FCGR3A

Chr 1AR

Fc gamma receptor IIIa

Also known as: CD16-II, CD16A, FCG3, FCGR3, FCRIIIA, FcGRIIIA, IGFR3, IMD20

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency 20MIM #615707
AR
1
Active trials
84
Pubs (1 yr)
P/LP submissions
P/LP missense
1.50
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score 0.41
OE 0.86 (0.521.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.04Z-score
OE missense 1.24 (1.101.40)
186 obs / 150.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.86 (0.521.50)
00.351.4
Missense OE?1.24 (1.101.40)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 9 / 10.4Missense obs/exp: 186 / 150.2Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FCGR3A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.