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

ENSG00000162747 ∙ NCBI:2215 ∙ OMIM:610665 ∙ HGNC:3620 ∙ Uniprot:O75015 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			32	4		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCGR3B	protein_coding	protein_coding	ENST00000531221	5	8768

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.03e-7	0.184	125474	0	26	125500	0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.09	178	142	1.26	0.00000705	1712
Missense in Polyphen		53	41.543	1.2758		555
Synonymous	-1.77	73	56.2	1.30	0.00000300	524
Loss of Function	0.0101	10	10.0	0.997	4.25e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000447	0.000445
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000545
Finnish	0.00	0.00
European (Non-Finnish)	0.0000798	0.0000792
Middle Eastern	0.0000547	0.0000545
South Asian	0.00	0.00
Other	0.000332	0.000326

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
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00271

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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