SYTL5
synaptotagmin like 5
Summary
The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3859931 | X:37,854,327 | T/C | downstream gene variant | — |
| rs872690 | X:37,854,727 | T/C | downstream gene variant | — |
| rs760067705 | X:37,893,168 | A/G | — | uncertain significance |
| rs147486310 | X:37,913,566 | A/T | — | uncertain significance |
| rs867175501 | X:37,913,568 | C/G | — | uncertain significance |
| rs746187137 | X:37,913,572 | G/A | — | uncertain significance |
| rs1935712684 | X:37,913,605 | A/T | — | uncertain significance |
| rs1428323803 | X:37,913,624 | G/A | — | uncertain significance |
| rs144103691 | X:37,913,639 | A/G | — | likely benign |
| rs200888867 | X:37,913,641 | G/C | — | conflicting classifications of pathogenicity |
| rs1178332522 | X:37,931,373 | G/A | — | uncertain significance |
| rs141077704 | X:37,932,860 | A/G | — | uncertain significance |
| rs187576403 | X:37,932,875 | C/T | — | likely benign |
| rs1357732291 | X:37,932,908 | G/A | — | uncertain significance |
| rs150712362 | X:37,933,437 | T/G | — | — |
| rs372772017 | X:37,948,709 | G/A | — | uncertain significance |
| rs188213034 | X:37,948,742 | C/T | — | likely benign |
| rs745512937 | X:37,948,749 | C/A | — | uncertain significance |
| rs771664426 | X:37,948,752 | C/T | — | uncertain significance |
| rs773734951 | X:37,948,764 | G/A | — | uncertain significance |
| rs199844098 | X:37,948,836 | G/A | — | uncertain significance |
| rs371645338 | X:37,953,555 | G/A | — | uncertain significance |
| rs1024581963 | X:37,953,560 | G/A | — | uncertain significance |
| rs150600953 | X:37,953,621 | G/A | — | benign |
| rs187009472 | X:37,953,630 | C/T | — | uncertain significance |
| rs760950944 | X:37,953,648 | T/C | — | uncertain significance |
| rs143034665 | X:37,953,663 | C/T | — | likely benign |
| rs765159259 | X:37,953,671 | T/C | — | uncertain significance |
| rs1403218006 | X:37,955,444 | C/T | — | uncertain significance |
| rs2519444122 | X:37,961,619 | A/G | — | likely benign |
| rs752291901 | X:37,961,635 | T/C | — | uncertain significance |
| rs763867304 | X:37,961,641 | C/T | — | uncertain significance |
| rs148783666 | X:37,961,665 | G/A | — | uncertain significance |
| rs1241950500 | X:37,965,928 | A/G | — | uncertain significance |
| rs1937224386 | X:37,965,957 | C/A | — | uncertain significance |
| rs750671871 | X:37,967,900 | G/A | — | uncertain significance |
| rs762960155 | X:37,969,647 | G/A | — | uncertain significance |
| rs201810802 | X:37,969,673 | A/T | — | uncertain significance |
| rs1048355913 | X:37,969,703 | C/A | — | uncertain significance |
| rs1026767581 | X:37,979,650 | G/A | — | uncertain significance |
| rs1210925135 | X:37,984,563 | T/A | — | likely benign |
| rs776938631 | X:37,984,642 | T/C | — | uncertain significance |
| rs760283295 | X:37,984,719 | C/A | — | uncertain significance |
| rs2519608886 | X:37,984,723 | A/G | — | uncertain significance |
| rs755489886 | X:37,985,861 | G/A | — | uncertain significance |
| rs561453489 | X:37,985,880 | A/G | — | uncertain significance |
| rs149096056 | X:37,985,894 | C/T | — | uncertain significance |
| rs143176819 | X:37,985,895 | G/A | — | conflicting classifications of pathogenicity |
| rs958747132 | X:37,985,898 | T/C | — | uncertain significance |
| rs1261685485 | X:37,985,913 | C/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.