FCGR3B

Fc gamma receptor IIIb, the group of CD molecules|Immunoglobulin like domain containing|Fc receptors

Basic information

Region (hg38): 1:161623196-161631963

Previous symbols: [ "FCGR3", "FCG3" ]

Links

ENSG00000162747NCBI:2215OMIM:610665HGNC:3620Uniprot:O75015AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • systemic lupus erythematosus (Supportive), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FCGR3B gene.

  • not_specified (35 variants)
  • not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCGR3B gene is commonly pathogenic or not. These statistics are base on transcript: NM_001244753.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
32
clinvar
4
clinvar
36
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 32 4 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FCGR3Bprotein_codingprotein_codingENST00000531221 58768
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.03e-70.1841254740261255000.000104
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.091781421.260.000007051712
Missense in Polyphen5341.5431.2758555
Synonymous-1.777356.21.300.00000300524
Loss of Function0.01011010.00.9974.25e-7117

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004470.000445
Ashkenazi Jewish0.000.00
East Asian0.00005470.0000545
Finnish0.000.00
European (Non-Finnish)0.00007980.0000792
Middle Eastern0.00005470.0000545
South Asian0.000.00
Other0.0003320.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Receptor for the Fc region of immunoglobulins gamma. Low affinity receptor. Binds complexed or aggregated IgG and also monomeric IgG. Contrary to III-A, is not capable to mediate antibody-dependent cytotoxicity and phagocytosis. May serve as a trap for immune complexes in the peripheral circulation which does not activate neutrophils.;
Pathway
Systemic lupus erythematosus - Homo sapiens (human);Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Leishmaniasis - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Neutrophil degranulation;ras-independent pathway in nk cell-mediated cytotoxicity;Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec
0.0906

Intolerance Scores

loftool
0.400
rvis_EVS
-0.12
rvis_percentile_EVS
45.13

Haploinsufficiency Scores

pHI
0.00848
hipred
N
hipred_score
0.112
ghis
0.530

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.00271

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fcgr4
Phenotype
homeostasis/metabolism phenotype; skeleton phenotype; hematopoietic system phenotype; immune system phenotype;

Gene ontology

Biological process
immune response;neutrophil degranulation
Cellular component
extracellular region;plasma membrane;secretory granule membrane;anchored component of membrane;extracellular exosome
Molecular function
IgG binding