SRPX2: Sushi Repeat Containing Protein X-Linked 2
A key gene in rolandic epilepsy, speech apraxia, and neurodevelopmental disorders
Gene Information Card
| Symbol | SRPX2 |
|---|---|
| Full Name | Sushi Repeat Containing Protein X-Linked 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.1 |
| NCBI Gene ID | 27286 ncbi.nlm.nih.gov/gene/27286 |
| Ensembl ID | ENSG00000102393 |
| UniProt ID | O60687 |
| OMIM ID | 300642 |
| HGNC ID | 30668 |
| Aliases | SRPUL, FLJ11218, SRPX2 |
Description
SRPX2 (Sushi Repeat Containing Protein X-Linked 2) encodes a secreted protein containing sushi (complement control protein) domains. It is involved in cell adhesion, neuronal migration, and synaptogenesis. Mutations in SRPX2 are associated with rolandic epilepsy, speech apraxia, and perisylvian polymicrogyria, highlighting its role in cortical development and language function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rolandic epilepsy with speech dyspraxia | Missense mutations (p.N327S, p.Y72S) disrupt protein function, impairing neuronal migration and synaptic plasticity | ClinVar, OMIM #300643 |
| Perisylvian polymicrogyria | Loss-of-function variants lead to abnormal cortical folding and neuronal migration defects | OMIM #300643, NCBI |
| X-linked intellectual disability | SRPX2 mutations contribute to cognitive impairment through altered synaptic signaling | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Heart | 6.1 | Low |
| Kidney | 5.4 | Low |
| Liver | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | Neuronal model |
| HEK293 (embryonic kidney) | 9.7 | High transfection efficiency |
| U87MG (glioblastoma) | 11.2 | Glial expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.980A>G (p.N327S) | Missense | Rare | Impaired protein secretion and cell adhesion |
| c.215A>C (p.Y72S) | Missense | Rare | Reduced sushi domain stability |
| c.1A>G (p.M1?) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (p.N327S, p.Y72S) reduce protein secretion and cell adhesion, leading to loss of normal function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; SRPX2 mutations are typically hemizygous in males due to X-linkage.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • synaptic signaling (GO:0099536) |
| • neuronal migration (GO:0001764) | • extracellular region (GO:0005576) |
| • protein binding (GO:0005515) |
Pathways
• Cell adhesion molecules (CAMs)
• Axon guidance
Protein Summary
SRPX2 is a 465-amino acid secreted glycoprotein with two sushi domains (complement control protein repeats). It localizes to the extracellular matrix and promotes cell-cell adhesion, neurite outgrowth, and synapse formation. In the brain, it is highly expressed in the perisylvian region and modulates glutamatergic signaling. Mutations cause protein misfolding and impaired secretion, leading to neurodevelopmental disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SRPX2 Knockout HEK293 Cell Line | EDJ-KQ14736 | Human | 27286 | Details Get a Quote |
| SRPX2 Knockout A-549 Cell Line | EDJ-KQ17923 | Human | 27286 | Details Get a Quote |
| SRPX2 Knockout HCT 116 Cell Line | EDJ-KQ46322 | Human | 27286 | Details Get a Quote |
| SRPX2 Knockout HeLa Cell Line | EDJ-KQ56046 | Human | 27286 | Details Get a Quote |
