STC1

Chr 8

stanniocalcin 1

Also known as: STC

NCBI Gene: 6781 ENSG00000159167 UniProt: P52823

The protein stimulates renal phosphate reabsorption and prevents hypercalcemia, functioning as a secreted glycoprotein that regulates calcium and phosphate homeostasis. Based on current evidence, no Mendelian disorders have been definitively associated with STC1 mutations. The gene shows moderate tolerance to loss-of-function variants (pLI = 0.20, LOEUF = 0.695), suggesting it may not be essential for normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The gene contains a 5' UTR rich in CAG trinucleotide repeats. The encoded protein contains 11 conserved cysteine residues and is phosphorylated by protein kinase C exclusively on its serine residues. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Overexpression of human stanniocalcin 1 in mice produces high serum phosphate levels, dwarfism, and increased metabolic rate. This gene has altered expression in hepatocellular, ovarian, and breast cancers. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.69

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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