SRPX2
Chr Xsushi repeat containing protein X-linked 2
Also known as: BPP, CBPS, PMGX, RESDX, SRPUL
The SRPX2 protein is secreted and contains sushi repeat motifs, functioning as a ligand for the urokinase plasminogen activator surface receptor and promoting synapse formation, angiogenesis, and cellular migration. Mutations cause X-linked rolandic epilepsy with impaired intellectual development and speech dyspraxia, typically affecting the perisylvian brain region critical for language and cognitive development. This gene shows low constraint against loss-of-function variants (LOEUF 0.538), consistent with X-linked inheritance where hemizygous males are primarily affected.
Primary Disease Associations & Inheritance
Refuted — evidence has disproved this relationship
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SRPX2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools