SPNS2

Spinster homolog 2 (Drosophila) is a protein that in humans is encoded by the SPNS2 gene.[5]

SPNS2
Identifiers
AliasesSPNS2, sphingolipid transporter 2, SLC62A2, DFNB115, SLC63A2
External IDsOMIM: 612584 MGI: 2384936 HomoloGene: 71040 GeneCards: SPNS2
Orthologs
SpeciesHumanMouse
Entrez

124976

216892

Ensembl

ENSG00000183018

ENSMUSG00000040447

UniProt

Q8IVW8

Q91VM4

RefSeq (mRNA)

NM_001124758

NM_001276383
NM_153060

RefSeq (protein)

NP_001118230

NP_001263312
NP_694700

Location (UCSC)Chr 17: 4.5 – 4.54 MbChr 11: 72.34 – 72.38 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Model organisms

Model organisms have been used in the study of SPNS2 function. A conditional knockout mouse line, called Spns2tm1a(KOMP)Wtsi[16][17] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[18][19][20]

Animals underwent a standardized phenotypic screen to determine the effects of deletion.[14][21] Twenty eight tests were carried out on homozygous mutant mice of both sex and nine significant abnormalities were observed, including an absence of pinna reflex, abnormal eye pigmentation and morphology including cataracts, decreased leukocyte cell number, abnormal brainstem auditory evoked potential, increased bone mineral content and a range of atypical peripheral blood lymphocyte parameters.[14] Males additionally displayed decreased circulating glucose and increased circulating bilirubin levels.[14]

The orthologous protein in zebrafish has been shown to transport sphingosine-1-phosphate (S1P) out of cells during vascular development, and human SPNS2 can transport S1P analogues, including the immunomodulating drug FTY720-P.[22][23]

References
  1. GRCh38: Ensembl release 89: ENSG00000183018 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000040447 - 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. "Spinster homolog 2 (Drosophila)". Retrieved 2011-12-04.
  6. "Neurological assessment data for Spns2". Wellcome Trust Sanger Institute.
  7. "Dysmorphology data for Spns2". Wellcome Trust Sanger Institute.
  8. "Eye morphology data for Spns2". Wellcome Trust Sanger Institute.
  9. "Clinical chemistry data for Spns2". Wellcome Trust Sanger Institute.
  10. "Haematology data for Spns2". Wellcome Trust Sanger Institute.
  11. "Peripheral blood lymphocytes data for Spns2". Wellcome Trust Sanger Institute.
  12. "Salmonella infection data for Spns2". Wellcome Trust Sanger Institute.
  13. "Citrobacter infection data for Spns2". Wellcome Trust Sanger Institute.
  14. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  15. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  16. "International Knockout Mouse Consortium".
  17. "Mouse Genome Informatics".
  18. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  19. Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  20. Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  21. van der Weyden L, White JK, Adams DJ, Logan DW (June 2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.
  22. Kawahara A, Nishi T, Hisano Y, Fukui H, Yamaguchi A, Mochizuki N (January 2009). "The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors". Science. 323 (5913): 524–7. Bibcode:2009Sci...323..524K. doi:10.1126/science.1167449. PMID 19074308. S2CID 44826764.
  23. Hisano Y, Kobayashi N, Kawahara A, Yamaguchi A, Nishi T (January 2011). "The sphingosine 1-phosphate transporter, SPNS2, functions as a transporter of the phosphorylated form of the immunomodulating agent FTY720". The Journal of Biological Chemistry. 286 (3): 1758–66. doi:10.1074/jbc.M110.171116. PMC 3023470. PMID 21084291.
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