CST5
cystatin D
Summary
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201737711 | 20:23,856,836 | G/A | — | uncertain significance |
| rs2514870459 | 20:23,856,870 | C/G | — | uncertain significance |
| rs2514870515 | 20:23,856,903 | C/G | — | uncertain significance |
| rs368805196 | 20:23,858,149 | A/G | — | uncertain significance |
| rs41282292 | 20:23,858,200 | G/A | — | uncertain significance |
| rs149503666 | 20:23,858,216 | C/T | missense variant | — |
| rs759047136 | 20:23,858,240 | T/G | — | uncertain significance |
| rs775178646 | 20:23,858,248 | C/A | — | uncertain significance |
| rs750778946 | 20:23,858,254 | A/C | — | uncertain significance |
| rs192935687 | 20:23,859,050 | G/A | regulatory region variant | — |
| rs1986035423 | 20:23,860,090 | T/A | — | uncertain significance |
| rs773934029 | 20:23,860,112 | G/T | — | uncertain significance |
| rs751792054 | 20:23,860,142 | C/T | — | uncertain significance |
| rs767253328 | 20:23,860,153 | T/G | — | uncertain significance |
| rs777095406 | 20:23,860,177 | C/A | — | uncertain significance |
| rs773285104 | 20:23,860,207 | G/A | — | uncertain significance |
| rs547813815 | 20:23,860,213 | A/G | — | uncertain significance |
| rs541638885 | 20:23,860,223 | C/T | — | uncertain significance |
| rs1276663775 | 20:23,860,247 | C/T | — | uncertain significance |
| rs148735044 | 20:23,861,596 | A/G | upstream gene variant | — |
| rs4075883 | 20:23,862,056 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.