MFGE8
milk fat globule EGF and factor V/VIII domain containing
Summary
This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147372521 | 15:89,442,635 | C/T | — | benign |
| rs139526153 | 15:89,442,697 | G/A | — | uncertain significance |
| rs775984272 | 15:89,442,711 | G/A | — | uncertain significance |
| rs147286834 | 15:89,442,723 | T/A | — | uncertain significance |
| rs2505487502 | 15:89,442,738 | T/C | — | uncertain significance |
| rs932378116 | 15:89,442,751 | T/C | — | uncertain significance |
| rs373267463 | 15:89,442,937 | C/T | — | uncertain significance |
| rs2505490066 | 15:89,442,999 | T/G | — | uncertain significance |
| rs979259594 | 15:89,444,792 | T/A | — | uncertain significance |
| rs753546938 | 15:89,444,823 | C/G | — | uncertain significance |
| rs149096162 | 15:89,444,912 | G/A | — | uncertain significance |
| rs2505507501 | 15:89,444,931 | T/G | — | uncertain significance |
| rs781591871 | 15:89,444,957 | T/C | — | uncertain significance |
| rs375727875 | 15:89,444,961 | C/T | — | uncertain significance |
| rs111672988 | 15:89,445,144 | G/A | intron variant | — |
| rs148279922 | 15:89,448,988 | C/T | — | likely benign |
| rs188297153 | 15:89,449,010 | C/T | — | benign |
| rs200993989 | 15:89,449,018 | G/A | — | uncertain significance |
| rs371137235 | 15:89,449,032 | G/A | — | uncertain significance |
| rs771527057 | 15:89,449,036 | G/A | — | uncertain significance |
| rs753016463 | 15:89,449,060 | C/T | — | uncertain significance |
| rs1596196394 | 15:89,449,115 | C/G | — | uncertain significance |
| rs769108892 | 15:89,449,895 | C/T | — | likely benign |
| rs149412178 | 15:89,449,925 | A/C | — | uncertain significance |
| rs371227978 | 15:89,449,954 | C/T | — | benign |
| rs778974926 | 15:89,449,955 | G/A | — | uncertain significance |
| rs776606175 | 15:89,449,997 | G/A | — | uncertain significance |
| rs1878328 | 15:89,450,312 | T/A | — | — |
| rs144515829 | 15:89,450,468 | A/G | — | benign |
| rs751882431 | 15:89,450,474 | C/G | — | likely benign |
| rs112222226 | 15:89,450,503 | C/G | — | uncertain significance |
| rs12909463 | 15:89,450,911 | A/G | intron variant | — |
| rs77472304 | 15:89,453,014 | C/G | — | benign |
| rs370492620 | 15:89,453,045 | G/A | — | likely benign |
| rs35921618 | 15:89,453,047 | A/T | — | uncertain significance |
| rs1898872394 | 15:89,453,050 | C/T | — | uncertain significance |
| rs138080885 | 15:89,453,060 | C/T | — | benign |
| rs145851768 | 15:89,453,073 | G/A | — | uncertain significance |
| rs764118626 | 15:89,453,128 | T/C | — | uncertain significance |
| rs774433252 | 15:89,453,137 | G/C | — | uncertain significance |
| rs143117049 | 15:89,453,152 | T/C | — | benign |
| rs527247787 | 15:89,454,059 | G/C | — | — |
| rs34239095 | 15:89,455,768 | C/G | regulatory region variant | — |
| rs1166140103 | 15:89,456,487 | C/A | — | uncertain significance |
| rs751103139 | 15:89,456,509 | C/T | — | likely benign |
| rs983065851 | 15:89,456,517 | C/T | — | uncertain significance |
| rs908784455 | 15:89,456,527 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.