SOCS2
suppressor of cytokine signaling 2
Summary
This gene encodes a member of the suppressor of cytokine signaling (SOCS) family. SOCS family members are cytokine-inducible negative regulators of cytokine receptor signaling via the Janus kinase/signal transducer and activation of transcription pathway (the JAK/STAT pathway). SOCS family proteins interact with major molecules of signaling complexes to block further signal transduction, in part, by proteasomal depletion of receptors or signal-transducing proteins via ubiquitination. The expression of this gene can be induced by a subset of cytokines, including erythropoietin, GM-CSF, IL10, interferon (IFN)-gamma and by cytokine receptors such as growth horomone receptor. The protein encoded by this gene interacts with the cytoplasmic domain of insulin-like growth factor-1 receptor (IGF1R) and is thought to be involved in the regulation of IGF1R mediated cell signaling. This gene has pseudogenes on chromosomes 20 and 22. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs765879875 | 12:93,966,722 | C/T | — | uncertain significance |
| rs577916903 | 12:93,966,750 | C/T | — | uncertain significance |
| rs773285786 | 12:93,966,807 | A/G | — | uncertain significance |
| rs3782415 | 12:93,967,755 | T/G | — | — |
| rs776072741 | 12:93,968,737 | G/A | — | uncertain significance |
| rs2499637747 | 12:93,968,744 | A/G | — | uncertain significance |
| rs1299521480 | 12:93,968,768 | G/A | — | uncertain significance |
| rs1954419389 | 12:93,968,828 | A/G | — | uncertain significance |
| rs142112015 | 12:93,968,831 | C/A | — | uncertain significance |
| rs1184686339 | 12:93,968,837 | C/T | — | uncertain significance |
| rs186564713 | 12:93,968,866 | A/T | — | uncertain significance |
| rs1211158149 | 12:93,968,878 | T/C | — | uncertain significance |
| rs139375613 | 12:93,968,884 | G/A | — | uncertain significance |
| rs755618401 | 12:93,968,935 | G/A | — | uncertain significance |
| rs3825199 | 12:93,976,954 | A/G | 3 prime UTR variant | — |
| rs11107116 | 12:93,978,504 | G/A | — | — |
| rs10492321 | 12:93,980,088 | T/C | — | — |
| rs7977788 | 12:93,982,332 | G/A | intergenic variant | — |
| rs7953508 | 12:93,983,554 | C/T | intergenic variant | — |
| rs7971647 | 12:93,983,854 | T/C | intergenic variant | — |
| rs6538437 | 12:93,989,735 | A/G | — | — |
| rs9634212 | 12:93,993,266 | C/A | intergenic variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.