Aliases for SH2D1B Gene
External Ids for SH2D1B Gene
Previous GeneCards Identifiers for SH2D1B Gene
By binding phosphotyrosines through its free SRC (MIM 190090) homology-2 (SH2) domain, EAT2 regulates signal transduction through receptors expressed on the surface of antigen-presenting cells (Morra et al., 2001 [PubMed 11689425]).[supplied by OMIM, Mar 2008]
GeneCards Summary for SH2D1B Gene
SH2D1B (SH2 Domain Containing 1B) is a Protein Coding gene. Diseases associated with SH2D1B include Benign Paroxysmal Positional Nystagmus and Dendritic Cell Deficiency. Among its related pathways are Class I MHC mediated antigen processing and presentation and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (GO) annotations related to this gene include protein binding, bridging. An important paralog of this gene is SH2D1A.
UniProtKB/Swiss-Prot Summary for SH2D1B Gene
Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as CD84, SLAMF1, LY9 and CD244 (PubMed:11689425). 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 (PubMed:24687958). 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 (PubMed:24687958). 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).