SRPX2

Description

The SRPX2 (sushi repeat containing protein X-linked 2) is a protein-coding gene located on chromosome X.

SRPX2, a protein encoded by the SRPX2 gene on the X chromosome, is involved in glutamatergic synapse formation in the cerebral cortex. It is more highly expressed in childhood and is distributed on synapses throughout the cerebral cortex and hippocampus, often in the same areas as vesicular glutamate transporter 1 and DLG4. Overexpression of SRPX2 leads to increased density of vesicular glutamate transporter 1 and DLG4 clusters on cortical neurons, while deficiency results in decreased dendritic spine density of excitatory glutamatergic synapses, leaving inhibitory GABAergic synapses unaffected. The length and shape of spines remain unaffected by SPRX2. Mutations in SRPX2 were initially linked to a form of Rolandic epilepsy with intellectual disability and speech dyspraxia but later studies showed that these mutations do not necessarily lead to epilepsy or intellectual disability. Since then, no mutations in SRPX2 have been reported in relation to Rolandic epilepsy.

SRPX2 acts as a ligand for the urokinase plasminogen activator surface receptor. It plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular networks. SRPX2 is involved in cellular migration and adhesion. It increases the phosphorylation levels of FAK and interacts with HGF, enhancing its mitogenic activity. SRPX2 promotes synapse formation and may have a role in the perisylvian region, which is critical for language and cognitive development.

SRPX2 is also known as BPP, CBPS, PMGX, RESDX, SRPUL.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing