FCGR2B

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

Basic information

Region (hg38): 1:161663142-161678654

Previous symbols: [ "FCG2", "FCGR2" ]

Links

ENSG00000072694 ∙ NCBI:2213 ∙ OMIM:604590 ∙ HGNC:3618 ∙ Uniprot:P31994 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• systemic lupus erythematosus (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FCGR2B gene.

• Inborn genetic diseases (10 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FCGR2B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2			2
missense			8	2	2	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	10	2	2

Variants in FCGR2B

This is a list of pathogenic ClinVar variants found in the FCGR2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-161671395-C-G		not specified	Likely benign (Sep 17, 2021)
1-161671401-C-A		not specified	Uncertain significance (Jul 06, 2022)
1-161671447-G-A			Uncertain significance (Jan 01, 2017)
1-161671472-C-T		not specified	Uncertain significance (Mar 14, 2023)
1-161671477-G-A			Uncertain significance (Jan 01, 2017)
1-161671517-A-G		not specified	Uncertain significance (Feb 26, 2024)
1-161672998-C-A		not specified	Uncertain significance (May 18, 2023)
1-161673037-T-G		not specified	Uncertain significance (Jul 13, 2021)
1-161673054-C-G		not specified	Uncertain significance (Feb 27, 2024)
1-161673109-C-T		not specified	Uncertain significance (Dec 28, 2022)
1-161673122-A-G		not specified	Likely benign (Aug 30, 2021)
1-161673133-C-T			Uncertain significance (-)
1-161673191-C-T			Benign (May 01, 2022)
1-161673236-G-A			Likely benign (-)
1-161674008-T-C		Systemic lupus erythematosus, susceptibility to • Malaria, resistance to	protective; risk factor (May 18, 2015)
1-161675262-C-T			Benign (Jul 23, 2018)
1-161677358-A-G		not specified	Uncertain significance (Jul 15, 2021)
1-161677472-C-G			Likely benign (Apr 10, 2018)
1-161677510-A-G		not specified	Uncertain significance (Feb 10, 2022)
1-161677531-C-T		not specified	Uncertain significance (Dec 17, 2023)
1-161677540-A-G		not specified	Uncertain significance (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FCGR2B	protein_coding	protein_coding	ENST00000358671	8	97344

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.456	0.538	125720	0	5	125725	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.108	131	135	0.974	0.00000718	2000
Missense in Polyphen		27	38.974	0.69277		580
Synonymous	-0.945	61	52.3	1.17	0.00000304	595
Loss of Function	2.33	2	9.93	0.201	4.22e-7	163

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000441	0.0000440
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the Fc region of complexed or aggregated immunoglobulins gamma. Low affinity receptor. Involved in a variety of effector and regulatory functions such as phagocytosis of immune complexes and modulation of antibody production by B- cells. Binding to this receptor results in down-modulation of previous state of cell activation triggered via antigen receptors on B-cells (BCR), T-cells (TCR) or via another Fc receptor. Isoform IIB1 fails to mediate endocytosis or phagocytosis. Isoform IIB2 does not trigger phagocytosis.
• Disease: DISEASE: Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269|PubMed:12115230, ECO:0000269|PubMed:20385827}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
• Pathway: B cell receptor signaling pathway - Homo sapiens (human);Fc gamma R-mediated phagocytosis - Homo sapiens (human);Phagosome - Homo sapiens (human);Staphylococcus aureus infection - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Measles - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System;BCR;BCR signaling pathway;Fc-epsilon receptor I signaling in mast cells (Consensus)

Recessive Scores

• pRec: 0.125

Intolerance Scores

• loftool: 0.840
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.53

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.386
• ghis: 0.542

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.859

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Fcgr2b
• Phenotype: endocrine/exocrine gland phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype; cellular phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; skeleton phenotype; renal/urinary system phenotype; immune system phenotype

Gene ontology

• Biological process: negative regulation of type I hypersensitivity;negative regulation of antibody-dependent cellular cytotoxicity;follicular dendritic cell activation;mature B cell differentiation involved in immune response;follicular B cell differentiation;immune complex clearance by monocytes and macrophages;negative regulation of dendritic cell antigen processing and presentation;regulation of B cell antigen processing and presentation;negative regulation of immunoglobulin production;regulation of adaptive immune response;negative regulation of acute inflammatory response to antigenic stimulus;positive regulation of humoral immune response;negative regulation of humoral immune response mediated by circulating immunoglobulin;receptor-mediated endocytosis;phagocytosis, engulfment;defense response;inflammatory response;immune response;signal transduction;response to bacterium;regulation of signaling receptor activity;viral process;immunoglobulin mediated immune response;antigen processing and presentation of exogenous peptide antigen via MHC class II;cerebellum development;negative regulation of B cell proliferation;negative regulation of interleukin-10 production;Fc-gamma receptor signaling pathway involved in phagocytosis;negative regulation of macrophage activation;negative regulation of cytotoxic T cell degranulation;regulation of innate immune response;mast cell activation;positive regulation of JNK cascade;negative regulation of cytokine secretion;negative regulation of phagocytosis;positive regulation of phagocytosis;regulation of immune response;negative regulation of immune response;negative regulation of B cell activation;cellular response to molecule of bacterial origin;regulation of immune complex clearance by monocytes and macrophages;positive regulation of neuron death;negative regulation of neutrophil activation;regulation of dendritic spine maintenance;cellular response to amyloid-beta;positive regulation of response to endoplasmic reticulum stress;negative regulation of dendritic cell differentiation
• Cellular component: plasma membrane;integral component of plasma membrane;external side of plasma membrane;dendritic spine;cell body
• Molecular function: amyloid-beta binding;protein binding;low-affinity IgG receptor activity;IgG binding;protein-containing complex binding