FCER1G

gene
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Also known as FcepsilonRIgamma

Summary

FCER1G (Fc epsilon receptor Ig, HGNC:3611) is a protein-coding gene on chromosome 1q23.3, encoding High affinity immunoglobulin epsilon receptor subunit gamma (P30273). Adapter protein containing an immunoreceptor tyrosine-based activation motif (ITAM) that transduces activation signals from various immunoreceptors.

The high affinity IgE receptor is a key molecule involved in allergic reactions. It is a tetramer composed of 1 alpha, 1 beta, and 2 gamma chains. The gamma chains are also subunits of other Fc receptors.

Source: NCBI Gene 2207 — RefSeq curated summary.

At a glance

  • GWAS associations: 21
  • Clinical variants (ClinVar): 16 total
  • MANE Select transcript: NM_004106

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:3611
Approved symbolFCER1G
NameFc epsilon receptor Ig
Location1q23.3
Locus typegene with protein product
StatusApproved
AliasesFcepsilonRIgamma
Ensembl geneENSG00000158869
Ensembl biotypeprotein_coding
OMIM147139
Entrez2207

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000289902, ENST00000367992, ENST00000490414, ENST00000882697

RefSeq mRNA: 1 — MANE Select: NM_004106 NM_004106

CCDS: CCDS1225

Canonical transcript exons

ENST00000289902 — 5 exons

ExonStartEnd
ENSE00001041693161217986161218077
ENSE00001068321161215295161215370
ENSE00003480932161218703161218723
ENSE00003565129161218881161219245
ENSE00003609913161218241161218276

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 99.79.

FANTOM5 (CAGE): breadth broad, TPM avg 278.8084 / max 13061.0453, expressed in 580 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
6218278.8084580

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
monocyteCL:000057699.79gold quality
mononuclear cellCL:000084299.77gold quality
leukocyteCL:000073899.76gold quality
granulocyteCL:000009499.69gold quality
right lungUBERON:000216799.20gold quality
upper lobe of left lungUBERON:000895298.98gold quality
bloodUBERON:000017898.97gold quality
spleenUBERON:000210698.93gold quality
upper lobe of lungUBERON:000894898.62gold quality
bone marrowUBERON:000237198.35gold quality
bone marrow cellCL:000209298.11gold quality
right coronary arteryUBERON:000162597.97gold quality
gall bladderUBERON:000211097.75gold quality
rectumUBERON:000105297.55gold quality
descending thoracic aortaUBERON:000234597.38gold quality
omental fat padUBERON:001041497.31gold quality
peritoneumUBERON:000235897.22gold quality
left coronary arteryUBERON:000162696.98gold quality
mucosa of stomachUBERON:000119996.85gold quality
right adrenal gland cortexUBERON:003582796.74gold quality
thoracic aortaUBERON:000151596.72gold quality
right adrenal glandUBERON:000123396.62gold quality
adipose tissue of abdominal regionUBERON:000780896.62gold quality
ascending aortaUBERON:000149696.60gold quality
vermiform appendixUBERON:000115496.52gold quality
left adrenal glandUBERON:000123496.52gold quality
left adrenal gland cortexUBERON:003582596.48gold quality
C1 segment of cervical spinal cordUBERON:000646996.46gold quality
trabecular bone tissueUBERON:000248396.43gold quality
lymph nodeUBERON:000002996.02gold quality

Single-cell (SCXA)

Detected in 52 experiment(s), a significant marker in 49.

ExperimentMarker?Max mean expression
E-MTAB-8495yes4690.42
E-GEOD-135922yes4369.24
E-HCAD-15yes4144.79
E-MTAB-6308yes4113.41
E-CURD-55yes4093.06
E-MTAB-8410yes3504.67
E-MTAB-8142yes3474.71
E-GEOD-149689yes3341.43
E-CURD-126yes3257.22
E-GEOD-139324yes3213.09
E-HCAD-1yes3112.87
E-CURD-88yes3017.18
E-CURD-122yes2924.58
E-HCAD-4yes2746.17
E-CURD-46yes2564.51

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, EGR1, ELF1, ESR1, FOS, GATA1, GATA2, HES1, NCOA3, RBPJ, SP1, SPI1, SPIB, SPIC, SSRP1, STAT6, TBXT, USF1, USF2, ZFPM1

miRNA regulators (miRDB)

