KIRREL3

Description

The KIRREL3 (kirre like nephrin family adhesion molecule 3) is a protein-coding gene located on chromosome 11.

KIRREL3, also known as Kin of IRRE-like protein 3, Kin of irregular chiasm-like protein 3 or NEPH2, is a protein encoded by the KIRREL3 gene in humans. It belongs to the NEPH protein family, which includes NEPH1 (KIRREL) and NEPH3 (KIRREL2). These proteins are known to interact with nephrin and CASK. KIRREL3 is implicated in synapse formation, and disruptions in its function have been linked to abnormal brain function. Alongside NEPH1, it is involved in the filtration process of the kidneys and is located within the slit diaphragm.

KIRREL3 plays a crucial role in establishing specific connections between neurons, particularly in the hippocampus. It contributes to the formation of mossy fiber filopodia, which are specialized structures responsible for communication between dentate granule and GABA neurons. This protein likely acts as a homophilic adhesion molecule, facilitating cell-to-cell interactions and stabilizing filopodia contact to ensure synapse formation. It's also essential for the proper grouping of vomeronasal sensory neuron axons. Additionally, KIRREL3 might contribute to the supportive function of stromal cells in the hematopoietic system, with its secreted extracellular domain potentially playing a role in supporting hematopoietic stem cells.

KIRREL3 is also known as KIRRE, MRD4, NEPH2, PRO4502.

Associated Diseases

• intellectual disability, autosomal dominant 4
• autosomal dominant non-syndromic intellectual disability
• substance abuse