SRPX2

SRPX2
Identifiers
Aliases	SRPX2, BPP, CBPS, PMGX, RESDX, SRPUL, sushi repeat containing protein, X-linked 2, sushi repeat containing protein X-linked 2
External IDs	OMIM: 300642; MGI: 1916042; HomoloGene: 8704; GeneCards: SRPX2; OMA:SRPX2 - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq22.1 Start 100,644,195 bp[1] End 100,675,788 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X|X E3 Start 132,809,175 bp[2] End 132,833,195 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in stromal cell of endometrium Achilles tendon cartilage tissue sural nerve tendon of biceps brachii subcutaneous adipose tissue right lung left ovary pericardium right ovary Top expressed in calvaria body of femur stroma of bone marrow lower jaw interventricular septum membranous bone mandible endothelial cell of lymphatic vessel maxilla embryo More reference expression data BioGPS More reference expression data
Gene ontology Molecular function hepatocyte growth factor binding signaling receptor binding protein binding identical protein binding extracellular matrix structural constituent Cellular component extracellular region cell junction synapse cell surface cytoplasm excitatory synapse synaptic membrane extracellular space collagen-containing extracellular matrix Biological process regulation of phosphorylation vocalization behavior cell adhesion angiogenesis positive regulation of cell migration involved in sprouting angiogenesis positive regulation of synapse assembly cell motility cell-cell adhesion Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 27286 68792 Ensembl ENSG00000102359 ENSMUSG00000031253 UniProt O60687 Q8R054 RefSeq (mRNA) NM_014467 NM_001083895 NM_026838 RefSeq (protein) NP_055282 NP_001077364 NP_081114 Location (UCSC) Chr X: 100.64 – 100.68 Mb Chr X: 132.81 – 132.83 Mb PubMed search [3] [4]
Wikidata
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Sushi repeat-containing protein SRPX2 is a protein that in humans is encoded by the SRPX2 gene, on the X chromosome.^[5][6] It has roles in glutamatergic synapse formation in the cerebral cortex and is more highly expressed in childhood.^[7] Bioinformatics analysis suggests the SRPX2 protein is a peroxiredoxin.^[8]

Function

SRPX2 is distributed on synapses throughout the cerebral cortex and hippocampus, largely in the same areas as vesicular glutamate transporter 1 and DLG4. It is involved in synapse formation and is more highly expressed in childhood. Overexpression of SRPX2 results in increased density of vesicular glutamate transporter 1 and DLG4 clusters on cortical neurons. Deficiency results in decreased dendritic spine density of excitatory glutamatergic synapses, while inhibitory GABAergic synapses are unaffected. Length or shape of spines is not affected by SPRX2, however.^[7]

Clinical significance

Mutations in SRPX2 were linked in one 2006 study to a family with a form of Rolandic epilepsy with intellectual disability and speech dyspraxia, however later studies showed that mutations in SRPX2 do not necessarily lead to epilepsy or intellectual disability. Additionally, no mutations in SRPX2 have been reported with Rolandic epilepsy since.^[9] In mice, mutations in SRPX2 lead to decreased frequency of ultrasonic vocalisations in pups when separated from mothers.^[7]

Interactions

FOXP2 directly reduces SRPX2 expression, by binding to its promoter. However, FOXP2 also reduces dendritic length, which SRPX2 does not affect, indicating it has other regulatory roles in dendritic morphology.^[7]

References

Further reading