SDC1
syndecan 1
Summary
The protein encoded by this gene is a transmembrane (type I) heparan sulfate proteoglycan and is a member of the syndecan proteoglycan family. The syndecans mediate cell binding, cell signaling, and cytoskeletal organization and syndecan receptors are required for internalization of the HIV-1 tat protein. The syndecan-1 protein functions as an integral membrane protein and participates in cell proliferation, cell migration and cell-matrix interactions via its receptor for extracellular matrix proteins. Altered syndecan-1 expression has been detected in several different tumor types. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode the same protein. [provided by RefSeq, Jul 2008]
Known Variants22 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs138658407 | 2:20,401,155 | G/C | 3 prime UTR variant | — |
| rs774301421 | 2:20,402,532 | C/A | — | uncertain significance |
| rs1006285002 | 2:20,402,879 | C/A | — | uncertain significance |
| rs758522580 | 2:20,402,939 | G/A | — | likely benign |
| rs2527349282 | 2:20,402,956 | T/A | — | uncertain significance |
| rs140034717 | 2:20,402,964 | G/A | — | uncertain significance |
| rs147736626 | 2:20,403,611 | G/A | — | uncertain significance |
| rs1250072685 | 2:20,403,625 | A/G | — | uncertain significance |
| rs367683710 | 2:20,403,636 | C/T | — | uncertain significance |
| rs756367157 | 2:20,403,648 | G/A | — | uncertain significance |
| rs1003399028 | 2:20,403,665 | T/C | — | likely benign |
| rs542463050 | 2:20,403,785 | G/A | — | uncertain significance |
| rs112048177 | 2:20,403,855 | C/T | — | benign |
| rs141073701 | 2:20,403,889 | A/G | — | benign |
| rs150678110 | 2:20,403,957 | C/T | — | benign |
| rs2230922 | 2:20,403,974 | G/A | — | benign |
| rs1342798163 | 2:20,403,981 | T/C | — | uncertain significance |
| rs141315088 | 2:20,403,998 | G/A | — | benign |
| rs777304384 | 2:20,404,013 | G/A | — | likely benign |
| rs750142000 | 2:20,405,124 | T/C | — | uncertain significance |
| rs3771233 | 2:20,416,048 | A/G | intron variant | — |
| rs1677939260 | 2:20,424,591 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.