STC2
stanniocalcin 2
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 encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]
Known Variants10 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs377333538 | 5:172,744,954 | T/C | — | uncertain significance |
| rs1762448127 | 5:172,745,211 | T/G | — | uncertain significance |
| rs143646937 | 5:172,750,223 | C/T | — | uncertain significance |
| rs764227728 | 5:172,752,908 | A/G | — | uncertain significance |
| rs376762243 | 5:172,752,951 | C/T | — | uncertain significance |
| rs370833041 | 5:172,752,966 | C/T | — | uncertain significance |
| rs114346665 | 5:172,752,982 | G/A | — | benign |
| rs148833559 | 5:172,755,066 | C/A | missense variant | — |
| rs1762574689 | 5:172,755,174 | T/G | — | uncertain significance |
| rs778989259 | 5:172,755,193 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.