CD163
CD163 molecule
Summary
The protein encoded by this gene is a member of the scavenger receptor cysteine-rich (SRCR) superfamily, and is exclusively expressed in monocytes and macrophages. It functions as an acute phase-regulated receptor involved in the clearance and endocytosis of hemoglobin/haptoglobin complexes by macrophages, and may thereby protect tissues from free hemoglobin-mediated oxidative damage. This protein may also function as an innate immune sensor for bacteria and inducer of local inflammation. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Known Variants71 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs117692263 | 12:7,625,014 | T/C | intron variant | — |
| rs145920606 | 12:7,627,311 | A/G | intron variant | — |
| rs180879827 | 12:7,628,069 | A/T | intron variant | — |
| rs74056488 | 12:7,632,533 | G/T | — | benign |
| rs114949843 | 12:7,632,565 | C/T | — | likely benign |
| rs1949141633 | 12:7,632,653 | G/C | — | uncertain significance |
| rs10734844 | 12:7,635,038 | A/G | upstream gene variant | — |
| rs2136697351 | 12:7,635,263 | G/A | — | risk factor |
| rs1296391490 | 12:7,635,279 | G/T | — | likely benign |
| rs758112020 | 12:7,635,308 | C/T | — | likely benign |
| rs2497337753 | 12:7,635,329 | C/T | — | uncertain significance |
| rs142819685 | 12:7,635,346 | C/T | — | uncertain significance |
| rs772177097 | 12:7,635,352 | G/A | — | uncertain significance |
| rs748163507 | 12:7,635,568 | T/G | — | uncertain significance |
| rs6488340 | 12:7,635,793 | G/C | — | — |
| rs78817356 | 12:7,636,027 | A/G | — | benign |
| rs2497340941 | 12:7,636,056 | T/G | — | uncertain significance |
| rs771733043 | 12:7,636,070 | T/C | — | uncertain significance |
| rs141738038 | 12:7,637,708 | G/A | — | benign |
| rs771306546 | 12:7,637,718 | G/A | — | uncertain significance |
| rs772532269 | 12:7,637,772 | T/G | — | uncertain significance |
| rs79148200 | 12:7,637,795 | A/G | — | benign |
| rs61729513 | 12:7,637,872 | G/A | — | benign |
| rs2497348436 | 12:7,637,902 | C/T | — | uncertain significance |
| rs756517724 | 12:7,639,173 | G/C | — | uncertain significance |
| rs2497353205 | 12:7,639,251 | C/A | — | uncertain significance |
| rs2497353459 | 12:7,639,286 | A/G | — | uncertain significance |
| rs778112907 | 12:7,639,313 | C/G | — | uncertain significance |
| rs748894509 | 12:7,639,493 | T/G | — | uncertain significance |
| rs779555857 | 12:7,640,009 | C/T | — | uncertain significance |
| rs1949267654 | 12:7,640,054 | G/A | — | uncertain significance |
| rs775108242 | 12:7,640,077 | C/A | — | uncertain significance |
| rs77754972 | 12:7,640,079 | A/T | — | benign |
| rs868652913 | 12:7,640,095 | C/T | — | likely benign |
| rs2497357651 | 12:7,640,117 | G/A | — | uncertain significance |
| rs1225509388 | 12:7,640,127 | A/C | — | uncertain significance |
| rs200565868 | 12:7,640,233 | G/A | — | uncertain significance |
| rs775827673 | 12:7,640,254 | C/T | — | uncertain significance |
| rs61729510 | 12:7,640,395 | C/T | — | benign |
| rs746352336 | 12:7,640,400 | G/T | — | uncertain significance |
| rs1592001785 | 12:7,640,418 | G/C | — | likely benign |
| rs147948417 | 12:7,640,495 | T/C | — | uncertain significance |
| rs1949278643 | 12:7,640,561 | G/C | — | uncertain significance |
| rs774229513 | 12:7,640,564 | C/T | — | uncertain significance |
| rs2497360020 | 12:7,640,633 | C/T | — | uncertain significance |
| rs7953031 | 12:7,642,785 | A/C | intron variant | — |
| rs758445429 | 12:7,647,941 | C/T | — | uncertain significance |
| rs780185045 | 12:7,647,955 | C/T | — | uncertain significance |
| rs2497380437 | 12:7,648,314 | G/T | — | uncertain significance |
| rs4883263 | 12:7,649,484 | C/T | — | benign |
| rs956253157 | 12:7,649,601 | C/T | — | uncertain significance |
| rs2497385583 | 12:7,649,699 | T/A | — | uncertain significance |
| rs763887296 | 12:7,649,702 | A/T | — | uncertain significance |
| rs765910419 | 12:7,651,621 | A/T | — | uncertain significance |
| rs754590091 | 12:7,651,630 | A/C | — | uncertain significance |
| rs116933274 | 12:7,653,726 | A/T | — | benign |
| rs994900837 | 12:7,653,759 | G/T | — | uncertain significance |
| rs149279227 | 12:7,653,806 | T/C | — | uncertain significance |
| rs1463818561 | 12:7,653,815 | G/T | — | uncertain significance |
| rs749192815 | 12:7,653,830 | C/T | — | uncertain significance |
| rs2497400252 | 12:7,653,840 | C/T | — | uncertain significance |
| rs766480984 | 12:7,653,857 | C/T | — | uncertain significance |
| rs1279399354 | 12:7,653,881 | G/C | — | uncertain significance |
| rs1949486048 | 12:7,653,948 | T/C | — | uncertain significance |
| rs151182771 | 12:7,653,970 | C/T | — | benign |
| rs377264728 | 12:7,653,977 | C/G | — | uncertain significance |
| rs7954492 | 12:7,654,317 | T/C | — | — |
| rs747745411 | 12:7,655,082 | C/G | — | uncertain significance |
| rs1464976706 | 12:7,655,153 | T/G | — | uncertain significance |
| rs1470715220 | 12:7,656,242 | A/T | — | uncertain significance |
| rs75608120 | 12:7,656,997 | T/C | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.