31 targeting FCER1G, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4425100.0067.591049
HSA-MIR-4725-3P99.9669.532520
HSA-MIR-6780B-5P99.9669.602562
HSA-MIR-211099.9666.681930
HSA-MIR-427199.8868.322244
HSA-MIR-449299.8768.253611
HSA-MIR-797899.8666.90856
HSA-MIR-6756-5P99.8267.972466
HSA-MIR-548AU-3P99.7068.221373
HSA-MIR-119799.7067.751027
HSA-MIR-6766-5P99.6867.702325
HSA-MIR-76299.5866.611994
HSA-MIR-432899.5771.064094
HSA-MIR-6716-5P99.5668.621244
HSA-MIR-302D-5P99.5069.341863
HSA-MIR-302B-5P99.5069.491857
HSA-MIR-444199.4966.563216
HSA-MIR-449899.4767.422360
HSA-MIR-4786-3P99.3668.351390
HSA-MIR-472199.2666.05818
HSA-MIR-452899.1869.771936
HSA-MIR-5001-5P99.0566.761972
HSA-MIR-3135B98.6165.331470
HSA-MIR-430398.0168.132304
HSA-MIR-6511B-5P97.9865.64823
HSA-MIR-6811-5P97.9864.96848
HSA-MIR-5189-3P97.5266.33487
HSA-MIR-425995.6865.25582
HSA-MIR-4693-3P95.2365.92735
HSA-MIR-4694-5P94.6265.39532

Literature-anchored findings (GeneRIF, showing 28)

  • Conservation of FcepsilonRI gamma chain coding region in normals and in SLE patients. (PMID:11898918)
  • FCGR3B quantification confirms the idea of the HNA-1c antigen to be inherited not only linked to HNA-1a, but also to be passed down on its own. (PMID:12366784)
  • Overexpression of the Fc epsilon RI gamma chain in normal T cells associates with TCR/CD3 complex, contributes to altered T cell signaling, and down-regulates the endogenous TCR zeta-chain expression in human T cells. (PMID:12626537)
  • evidence that FcepsilonRI-gamma (gamma) associates with 2DL4 to promote surface expression and provide signal transducing function. (PMID:15778339)
  • Data suggest that by associating with Fc epsilon RI gamma, BDCA2 activates a novel BCR-like signaling pathway to regulate the immune functions of plasmacytoid dendritic cells. (PMID:17850179)
  • The activating functions of KIR2DL4 killer receptor in natural killer (NK) cells are compartmentalized into distinct structural modules through transmembrane association with the Fc epsilon RI-gamma (FCERIG) receptor. (PMID:18292514)
  • Elf-1 in combination with Sp1 and GABP reduced FcRgamma promoter activity. (PMID:18378679)
  • reduced expression in histamin non-releaser basophils (PMID:19362683)
  • No associations with total and specific IgE levels as well as allergic sensitization were seen for FCER1B and FCER1G (PMID:20028371)
  • Data suggest a contribution of Fc epsilonRI alpha and gamma chains either to immunosurveillance or pathophysiology of the intestinal epithelium. (PMID:20126404)
  • Demethylation of specific regulatory elements within the FCER1G locus contributes to FcepsilonRI overexpression on monocytes from patients with atopic dermatitis. (PMID:22150093)
  • Altered expression of the TCR signaling related genes CD3 and FcepsilonRIgamma in patients with aplastic anemia. (PMID:22401598)
  • There was loss of the negative correlation in the expression levels of CD3eta and FcepsilonRIgamma genes in CLL patients. (PMID:22664044)
  • CD2-associated adaptor protein (CD2AP) positively regulates blood dendritic cell antigen 2 (BDCA2)/FcepsilonR1gamma signaling by forming a complex with SH2 domain-containing inositol 5’-phosphatase (SHIP)1 to inhibit the E3 ubiquitin ligase Cbl. (PMID:22706086)
  • High expression of FCER1G is associated with chronic myeloid leukemia. (PMID:23228155)
  • Studies indicate that in response to stimulation with antigen, PHB1 translocated to plasma membrane lipid rafts to form a ternary complex with the high-affinity IgE receptor FcepsilonRIgamma and the nonreceptor tyrosine kinase Syk. (PMID:24023253)
  • Data indicate that the decreasing trend in the expression level of TCRzeta chain, ZAP-70 kinase and epsilon Fc Receptors FcvarepsilonRIgamma was significantly associated with disease progression. (PMID:25513989)
  • FcgammaR-mediated Syk activation leads to NLRP3 inflammasome-dependent IL-1beta production in macrophages and suggests that an Nlrp3- and IL-1R-dependent process contributes to the IgA response important for protection against Francisella tularensis LVS. (PMID:27365531)
  • mass spectrometry of WT human FcRgamma from receptor-stimulated cells shows consistent preferential phosphorylation of the serine residue at position 51. (PMID:27630214)
  • FCER1G was identified and validated in association with ccRCC progression and prognosis, which might improve the prognosis by influencing immune-related pathways (PMID:29209141)
  • Phenotypic and Functional Analysis of Human NK Cell Subpopulations According to the Expression of FcepsilonRIgamma and NKG2C. (PMID:31867015)
  • Identification of TYROBP and FCER1G as Key Genes with Prognostic Value in Clear Cell Renal Cell Carcinoma by Bioinformatics Analysis. (PMID:33786672)
  • FCER1G and PTGS2 Serve as Potential Diagnostic Biomarkers of Acute Myocardial Infarction Based on Integrated Bioinformatics Analyses. (PMID:34115526)
  • The role of SPI1-TYROBP-FCER1G network in oncogenesis and prognosis of osteosarcoma, and its association with immune infiltration. (PMID:35078433)
  • Fc Fragment of IgE Receptor Ig (FCER1G) acts as a key gene involved in cancer immune infiltration and tumour microenvironment. (PMID:36054819)
  • Diminished cell proliferation promotes natural killer cell adaptive-like phenotype by limiting FcepsilonRIgamma expression. (PMID:36066491)
  • Identification of FCER1G as a key gene in multiple myeloma based on weighted gene co-expression network analysis. (PMID:37170758)
  • Identification of FCER1G as a cyclosporin A plus corticosteroid sensitization gene in female patients with Vogt-Koyanagi-Harada disease. (PMID:37821074)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_reriocd247lENSDARG00000077240
mus_musculusFcer1gENSMUSG00000058715
rattus_norvegicusFcer1gENSRNOG00000024159

