THBS4
thrombospondin 4
Summary
The protein encoded by this gene belongs to the thrombospondin protein family. Thrombospondin family members are adhesive glycoproteins that mediate cell-to-cell and cell-to-matrix interactions. This protein forms a pentamer and can bind to heparin and calcium. It is involved in local signaling in the developing and adult nervous system, and it contributes to spinal sensitization and neuropathic pain states. This gene is activated during the stromal response to invasive breast cancer. It may also play a role in inflammatory responses in Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Known Variants76 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs553421995 | 5:79,286,894 | C/A | regulatory region variant | — |
| rs138675089 | 5:79,322,553 | C/T | intron variant | — |
| rs190441871 | 5:79,325,417 | C/T | downstream gene variant | — |
| rs17878919 | 5:79,329,538 | A/G | upstream gene variant | — |
| rs749448595 | 5:79,331,443 | C/G | — | uncertain significance |
| rs756441727 | 5:79,335,902 | T/C | — | uncertain significance |
| rs150862893 | 5:79,335,944 | G/A | — | uncertain significance |
| rs1249586147 | 5:79,335,957 | T/C | — | uncertain significance |
| rs139299549 | 5:79,335,969 | C/T | — | uncertain significance |
| rs761263904 | 5:79,335,990 | T/G | — | uncertain significance |
| rs2530907439 | 5:79,336,011 | A/G | — | uncertain significance |
| rs368287 | 5:79,351,140 | G/T | intron variant | — |
| rs144319149 | 5:79,351,610 | A/G | — | uncertain significance |
| rs369263489 | 5:79,351,616 | C/T | — | uncertain significance |
| rs2530949286 | 5:79,351,703 | A/G | — | uncertain significance |
| rs17882513 | 5:79,351,738 | A/G | — | benign |
| rs765249108 | 5:79,351,790 | G/A | — | uncertain significance |
| rs995407653 | 5:79,351,854 | A/G | — | uncertain significance |
| rs447875 | 5:79,351,860 | G/A | splice region variant | — |
| rs368948777 | 5:79,354,032 | T/C | — | uncertain significance |
| rs151176433 | 5:79,354,110 | A/T | — | uncertain significance |
| rs769556559 | 5:79,354,122 | G/A | — | uncertain significance |
| rs150354303 | 5:79,354,560 | A/G | — | uncertain significance |
| rs137982040 | 5:79,354,599 | C/T | — | uncertain significance |
| rs115017662 | 5:79,355,523 | G/T | — | benign |
| rs141117061 | 5:79,355,547 | C/T | — | uncertain significance |
| rs138755222 | 5:79,355,594 | C/T | — | uncertain significance |
| rs149360210 | 5:79,355,606 | C/T | — | uncertain significance |
| rs772659567 | 5:79,355,622 | C/T | — | uncertain significance |
| rs2530963268 | 5:79,355,636 | G/T | — | uncertain significance |
| rs34249634 | 5:79,355,648 | G/A | — | uncertain significance |
| rs766452699 | 5:79,357,556 | A/G | — | uncertain significance |
| rs375137091 | 5:79,357,569 | G/C | — | uncertain significance |
| rs774677560 | 5:79,357,650 | A/G | — | uncertain significance |
| rs1866389 | 5:79,361,265 | G/C | missense variant | — |
| rs767184752 | 5:79,361,266 | C/T | — | uncertain significance |
| rs755516089 | 5:79,361,281 | C/T | — | uncertain significance |
| rs2530980947 | 5:79,361,298 | T/G | — | uncertain significance |
| rs41272276 | 5:79,361,412 | T/A | — | — |
| rs771848650 | 5:79,363,823 | C/G | — | uncertain significance |
| rs17882372 | 5:79,363,860 | C/T | — | benign |
| rs565073352 | 5:79,366,138 | G/A | — | uncertain significance |
| rs150404655 | 5:79,366,228 | A/C | — | uncertain significance |
| rs371339729 | 5:79,366,538 | G/A | — | uncertain significance |
| rs373070755 | 5:79,366,568 | G/A | — | uncertain significance |
| rs777333843 | 5:79,366,844 | G/A | — | uncertain significance |
| rs1275385967 | 5:79,366,908 | C/T | — | uncertain significance |
| rs568927878 | 5:79,366,942 | C/A | missense variant | — |
| rs143241260 | 5:79,368,122 | A/G | — | uncertain significance |
| rs148589675 | 5:79,368,151 | C/T | — | uncertain significance |
| rs1834099037 | 5:79,368,218 | A/G | — | uncertain significance |
| rs769397632 | 5:79,369,141 | A/G | — | uncertain significance |
| rs745310807 | 5:79,369,143 | C/T | — | uncertain significance |
| rs2229396 | 5:79,372,721 | G/A | — | benign |
| rs747007490 | 5:79,372,766 | G/A | — | uncertain significance |
| rs1418375215 | 5:79,372,850 | C/A | — | uncertain significance |
| rs143025825 | 5:79,373,874 | G/A | — | uncertain significance |
| rs201519001 | 5:79,373,877 | G/A | — | uncertain significance |
| rs374087095 | 5:79,373,880 | G/A | — | uncertain significance |
| rs957376518 | 5:79,373,910 | C/G | — | uncertain significance |
| rs372295131 | 5:79,374,024 | G/A | — | uncertain significance |
| rs200574074 | 5:79,374,747 | A/G | — | uncertain significance |
| rs759777712 | 5:79,374,890 | A/G | — | uncertain significance |
| rs1743360786 | 5:79,374,891 | C/T | — | uncertain significance |
| rs1580993405 | 5:79,374,952 | C/A | — | uncertain significance |
| rs746452308 | 5:79,374,977 | C/G | — | uncertain significance |
| rs765588772 | 5:79,374,998 | G/A | — | uncertain significance |
| rs1743369915 | 5:79,375,028 | T/C | — | uncertain significance |
| rs533928575 | 5:79,375,783 | C/T | — | uncertain significance |
| rs372332310 | 5:79,378,272 | G/A | — | likely benign |
| rs1208357373 | 5:79,378,273 | T/G | — | uncertain significance |
| rs1255446555 | 5:79,378,285 | C/T | — | uncertain significance |
| rs373412992 | 5:79,378,335 | A/C | — | uncertain significance |
| rs146323134 | 5:79,378,947 | G/A | — | uncertain significance |
| rs866400497 | 5:79,378,955 | C/T | — | likely benign |
| rs1296228028 | 5:79,378,958 | T/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.