SEPHS2

Chr 16

selenophosphate synthetase 2

Also known as: SPS2

NCBI Gene: 22928 ENSG00000179918 UniProt: Q99611

The protein is a selenophosphate synthase that generates the selenium donor required for selenocysteine biosynthesis, catalyzing the formation of selenophosphate from selenide and ATP. Mutations cause autosomal recessive pontocerebellar hypoplasia type 2D, a severe neurodevelopmental disorder affecting the brainstem and cerebellum. The gene shows minimal constraint to loss-of-function variants (pLI 0.002, LOEUF 0.998), which is consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq, UniProt

This gene encodes an enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.00

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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