S100P

Chr 4

S100 calcium binding protein P

Also known as: MIG9

NCBI Gene: 6286 ENSG00000163993 UniProt: P25815 OMIM: 600614

S100P encodes a calcium-binding protein that functions as a calcium sensor and contributes to cellular calcium signaling, also binding zinc and magnesium ions and playing roles in microvilli formation and cell proliferation. The gene shows low constraint to loss-of-function variants (pLI 0.03, LOEUF 1.82), and no established Mendelian diseases have been definitively linked to S100P mutations in pediatric patients.

OMIM ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.82

LOEUF

Multiple*

Mechanism· predicted