Together We Can Make a Difference

Supporting families affected by TANC2-related disorders through research, community, and hope.

TANC2 Foundation is a nonprofit organization dedicated to supporting families affected by TANC2-Related Disorders (TRD). Our mission is to provide support, education, and awareness to the TANC2 community while promoting research to better understand and develop treatments.

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.

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.

You are not alone. We're here to support you on your journey with TRD.