SLAMF6
SLAM family member 6
Summary
The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs151001421 | 1:160,456,502 | C/T | — | uncertain significance |
| rs774399372 | 1:160,456,519 | G/A | — | uncertain significance |
| rs375108441 | 1:160,456,534 | G/A | — | likely benign |
| rs750231610 | 1:160,456,957 | T/A | — | uncertain significance |
| rs11265413 | 1:160,460,099 | T/A | intron variant | — |
| rs763796261 | 1:160,460,394 | A/G | — | uncertain significance |
| rs753674064 | 1:160,460,407 | C/T | — | uncertain significance |
| rs1653235544 | 1:160,460,437 | A/G | — | uncertain significance |
| rs1653235869 | 1:160,460,440 | G/T | — | uncertain significance |
| rs747168600 | 1:160,460,918 | C/T | — | likely benign |
| rs1330987694 | 1:160,460,971 | G/A | — | uncertain significance |
| rs1376951875 | 1:160,461,022 | G/T | — | uncertain significance |
| rs1324736 | 1:160,464,815 | A/G | intron variant | — |
| rs1265883 | 1:160,464,911 | C/A | intron variant | — |
| rs541546046 | 1:160,466,139 | C/T | — | uncertain significance |
| rs1268524 | 1:160,470,258 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.