The TANC2 gene encode a Tetratricopeptide repeat, ankyrin repeated and coiled-coil containing protein 2 (OMIM*615047) located on chromosome 17q23.2-q23.3.
TANC2 is a large protein expressed in developing brain. TANC2 interacts with a protein complex at the synapses of neurons in order to regulate synapse formation and dendritic spines. Thus, alterations in the TANC2 protein may impair the communications between neurons leading to an altered neurodevelopment.
Single nucleotide variants as well as copy number variants have been detected in the TANC2 gene. Some variants (stop, frameshift, splice coding site and deletion) could lead to a TANC2 shorter protein, that is likely unable to function. Other pathogenic variants (missense variants) lead to a modified protein that may acquire or lose functions. Even if all these type of variants have been identified, more functional studies are needed to better understand and elucidate the pathophysiological mechanisms responsible for the TANC2-related neurodevelopmental disorder.
TANC2