SRPX2

Chr X

sushi repeat containing protein X-linked 2

Also known as: BPP, CBPS, PMGX, RESDX, SRPUL

NCBI Gene: 27286 ENSG00000102359 UniProt: O60687

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, May 2010]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked

Clinical highlights

Gene-disease validity (ClinGen)

epilepsy · XLRefutedevidence has disproved this relationship

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

Mechanism· predicted

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GeneReview available — SRPX2

Authoritative clinical overview · Recommended first read