CD47
CD47 molecule
Summary
This gene encodes a membrane protein, which is involved in the increase in intracellular calcium concentration that occurs upon cell adhesion to extracellular matrix. The encoded protein is also a receptor for the C-terminal cell binding domain of thrombospondin, and it may play a role in membrane transport and signal transduction. This gene has broad tissue distribution, and is reduced in expression on Rh erythrocytes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
Known Variants14 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2472288894 | 3:107,768,477 | A/C | — | uncertain significance |
| rs2472288909 | 3:107,768,486 | G/A | — | uncertain significance |
| rs1301380986 | 3:107,776,396 | G/C | — | uncertain significance |
| rs1188363393 | 3:107,777,198 | C/T | — | uncertain significance |
| rs1218151856 | 3:107,777,256 | C/T | — | uncertain significance |
| rs2472316112 | 3:107,779,607 | T/G | — | uncertain significance |
| rs376846275 | 3:107,779,657 | G/C | — | uncertain significance |
| rs3804640 | 3:107,793,709 | A/G | intron variant | — |
| rs1294565690 | 3:107,798,856 | C/T | — | uncertain significance |
| rs760735393 | 3:107,798,928 | C/T | — | uncertain significance |
| rs1421090873 | 3:107,798,975 | A/G | — | uncertain significance |
| rs200864999 | 3:107,798,983 | T/A | — | uncertain significance |
| rs182245005 | 3:107,799,146 | G/A | — | uncertain significance |
| rs989305 | 3:107,799,465 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.