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


Model organisms

Model organism A model organism (often shortened to model) is a non-human species that is extensively studied to understand particular biological phenomena, with the expectation that discoveries made in the model organism will provide insight into the workin ...
s have been used in the study of SPNS2 function. A conditional knockout mouse line, called ''Spns2tm1a(KOMP)Wtsi'' was generated as part of the
International Knockout Mouse Consortium The International Knockout Mouse Consortium (IKMC) is a scientific endeavour to produce a collection of mouse embryonic stem cell lines that together lack every gene in the genome, and then to distribute the cells to scientific researchers to crea ...
program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Animals underwent a standardized phenotypic screen to determine the effects of deletion. 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 The posterior auricular muscle is a muscle behind the auricle of the outer ear. It arises from the mastoid part of the temporal bone, and inserts into the lower part of the cranial surface of the auricle of the outer ear. It draws the auricle ...
, 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. Males additionally displayed decreased circulating glucose and increased circulating
bilirubin Bilirubin (BR) (Latin for "red bile") is a red-orange compound that occurs in the normal catabolic pathway that breaks down heme in vertebrates. This catabolism is a necessary process in the body's clearance of waste products that arise from the ...
levels. 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.


References

Human proteins Genes mutated in mice {{gene-17-stub