SIRPB1
signal regulatory protein beta 1
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 was found to interact with TYROBP/DAP12, a protein bearing immunoreceptor tyrosine-based activation motifs. This protein was also reported to participate in the recruitment of tyrosine kinase SYK. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6074813 | 20:1,541,752 | G/A | — | — |
| rs960309328 | 20:1,546,824 | T/C | — | likely benign |
| rs1203069132 | 20:1,546,848 | C/T | — | uncertain significance |
| rs370255651 | 20:1,546,853 | A/G | — | uncertain significance |
| rs762397944 | 20:1,546,881 | C/T | — | likely benign |
| rs757192782 | 20:1,551,475 | C/T | — | uncertain significance |
| rs772665895 | 20:1,551,525 | T/C | — | uncertain significance |
| rs771466776 | 20:1,551,599 | C/T | — | uncertain significance |
| rs374159183 | 20:1,551,616 | C/T | — | uncertain significance |
| rs747745133 | 20:1,551,639 | G/A | — | uncertain significance |
| rs143614046 | 20:1,551,655 | G/A | — | uncertain significance |
| rs781727801 | 20:1,551,727 | C/T | — | likely benign |
| rs144175019 | 20:1,552,368 | C/T | — | uncertain significance |
| rs761652721 | 20:1,552,456 | C/A | — | uncertain significance |
| rs1446248556 | 20:1,552,468 | T/A | — | uncertain significance |
| rs777875547 | 20:1,552,490 | G/T | — | uncertain significance |
| rs145431656 | 20:1,552,519 | C/T | — | uncertain significance |
| rs140374707 | 20:1,552,528 | C/T | — | uncertain significance |
| rs776138135 | 20:1,552,543 | C/T | — | uncertain significance |
| rs201638914 | 20:1,558,986 | C/T | — | uncertain significance |
| rs142333512 | 20:1,559,033 | A/G | — | likely benign |
| rs142943219 | 20:1,559,075 | G/A | — | likely benign |
| rs747509420 | 20:1,559,085 | G/T | — | uncertain significance |
| rs139990571 | 20:1,559,110 | A/G | — | uncertain significance |
| rs111353945 | 20:1,559,116 | G/T | — | likely benign |
| rs770777016 | 20:1,559,193 | C/T | — | uncertain significance |
| rs767925870 | 20:1,559,220 | A/G | — | uncertain significance |
| rs41275424 | 20:1,559,233 | A/C | — | uncertain significance |
| rs1320613672 | 20:1,559,247 | G/A | — | uncertain significance |
| rs143134459 | 20:1,559,260 | G/A | — | uncertain significance |
| rs761288540 | 20:1,559,281 | C/A | — | uncertain significance |
| rs12480824 | 20:1,561,286 | G/T | intron variant | — |
| rs187452206 | 20:1,595,368 | G/A | intron variant | — |
| rs192022324 | 20:1,596,167 | C/T | intron variant | — |
| rs2318043 | 20:1,596,473 | A/G | intron variant | — |
| rs34600126 | 20:1,597,433 | G/T | intron variant | — |
| rs865983979 | 20:1,600,523 | C/A | — | uncertain significance |
| rs144045134 | 20:1,600,537 | C/T | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.