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Dedicated to supporting families and advancing research for TANC2-related disorders.

TANC2 (Tetratricopeptide repeat, ankyrin repeat and coiled-coil domain-containing protein 2) is a gene that provides instructions for making a protein found in the brain. This protein plays a crucial role in synaptic function - the communication between nerve cells.

TANC2 (Tetratricopeptide Repeat, Ankyrin Repeat and Coiled-Coil Containing 2) is a gene located on chromosome 17q23. It encodes a crucial protein that helps control the connections between brain cells, playing a vital role in brain development and function, as well as other parts of the human body where it is expressed. Scientists are still trying to understand the full scope of what this gene is responsible for.

The TANC2 protein functions as a scaffold in the postsynaptic density (PSD) of excitatory neurons, organizing multi-protein complexes at glutamatergic synapses. It's essential for dendrite formation, synaptic plasticity, and proper brain cell communication. While primarily expressed in the brain, TANC2 is also found in other tissues including heart, kidney, and liver, where its specific functions are still being studied. According to the Alliance of Genome Resources, TANC2 is predicted to enable several molecular functions including protein binding and may be involved in regulating synaptic transmission and neuronal development. Clinical studies have established strong linkages between TANC2 variants and neurodevelopmental disorders, making it a critical gene for understanding brain function and development.

TRD follows an autosomal dominant inheritance pattern. This means that when a person has one damaging variant in TANC2, they will likely have symptoms. Most cases of TRD result from spontaneous (de novo) genetic changes that occur for the first time in the affected individual and are not inherited from parents. However, TRD can also be inherited from an affected parent or may occur as a mosaic mutation where only some cells in the body carry the variant.

While mTOR pathway dysfunction was initially hypothesized as a disease mechanism, recent research by Iffland et al. (2024) has shown that the mTOR pathway is NOT a primary mechanism in TANC2-related disorders. Current research focuses on synaptic function and neuronal connectivity.