FCGR2B
Fc gamma receptor IIb, the group of CD molecules|Immunoglobulin like domain containing|Fc receptors
Basic information
Region (hg38): 1:161663143-161678654
Previous symbols: [ "FCG2", "FCGR2" ]
Links
Phenotypes
GenCC
Source:
- systemic lupus erythematosus (No Known Disease Relationship), mode of inheritance: Unknown
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
| missense | 11 | 15 | ||||
| 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 | 13 | 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:
| 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:
- 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
- pHI
- 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