SIRPA
signal regulatory protein alpha
Summary
The protein encoded by this gene is a member of the signal-regulatory-protein (SIRP) family, and also belongs to the immunoglobulin superfamily. SIRP family members are receptor-type transmembrane glycoproteins known to be involved in the negative regulation of receptor tyrosine kinase-coupled signaling processes. This protein can be phosphorylated by tyrosine kinases. The phospho-tyrosine residues of this PTP have been shown to recruit SH2 domain containing tyrosine phosphatases (PTP), and serve as substrates of PTPs. This protein was found to participate in signal transduction mediated by various growth factor receptors. CD47 has been demonstrated to be a ligand for this receptor protein. This gene and its product share very high similarity with several other members of the SIRP family. These related genes are located in close proximity to each other on chromosome 20p13. Multiple alternatively spliced transcript variants have been determined for this gene. [provided by RefSeq, Jul 2008]
Known Variants63 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs76991189 | 20:1,872,977 | T/C | upstream gene variant | — |
| rs140683846 | 20:1,877,887 | C/A | intron variant | — |
| rs192423614 | 20:1,880,319 | G/T | intron variant | — |
| rs6045318 | 20:1,883,451 | A/G | intron variant | — |
| rs6081095 | 20:1,884,129 | C/T | — | — |
| rs1569960 | 20:1,893,121 | G/A | regulatory region variant | — |
| rs6075339 | 20:1,894,315 | C/T | intron variant | — |
| rs56301259 | 20:1,894,606 | C/G | — | — |
| rs112203261 | 20:1,895,621 | C/A | intron variant | — |
| rs17855611 | 20:1,895,826 | G/A | missense variant | — |
| rs539268857 | 20:1,895,885 | C/T | — | uncertain significance |
| rs1057114 | 20:1,895,889 | G/C | missense variant | — |
| rs138711836 | 20:1,896,018 | C/T | — | likely benign |
| rs6136377 | 20:1,896,288 | A/G | intron variant | — |
| rs181608600 | 20:1,896,299 | G/T | intron variant | — |
| rs4813330 | 20:1,897,407 | A/C | — | — |
| rs139205775 | 20:1,899,826 | C/A | intron variant | — |
| rs532628857 | 20:1,902,074 | C/T | — | uncertain significance |
| rs202077577 | 20:1,902,091 | C/G | — | likely benign |
| rs2514231782 | 20:1,902,100 | G/C | — | uncertain significance |
| rs749303552 | 20:1,902,115 | G/A | — | likely benign |
| rs768027007 | 20:1,902,191 | C/G | — | uncertain significance |
| rs115894672 | 20:1,902,205 | G/A | — | benign |
| rs556014813 | 20:1,902,217 | G/A | — | uncertain significance |
| rs188077907 | 20:1,902,241 | G/A | — | benign |
| rs201193311 | 20:1,902,262 | G/A | — | uncertain significance |
| rs143385810 | 20:1,902,268 | G/C | — | uncertain significance |
| rs373611629 | 20:1,902,352 | A/G | — | uncertain significance |
| rs149287513 | 20:1,902,364 | A/G | — | benign |
| rs1475834892 | 20:1,903,003 | A/G | — | uncertain significance |
| rs2514235501 | 20:1,903,009 | G/T | — | uncertain significance |
| rs777166825 | 20:1,903,046 | A/G | — | uncertain significance |
| rs746503962 | 20:1,903,061 | C/G | — | uncertain significance |
| rs558867758 | 20:1,903,091 | C/T | — | uncertain significance |
| rs746410414 | 20:1,903,112 | C/T | — | uncertain significance |
| rs761882921 | 20:1,903,138 | T/A | — | uncertain significance |
| rs370533198 | 20:1,903,175 | G/C | — | uncertain significance |
| rs1985727379 | 20:1,903,189 | C/G | — | uncertain significance |
| rs200179222 | 20:1,903,229 | G/C | — | likely benign |
| rs192696489 | 20:1,903,263 | G/A | — | likely benign |
| rs113658773 | 20:1,903,275 | C/T | — | benign |
| rs12479917 | 20:1,904,297 | T/A | — | — |
| rs117750043 | 20:1,905,076 | C/T | intron variant | — |
| rs375872863 | 20:1,905,429 | A/C | — | uncertain significance |
| rs181742590 | 20:1,905,436 | A/T | — | uncertain significance |
| rs140079423 | 20:1,905,502 | G/A | — | uncertain significance |
| rs185308002 | 20:1,905,670 | C/T | regulatory region variant | — |
| rs562732426 | 20:1,908,272 | G/A | — | — |
| rs1349834945 | 20:1,908,530 | C/T | — | uncertain significance |
| rs73069298 | 20:1,908,858 | C/T | intron variant | — |
| rs753660710 | 20:1,918,062 | A/G | — | uncertain significance |
| rs143207818 | 20:1,918,079 | G/A | — | benign |
| rs370724960 | 20:1,918,087 | C/G | — | uncertain significance |
| rs200783814 | 20:1,918,088 | G/A | — | likely benign |
| rs201723861 | 20:1,918,091 | G/A | — | likely benign |
| rs769969115 | 20:1,918,095 | G/A | — | uncertain significance |
| rs1986649118 | 20:1,918,098 | A/G | — | uncertain significance |
| rs201731716 | 20:1,918,123 | T/G | — | uncertain significance |
| rs41278990 | 20:1,918,143 | C/T | — | likely benign |
| rs781656196 | 20:1,918,156 | C/T | — | uncertain significance |
| rs368388982 | 20:1,918,194 | G/A | — | uncertain significance |
| rs372228659 | 20:1,918,195 | T/C | — | uncertain significance |
| rs3197744 | 20:1,918,487 | G/T | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.