH2D1B gene in humans. It regulates signal transduction through receptors on antigen-presenting cells by binding to phosphotyrosines through its SH2 domain. SH2D1B has been shown to interact with SLAMF1.
SH2D1B is a cytoplasmic adapter protein that regulates receptors belonging to the signaling lymphocytic activation molecule (SLAM) family, including CD84, SLAMF1, LY9, and CD244. It cooperates with SH2D1A/SAP in SLAM signaling. SH2D1B plays a role in regulating effector functions of natural killer (NK) cells by controlling signal transduction through CD244/2B4 without affecting its tyrosine phosphorylation, leading to PLCG1 and ERK activation. Activation of SLAMF7-mediated NK cell function does not impact receptor tyrosine phosphorylation but influences distal signaling. In the context of NK cell-mediated cytotoxicity, SH2D1B doesn't enhance conjugate formation with target cells but stimulates polarization of the microtubule-organizing center and cytotoxic granules towards the NK cell synapse. SH2D1B negatively regulates CD40-induced cytokine production in dendritic cells downstream of SLAM family receptors, likely by activating the PI3K pathway to inhibit p38 MAPK and JNK activation.
SH2D1B is also known as EAT2.
Associated Diseases
- Wiskott-Aldrich syndrome
- hyper-IgM syndrome type 3
- Miyoshi myopathy
- Duane retraction syndrome
- Vogt-Koyanagi-Harada disease
