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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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SRPX2
sushi repeat containing protein X-linked 2
Chromosome X Β· Xq22.1
NCBI Gene: 27286Ensembl: ENSG00000102359.9HGNC: HGNC:30668UniProt: O60687
35PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
signaling receptor bindingprotein bindinghepatocyte growth factor bindingidentical protein bindingRolandic epilepsy - speech dyspraxiarolandic epilepsy-speech dyspraxia syndromeepilepsyosteoarthritis
✦AI Summary

SRPX2 (sushi repeat containing protein X-linked 2) encodes a secreted glycoprotein that plays critical roles in neuronal development and synaptogenesis. The protein acts as a synaptogenic factor that specifically promotes excitatory synapse formation in the cerebral cortex, with SRPX2 knockout mice showing reduced VGlut2 excitatory synapses while VGlut1 and inhibitory synapses remain largely unaffected 1. SRPX2 functions downstream of the FoxP2 transcription factor, which regulates SRPX2 expression levels to modulate synapse formation 2. The protein contains sushi repeat domains and acts as a ligand for the urokinase plasminogen activator surface receptor, participating in cellular processes including migration, adhesion, and angiogenesis. Beyond synaptogenesis, SRPX2 is involved in stem cell differentiation through the calcineurin A gamma/NFATc3/SRPX2 signaling axis 3 and plays roles in pathological processes, including fibroblast-to-myofibroblast transition in pulmonary fibrosis 4 and autophagy-mediated chemoresistance in colorectal cancer 5. Clinically, SRPX2 mutations are associated with X-linked developmental disorders including Rolandic epilepsy, intellectual disability, and speech dyspraxia 6. The gene has undergone human-specific evolution, with a fixed R75K substitution in the functional sushi domain since the human-chimpanzee split 7, highlighting its potential importance in human brain development and language circuits.

Sources cited
1
SRPX2 knockout mice show specific reduction in VGlut2 excitatory synapses while other synapse types remain unaffected
PMID: 29920554
2
SRPX2 is a synaptogenic factor regulated by FoxP2 that promotes synapse formation and affects vocalization
PMID: 24179158
3
SRPX2 functions in the calcineurin A gamma/NFATc3/SRPX2 axis controlling stem cell differentiation
PMID: 33393109
4
SRPX2 is involved in fibroblast-to-myofibroblast transition in pulmonary fibrosis
PMID: 34093874
5
SRPX2 participates in autophagy-mediated chemoresistance in colorectal cancer
PMID: 39333496
6
SRPX2 mutations are associated with language delay, motor delay, and intellectual disability
PMID: 30393191
7
SRPX2 underwent human-specific evolution with R75K substitution in the sushi domain
PMID: 17942002
Disease Associationsβ“˜21
Rolandic epilepsy - speech dyspraxiaOpen Targets
0.55Moderate
rolandic epilepsy-speech dyspraxia syndromeOpen Targets
0.37Weak
epilepsyOpen Targets
0.12Weak
osteoarthritisOpen Targets
0.11Weak
papillary thyroid carcinomaOpen Targets
0.09Suggestive
pachyonychia congenitaOpen Targets
0.09Suggestive
pulmonary fibrosisOpen Targets
0.08Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
melanomaOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
osteosarcomaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
central nervous system cancerOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
thyroid cancerOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.05Suggestive
pseudohypoparathyroidism type 2Open Targets
0.04Suggestive
gastric cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linkedUniProt
Pathogenic Variants2
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter)Pathogenic
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked
β˜…β˜†β˜†β˜†2020β†’ Residue 395
NM_014467.3(SRPX2):c.718C>T (p.Arg240Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 240
View on ClinVar β†—
Related Genes
PLAUProtein interaction88%PLAURProtein interaction88%HLFProtein interaction76%TCF3Protein interaction76%ANXA8Protein interaction72%ADAMTS4Protein interaction70%
Tissue Expression6 tissues
Heart
100%
Lung
78%
Ovary
65%
Liver
29%
Brain
5%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
SRPX2PLAUPLAURHLFTCF3ANXA8ADAMTS4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60687
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.80LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.57 [0.42–0.80]
RankingsWhere SRPX2 stands among ~20K protein-coding genes
  • #11,075of 20,598
    Most Researched35
  • #4,488of 5,498
    Most Pathogenic Variants2
  • #6,588of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedSRPX2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Calcineurin A gamma and NFATc3/SRPX2 axis contribute to human embryonic stem cell differentiation.
PMID: 33393109
J Cell Physiol Β· 2021
1.00
2
Local administration of liposomal-based Srpx2 gene therapy reverses pulmonary fibrosis by blockading fibroblast-to-myofibroblast transition.
PMID: 34093874
Theranostics Β· 2021
0.90
3
CircSEC24B activates autophagy and induces chemoresistance of colorectal cancer via OTUB1-mediated deubiquitination of SRPX2.
PMID: 39333496
Cell Death Dis Β· 2024
0.80
4
Neuronal migration disorders.
PMID: 19245832
Neurobiol Dis Β· 2010
0.70
5
Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?
PMID: 30393191
Gene Β· 2019
0.60