FCGR3A
Fc gamma receptor IIIa
Summary
This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other responses, including antibody dependent cellular mediated cytotoxicity and antibody dependent enhancement of virus infections. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene are associated with immunodeficiency 20, and have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2020]
Known Variants37 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs445509 | 1:161,512,348 | C/T | — | — |
| rs573034150 | 1:161,512,866 | C/A | — | uncertain significance |
| rs1212676969 | 1:161,512,942 | C/G | — | uncertain significance |
| rs1407758934 | 1:161,512,956 | G/A | — | uncertain significance |
| rs368814629 | 1:161,512,978 | A/G | — | likely benign |
| rs396991 | 1:161,514,542 | A/C | missense variant | likely benign |
| rs749893099 | 1:161,514,553 | C/A | — | uncertain significance |
| rs894642895 | 1:161,514,574 | T/C | — | uncertain significance |
| rs1677313303 | 1:161,514,672 | C/A | — | uncertain significance |
| rs1677316655 | 1:161,514,712 | T/A | — | uncertain significance |
| rs1557853926 | 1:161,514,718 | A/G | — | uncertain significance |
| rs77825069 | 1:161,517,685 | C/T | — | — |
| rs148181339 | 1:161,518,214 | T/C | — | benign |
| rs755288067 | 1:161,518,232 | C/T | — | uncertain significance |
| rs145557772 | 1:161,518,234 | G/A | — | uncertain significance |
| rs428888 | 1:161,518,286 | C/T | missense variant | — |
| rs142322800 | 1:161,518,292 | T/C | — | uncertain significance |
| rs114535887 | 1:161,518,314 | C/T | — | benign |
| rs10127939 | 1:161,518,333 | A/T | missense variant | uncertain significance |
| rs77144485 | 1:161,518,336 | C/T | — | benign |
| rs777467556 | 1:161,518,385 | C/T | — | uncertain significance |
| rs747338915 | 1:161,518,392 | C/A | — | uncertain significance |
| rs143657896 | 1:161,518,409 | C/A | — | uncertain significance |
| rs147185130 | 1:161,518,410 | C/A | — | uncertain significance |
| rs403016 | 1:161,518,422 | C/G | missense variant | — |
| rs769001959 | 1:161,518,434 | A/G | — | uncertain significance |
| rs2527036740 | 1:161,518,818 | G/A | — | uncertain significance |
| rs4656317 | 1:161,519,119 | G/C | intron variant | — |
| rs150126795 | 1:161,519,374 | G/A | intron variant | — |
| rs10917571 | 1:161,519,411 | C/A | — | benign |
| rs371773367 | 1:161,519,495 | A/T | — | uncertain significance |
| rs746897776 | 1:161,519,499 | G/C | — | uncertain significance |
| rs58856594 | 1:161,519,502 | C/T | — | uncertain significance |
| rs367608938 | 1:161,519,564 | C/T | — | likely benign |
| rs758781160 | 1:161,519,576 | G/A | — | uncertain significance |
| rs1003462350 | 1:161,519,780 | A/G | — | uncertain significance |
| rs553304658 | 1:161,520,393 | C/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.