THBS3
thrombospondin 3
Summary
The protein encoded by this gene belongs to the thrombospondin family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentameric molecule linked by a single disulfide bond. This gene shares a common promoter with metaxin 1. Alternate splicing results in coding and non-coding transcript variants. [provided by RefSeq, Nov 2011]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1266800056 | 1:155,165,660 | C/T | — | uncertain significance |
| rs2527117621 | 1:155,165,791 | C/G | — | uncertain significance |
| rs374746868 | 1:155,165,867 | A/G | — | uncertain significance |
| rs1235555031 | 1:155,165,916 | C/T | — | uncertain significance |
| rs372583353 | 1:155,166,872 | G/A | — | uncertain significance |
| rs200430187 | 1:155,166,904 | C/T | — | uncertain significance |
| rs201608649 | 1:155,166,925 | C/T | — | uncertain significance |
| rs2527150016 | 1:155,167,001 | C/G | — | uncertain significance |
| rs2527161393 | 1:155,167,276 | G/A | — | uncertain significance |
| rs144647693 | 1:155,167,337 | C/T | — | uncertain significance |
| rs746772876 | 1:155,167,346 | G/T | — | uncertain significance |
| rs965979323 | 1:155,167,856 | G/C | — | uncertain significance |
| rs373078740 | 1:155,167,889 | C/T | — | uncertain significance |
| rs1324276110 | 1:155,167,904 | C/A | — | uncertain significance |
| rs1669010167 | 1:155,167,958 | C/G | — | uncertain significance |
| rs374815652 | 1:155,168,003 | C/T | — | uncertain significance |
| rs760040711 | 1:155,168,011 | C/T | — | uncertain significance |
| rs150766484 | 1:155,168,235 | C/T | — | uncertain significance |
| rs374362349 | 1:155,168,329 | C/T | — | uncertain significance |
| rs544886839 | 1:155,168,842 | T/G | — | — |
| rs2974937 | 1:155,168,849 | C/G | — | — |
| rs7366775 | 1:155,168,930 | G/C | — | — |
| rs193041782 | 1:155,169,061 | C/T | downstream gene variant | — |
| rs423144 | 1:155,169,355 | G/C | — | — |
| rs1255949054 | 1:155,169,798 | G/T | — | uncertain significance |
| rs1202974505 | 1:155,169,855 | C/G | — | uncertain significance |
| rs961947065 | 1:155,169,895 | T/C | — | uncertain significance |
| rs762403494 | 1:155,170,254 | C/T | — | uncertain significance |
| rs781000315 | 1:155,170,308 | T/C | — | uncertain significance |
| rs199935580 | 1:155,170,392 | G/A | missense variant | — |
| rs373365247 | 1:155,170,749 | T/C | — | uncertain significance |
| rs193920931 | 1:155,170,885 | C/A | — | uncertain significance |
| rs766391812 | 1:155,170,913 | C/T | — | uncertain significance |
| rs147720217 | 1:155,171,230 | C/T | — | uncertain significance |
| rs147969850 | 1:155,171,294 | C/T | — | uncertain significance |
| rs1473356864 | 1:155,171,347 | C/T | — | uncertain significance |
| rs374545599 | 1:155,172,087 | C/G | — | uncertain significance |
| rs746127153 | 1:155,172,110 | C/T | — | uncertain significance |
| rs142608917 | 1:155,172,183 | C/T | — | uncertain significance |
| rs1242486787 | 1:155,172,650 | G/A | — | uncertain significance |
| rs758564002 | 1:155,172,664 | C/T | — | uncertain significance |
| rs764007122 | 1:155,172,882 | A/G | — | uncertain significance |
| rs2527372510 | 1:155,173,040 | C/T | — | uncertain significance |
| rs2527372577 | 1:155,173,043 | C/T | — | uncertain significance |
| rs751498996 | 1:155,173,328 | T/C | — | uncertain significance |
| rs67579710 | 1:155,173,527 | G/A | upstream gene variant | — |
| rs189907152 | 1:155,174,655 | G/A | — | uncertain significance |
| rs757009757 | 1:155,174,670 | C/T | — | uncertain significance |
| rs1188109751 | 1:155,174,904 | C/T | — | uncertain significance |
| rs2527430450 | 1:155,174,970 | A/G | — | uncertain significance |
| rs370545 | 1:155,175,390 | A/T | — | — |
| rs748690106 | 1:155,176,018 | C/T | — | uncertain significance |
| rs199898512 | 1:155,176,032 | G/A | — | uncertain significance |
| rs2527458301 | 1:155,176,037 | G/C | — | uncertain significance |
| rs369537081 | 1:155,176,045 | G/A | — | uncertain significance |
| rs776632948 | 1:155,176,050 | T/C | — | uncertain significance |
| rs143240289 | 1:155,176,111 | T/A | — | uncertain significance |
| rs771832849 | 1:155,176,137 | C/G | — | uncertain significance |
| rs201765748 | 1:155,176,151 | C/G | — | likely benign |
| rs759670617 | 1:155,176,170 | G/A | — | uncertain significance |
| rs770893027 | 1:155,177,646 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.