CD68
CD68 molecule
Summary
This gene encodes a 110-kD transmembrane glycoprotein that is highly expressed by human monocytes and tissue macrophages. It is a member of the lysosomal/endosomal-associated membrane glycoprotein (LAMP) family. The protein primarily localizes to lysosomes and endosomes with a smaller fraction circulating to the cell surface. It is a type I integral membrane protein with a heavily glycosylated extracellular domain and binds to tissue- and organ-specific lectins or selectins. The protein is also a member of the scavenger receptor family. Scavenger receptors typically function to clear cellular debris, promote phagocytosis, and mediate the recruitment and activation of macrophages. Alternative splicing results in multiple transcripts encoding different isoforms. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs923135296 | 17:7,483,022 | G/C | — | likely benign |
| rs1201390134 | 17:7,483,024 | C/T | — | uncertain significance |
| rs34474840 | 17:7,483,132 | G/A | — | benign |
| rs374658534 | 17:7,483,196 | C/T | — | uncertain significance |
| rs147152347 | 17:7,483,200 | C/T | — | benign |
| rs772227086 | 17:7,483,254 | C/G | — | uncertain significance |
| rs750846822 | 17:7,483,280 | G/A | — | uncertain significance |
| rs531445203 | 17:7,483,302 | C/T | — | uncertain significance |
| rs750945975 | 17:7,483,326 | C/T | — | uncertain significance |
| rs1225189329 | 17:7,483,331 | A/C | — | uncertain significance |
| rs1426848641 | 17:7,483,368 | G/A | — | uncertain significance |
| rs749699976 | 17:7,483,548 | T/C | — | uncertain significance |
| rs368119336 | 17:7,483,627 | A/G | — | likely benign |
| rs371385448 | 17:7,483,629 | C/T | — | uncertain significance |
| rs2071470432 | 17:7,483,851 | C/T | — | uncertain significance |
| rs1288331576 | 17:7,483,856 | C/T | — | likely benign |
| rs2508502781 | 17:7,483,868 | T/C | — | uncertain significance |
| rs1398747487 | 17:7,483,875 | A/G | — | uncertain significance |
| rs9896688 | 17:7,483,915 | A/T | regulatory region variant | — |
| rs866852066 | 17:7,484,062 | A/G | — | uncertain significance |
| rs779654567 | 17:7,484,226 | C/T | — | uncertain significance |
| rs34891279 | 17:7,484,295 | G/A | — | uncertain significance |
| rs766046163 | 17:7,484,320 | C/A | — | uncertain significance |
| rs145943583 | 17:7,484,336 | C/G | — | uncertain significance |
| rs2508506388 | 17:7,484,349 | C/A | — | uncertain significance |
| rs745993514 | 17:7,484,393 | T/C | — | likely benign |
| rs35452170 | 17:7,484,750 | T/C | — | benign |
| rs751640523 | 17:7,484,797 | C/T | — | uncertain significance |
| rs781304672 | 17:7,484,800 | A/G | — | uncertain significance |
| rs9901675 | 17:7,484,812 | G/A | missense variant | — |
| rs12944954 | 17:7,485,131 | A/G | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.