SELL
selectin L
Summary
This gene encodes a cell surface adhesion molecule that belongs to a family of adhesion/homing receptors. The encoded protein contains a C-type lectin-like domain, a calcium-binding epidermal growth factor-like domain, and two short complement-like repeats. The gene product is required for binding and subsequent rolling of leucocytes on endothelial cells, facilitating their migration into secondary lymphoid organs and inflammation sites. Single-nucleotide polymorphisms in this gene have been associated with various diseases including immunoglobulin A nephropathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4140655 | 1:169,666,597 | A/T | intron variant | — |
| rs4987354 | 1:169,666,871 | C/A | intron variant | — |
| rs4987353 | 1:169,666,987 | G/A | regulatory region variant | — |
| rs4987343 | 1:169,668,856 | T/C | intron variant | — |
| rs187906519 | 1:169,670,712 | C/A | — | uncertain significance |
| rs370254126 | 1:169,670,809 | T/C | — | uncertain significance |
| rs200823767 | 1:169,670,822 | G/T | — | uncertain significance |
| rs750618231 | 1:169,672,462 | T/G | — | uncertain significance |
| rs137853581 | 1:169,672,555 | G/A | missense variant | — |
| rs766606139 | 1:169,672,563 | A/G | — | uncertain significance |
| rs2525949456 | 1:169,673,744 | A/G | — | uncertain significance |
| rs1648139925 | 1:169,673,778 | A/T | — | uncertain significance |
| rs372142577 | 1:169,673,827 | G/C | — | uncertain significance |
| rs2229569 | 1:169,673,838 | G/T | missense variant | — |
| rs2229568 | 1:169,673,874 | C/G | — | benign |
| rs574798676 | 1:169,676,485 | A/T | — | uncertain significance |
| rs1131498 | 1:169,676,486 | A/G | missense variant | — |
| rs777439951 | 1:169,676,498 | G/A | — | uncertain significance |
| rs369228328 | 1:169,676,512 | A/G | — | uncertain significance |
| rs1373046264 | 1:169,676,555 | C/G | — | uncertain significance |
| rs4987286 | 1:169,677,679 | A/G | — | benign |
| rs2525962127 | 1:169,677,747 | C/T | — | uncertain significance |
| rs770641838 | 1:169,677,857 | C/T | — | likely benign |
| rs61761863 | 1:169,677,923 | G/C | — | benign |
| rs4987279 | 1:169,679,596 | C/A | — | benign |
| rs151172043 | 1:169,680,282 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.