SIGLEC8
sialic acid binding Ig like lectin 8
Summary
Sialic acid-binding immunoglobulin (Ig)-like lectins, or SIGLECs (e.g., CD33 (MIM 159590)), are a family of type 1 transmembrane proteins each having a unique expression pattern, mostly in hemopoietic cells. SIGLEC8 is a member of the CD33-like subgroup of SIGLECs, which are localized to 19q13.3-q13.4 and have 2 conserved cytoplasmic tyrosine-based motifs: an immunoreceptor tyrosine-based inhibitory motif, or ITIM (see MIM 604964), and a motif homologous to one identified in signaling lymphocyte activation molecule (SLAM; MIM 603492) that mediates an association with SLAM-associated protein (SAP; MIM 300490) (summarized by Foussias et al., 2000 [PubMed 11095983]).[supplied by OMIM, May 2010]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs747089378 | 19:51,955,700 | C/T | — | uncertain significance |
| rs1718537680 | 19:51,955,742 | T/G | — | uncertain significance |
| rs2513902379 | 19:51,955,812 | C/T | — | uncertain significance |
| rs114809409 | 19:51,955,840 | A/C | — | benign |
| rs566841709 | 19:51,957,496 | C/T | — | uncertain significance |
| rs144769293 | 19:51,957,987 | C/T | — | uncertain significance |
| rs375655993 | 19:51,958,674 | G/A | — | uncertain significance |
| rs2513907685 | 19:51,958,731 | T/C | — | uncertain significance |
| rs138700631 | 19:51,958,737 | C/T | — | likely benign |
| rs775349884 | 19:51,958,743 | G/A | — | uncertain significance |
| rs373970607 | 19:51,958,765 | C/T | — | uncertain significance |
| rs779316421 | 19:51,958,833 | C/G | — | uncertain significance |
| rs2513907970 | 19:51,958,857 | G/T | — | uncertain significance |
| rs776325682 | 19:51,958,858 | G/A | — | uncertain significance |
| rs769416918 | 19:51,958,867 | T/C | — | likely benign |
| rs746929082 | 19:51,958,922 | A/T | — | uncertain significance |
| rs149444610 | 19:51,960,717 | G/A | — | benign |
| rs368784430 | 19:51,960,733 | C/T | — | likely benign |
| rs531151445 | 19:51,960,745 | T/C | — | uncertain significance |
| rs751266419 | 19:51,960,822 | A/G | — | uncertain significance |
| rs368238857 | 19:51,960,835 | G/A | — | uncertain significance |
| rs140958258 | 19:51,960,873 | A/G | — | uncertain significance |
| rs1288465824 | 19:51,960,877 | A/G | — | uncertain significance |
| rs1989530016 | 19:51,960,909 | G/T | — | uncertain significance |
| rs10409962 | 19:51,960,940 | A/G | missense variant | — |
| rs761372961 | 19:51,961,223 | T/C | — | uncertain significance |
| rs61735198 | 19:51,961,257 | C/G | — | uncertain significance |
| rs186721103 | 19:51,961,268 | C/T | — | uncertain significance |
| rs1235562597 | 19:51,961,301 | G/A | — | uncertain significance |
| rs1217862167 | 19:51,961,333 | C/A | — | uncertain significance |
| rs61735199 | 19:51,961,358 | C/T | missense variant | — |
| rs201178851 | 19:51,961,406 | A/G | — | uncertain significance |
| rs780098306 | 19:51,961,439 | C/T | — | uncertain significance |
| rs768445661 | 19:51,961,446 | A/G | — | uncertain significance |
| rs61735201 | 19:51,961,504 | G/A | — | benign |
| rs769305269 | 19:51,961,565 | C/T | — | uncertain significance |
| rs770477109 | 19:51,961,604 | C/T | — | uncertain significance |
| rs148660547 | 19:51,963,490 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.