SRPX2

This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability.

Full Name

Sushi Repeat Containing Protein, X-Linked 2

Function

Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development.

Biological Process

Biological Process angiogenesisIEA:UniProtKB-KW
Biological Process cell motilityManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process cell-cell adhesionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of cell migration involved in sprouting angiogenesisISS:UniProtKB
Biological Process positive regulation of synapse assemblyManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process regulation of phosphorylationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process vocalization behaviorIEA:Ensembl

Cellular Location

Secreted
Cytoplasm
Cell surface
Synapse

Involvement in disease

Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked (RESDX):
A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and intellectual disability. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention.

PTM

Contains chondroitin sulfate chains.