MTUS1
microtubule associated scaffold protein 1
Summary
This gene encodes a protein which contains a C-terminal domain able to interact with the angiotension II (AT2) receptor and a large coiled-coil region allowing dimerization. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. One of the transcript variants has been shown to encode a mitochondrial protein that acts as a tumor suppressor and partcipates in AT2 signaling pathways. Other variants may encode nuclear or transmembrane proteins but it has not been determined whether they also participate in AT2 signaling pathways. [provided by RefSeq, Jul 2008]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2486318154 | 8:17,503,449 | T/C | — | likely benign |
| rs760024677 | 8:17,503,460 | G/C | — | uncertain significance |
| rs202148873 | 8:17,503,464 | A/G | — | uncertain significance |
| rs1407344209 | 8:17,503,467 | A/G | — | uncertain significance |
| rs1333516757 | 8:17,503,543 | G/C | — | uncertain significance |
| rs780526153 | 8:17,503,605 | T/C | — | uncertain significance |
| rs545928783 | 8:17,510,350 | A/G | — | — |
| rs2486429229 | 8:17,510,720 | C/G | — | uncertain significance |
| rs1807416877 | 8:17,510,724 | T/C | — | uncertain significance |
| rs61733705 | 8:17,510,766 | C/G | — | likely benign |
| rs201830393 | 8:17,510,780 | T/C | — | likely benign |
| rs201400993 | 8:17,510,784 | T/C | — | uncertain significance |
| rs756186163 | 8:17,510,941 | G/A | — | uncertain significance |
| rs780583170 | 8:17,510,974 | G/A | — | uncertain significance |
| rs1162819007 | 8:17,512,076 | G/C | — | uncertain significance |
| rs745458657 | 8:17,512,082 | C/T | — | likely benign |
| rs575683061 | 8:17,512,169 | T/G | — | uncertain significance |
| rs201616590 | 8:17,513,412 | A/G | — | uncertain significance |
| rs61733708 | 8:17,513,484 | T/C | — | benign |
| rs373832107 | 8:17,513,490 | T/C | — | uncertain significance |
| rs534021753 | 8:17,513,508 | G/A | — | uncertain significance |
| rs3862091 | 8:17,531,189 | G/A | intron variant | — |
| rs760758399 | 8:17,532,733 | G/C | — | uncertain significance |
| rs374398513 | 8:17,532,740 | G/C | — | uncertain significance |
| rs201847623 | 8:17,541,880 | T/G | — | uncertain significance |
| rs368209779 | 8:17,541,904 | T/C | — | uncertain significance |
| rs772507766 | 8:17,541,968 | G/A | — | uncertain significance |
| rs184063444 | 8:17,541,990 | A/T | — | uncertain significance |
| rs1815324679 | 8:17,541,991 | T/C | — | uncertain significance |
| rs201957190 | 8:17,542,007 | G/A | — | uncertain significance |
| rs17125115 | 8:17,542,060 | C/T | — | benign |
| rs763713967 | 8:17,570,732 | G/C | — | uncertain significance |
| rs766109786 | 8:17,573,341 | C/G | — | uncertain significance |
| rs2487404479 | 8:17,573,353 | T/C | — | uncertain significance |
| rs373040921 | 8:17,573,376 | T/A | — | uncertain significance |
| rs200171947 | 8:17,601,248 | C/T | — | likely benign |
| rs752316681 | 8:17,605,814 | C/T | — | — |
| rs144780663 | 8:17,611,387 | T/G | — | likely benign |
| rs781505431 | 8:17,611,436 | G/A | — | likely benign |
| rs202218163 | 8:17,611,522 | G/A | — | uncertain significance |
| rs209569 | 8:17,611,593 | T/C | — | benign |
| rs772277578 | 8:17,611,882 | A/T | — | uncertain significance |
| rs75253845 | 8:17,612,064 | A/C | — | benign |
| rs770864042 | 8:17,612,239 | T/C | — | uncertain significance |
| rs41528945 | 8:17,612,345 | T/A | — | benign |
| rs375637734 | 8:17,612,440 | T/C | — | uncertain significance |
| rs2486340468 | 8:17,612,548 | C/G | — | uncertain significance |
| rs551065194 | 8:17,612,572 | C/T | — | uncertain significance |
| rs377602735 | 8:17,612,670 | G/A | — | likely benign |
| rs201101994 | 8:17,612,874 | C/T | — | uncertain significance |
| rs61733703 | 8:17,613,094 | G/T | — | benign |
| rs373018988 | 8:17,613,098 | G/C | — | uncertain significance |
| rs769207264 | 8:17,613,237 | T/C | — | uncertain significance |
| rs530281354 | 8:17,644,692 | C/G | — | — |
| rs144214312 | 8:17,645,657 | T/A | — | — |
| rs142323734 | 8:17,658,751 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.