SRPX2

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]

SRPX2
Identifiers
AliasesSRPX2, BPP, CBPS, PMGX, RESDX, SRPUL, sushi repeat containing protein, X-linked 2, sushi repeat containing protein X-linked 2
External IDsOMIM: 300642 MGI: 1916042 HomoloGene: 8704 GeneCards: SRPX2
Orthologs
SpeciesHumanMouse
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 MbChr X: 132.81 – 132.83 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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
  1. GRCh38: Ensembl release 89: ENSG00000102359 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031253 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Kurosawa H, Goi K, Inukai T, Inaba T, Chang KS, Shinjyo T, Rakestraw KM, Naeve CW, Look AT (January 1999). "Two candidate downstream target genes for E2A-HLF". Blood. 93 (1): 321–32. doi:10.1182/blood.V93.1.321. PMID 9864177. S2CID 209307226.
  6. "Entrez Gene: SRPX2 sushi-repeat-containing protein, X-linked 2".
  7. Sia GM, Clem RL, Huganir RL (November 2013). "The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice". Science. 342 (6161): 987–91. Bibcode:2013Sci...342..987S. doi:10.1126/science.1245079. PMC 3903157. PMID 24179158.
  8. Pawłowski K, Muszewska A, Lenart A, Szczepińska T, Godzik A, Grynberg M (2010). "A widespread peroxiredoxin-like domain present in tumor suppression- and progression-implicated proteins". BMC Genomics. 11: 590. doi:10.1186/1471-2164-11-590. PMC 3091736. PMID 20964819.
  9. "OMIM Entry - # 300643 - ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX". omim.org. Retrieved 2020-01-17.

Further reading
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