STC1
stanniocalcin 1
Summary
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]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2486656653 | 8:23,702,295 | A/T | — | likely benign |
| rs778531998 | 8:23,702,306 | G/A | — | uncertain significance |
| rs766303009 | 8:23,702,384 | G/A | — | uncertain significance |
| rs1802554577 | 8:23,702,479 | A/T | — | uncertain significance |
| rs1347548 | 8:23,706,901 | C/T | intron variant | — |
| rs186260860 | 8:23,708,899 | C/T | — | uncertain significance |
| rs2486666275 | 8:23,708,933 | G/C | — | uncertain significance |
| rs146703503 | 8:23,709,002 | C/T | — | uncertain significance |
| rs1453610865 | 8:23,709,833 | T/G | — | uncertain significance |
| rs149219986 | 8:23,711,975 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.