SH2D6 encodes an SH2 domain-containing protein involved in intracellular signal transduction and protein-macromolecule adaptor activity 12. The protein localizes to the cytoplasm and participates in cell surface receptor protein tyrosine kinase signaling pathways [GO Annotations]. SH2D6 exhibits a motif similar to the kinesin-light chain 1 (KLC1)-binding motif of JIP1, suggesting it may function as a cargo protein for kinesin1-dependent cellular transport, a mechanism important for neuronal function 3. Clinically, SH2D6 has emerged as relevant to neurodevelopmental disorders. Microdeletions spanning the 2p11.2 region that include SH2D6, along with ELMOD3 and CAPG, have been identified in autism spectrum disorder (ASD) families, with evidence suggesting that ELMOD3-SH2D6 fusion transcripts may contribute to ASD pathogenesis 12. A homozygous 2p11.2 deletion affecting SH2D6 was associated with ASD, intellectual disability, and hearing impairment, indicating SH2D6 may contribute to this contiguous deletion syndrome phenotype 2. These findings suggest SH2D6 plays a role in neurodevelopmental processes, potentially through signal transduction and intracellular transport mechanisms critical for normal brain development and function.