PILRA
paired immunoglobin like type 2 receptor alpha
Summary
Cell signaling pathways rely on a dynamic interaction between activating and inhibiting processes. SHP-1-mediated dephosphorylation of protein tyrosine residues is central to the regulation of several cell signaling pathways. Two types of inhibitory receptor superfamily members are immunoreceptor tyrosine-based inhibitory motif (ITIM)-bearing receptors and their non-ITIM-bearing, activating counterparts. Control of cell signaling via SHP-1 is thought to occur through a balance between PILRalpha-mediated inhibition and PILRbeta-mediated activation. These paired immunoglobulin-like receptor genes are located in a tandem head-to-tail orientation on chromosome 7. This particular gene encodes the ITIM-bearing member of the receptor pair, which functions in the inhibitory role. Alternative splicing has been observed at this locus and three variants, each encoding a distinct isoform, are described. [provided by RefSeq, Jul 2008]
Known Variants20 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2484783584 | 7:99,971,745 | C/T | — | uncertain significance |
| rs768049971 | 7:99,971,805 | G/A | — | likely benign |
| rs1859788 | 7:99,971,834 | A/G | — | benign |
| rs116478382 | 7:99,971,997 | G/A | missense variant | — |
| rs1176788065 | 7:99,972,026 | A/T | — | uncertain significance |
| rs545578307 | 7:99,972,044 | T/A | — | likely benign |
| rs7792525 | 7:99,972,122 | A/G | regulatory region variant | — |
| rs113202779 | 7:99,973,347 | T/G | intron variant | — |
| rs182075427 | 7:99,981,615 | G/C | intron variant | — |
| rs2484814158 | 7:99,987,632 | A/G | — | uncertain significance |
| rs35474292 | 7:99,988,813 | T/G | — | — |
| rs145267648 | 7:99,995,510 | C/T | — | uncertain significance |
| rs147584738 | 7:99,996,919 | C/T | — | uncertain significance |
| rs1399050357 | 7:99,996,934 | A/G | — | uncertain significance |
| rs201639628 | 7:99,996,946 | A/C | — | uncertain significance |
| rs201973358 | 7:99,997,420 | G/A | — | uncertain significance |
| rs141345166 | 7:99,997,501 | G/A | — | uncertain significance |
| rs368207858 | 7:99,997,516 | G/A | — | uncertain significance |
| rs2484838781 | 7:99,997,524 | G/C | — | uncertain significance |
| rs185470895 | 7:99,997,722 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.