Protein

Protein identifiers

High affinity immunoglobulin epsilon receptor subunit gammaP30273 (reviewed: P30273)

Alternative names: Fc receptor gamma-chain, Fc-epsilon RI-gamma, IgE Fc receptor subunit gamma

All UniProt accessions (2): P30273, A6NCQ8

UniProt curated annotations — full annotation on UniProt →

Function. Adapter protein containing an immunoreceptor tyrosine-based activation motif (ITAM) that transduces activation signals from various immunoreceptors. As a component of the high-affinity immunoglobulin E (IgE) receptor, mediates allergic inflammatory signaling in mast cells. As a constitutive component of interleukin-3 receptor complex, selectively mediates interleukin 4/IL4 production by basophils, priming T-cells toward effector T-helper 2 subset. Associates with pattern recognition receptors CLEC4D and CLEC4E to form a functional signaling complex in myeloid cells. Binding of mycobacterial trehalose 6,6’-dimycolate (TDM) to this receptor complex leads to phosphorylation of ITAM, triggering activation of SYK, CARD9 and NF-kappa-B, consequently driving maturation of antigen-presenting cells and shaping antigen-specific priming of T-cells toward effector T-helper 1 and T-helper 17 cell subtypes. May function cooperatively with other activating receptors. Functionally linked to integrin beta-2/ITGB2-mediated neutrophil activation. Also involved in integrin alpha-2/ITGA2-mediated platelet activation.

Subunit / interactions. IgE Fc receptor is a tetramer of an alpha chain, a beta chain, and two disulfide-linked gamma chains. Associates with FCGR1A; forms a functional signaling complex. The signaling subunit of immunoglobulin gamma (IgG) Fc receptor complex. As a homodimer or a heterodimer of CD247 and FCER1G, associates with the ligand binding subunit FCGR3A to form a functional receptor complex. Associated with CLEC6A. Interacts with CLEC4E. Interacts (via ITAM domain) with SYK (via SH2 domains); activates SYK, enabling integrin-mediated activation of neutrophils and macrophages. Interacts with CSF2RB and recruits SYK in response to IL3 stimulation; this interaction is direct. Interacts with CD300LH; the interaction may be indirect. Interacts with CD300LD. Interacts with TARM1.

Subcellular location. Cell membrane.

Similarity. Belongs to the CD3Z/FCER1G family.

RefSeq proteins (1): NP_004097* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003110Phos_immunorcpt_sig_ITAMRepeat
IPR021663CD3_zeta/IgE_Fc_rcpt_gammaFamily
IPR042340FCER1GFamily

Pfam: PF02189, PF11628

UniProt features (12 total): modified residue 4, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, helix 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

3 structures.

PDBMethodResolution (Å)
7Q5TX-RAY DIFFRACTION2.2
8YWAELECTRON MICROSCOPY3.14
8YVUELECTRON MICROSCOPY3.9

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P30273-F172.280.15

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 65, 69, 76, 78

Disulfide bonds (1): 25

Function

Pathways and Gene Ontology

Reactome pathways

10 pathways

IDPathway
R-HSA-114604GPVI-mediated activation cascade
R-HSA-202733Cell surface interactions at the vascular wall
R-HSA-2454202Fc epsilon receptor (FCERI) signaling
R-HSA-2730905Role of LAT2/NTAL/LAB on calcium mobilization
R-HSA-2871796FCERI mediated MAPK activation
R-HSA-2871809FCERI mediated Ca+2 mobilization
R-HSA-2871837FCERI mediated NF-kB activation
R-HSA-5621480Dectin-2 family
R-HSA-6798695Neutrophil degranulation
R-HSA-75892Platelet Adhesion to exposed collagen

MSigDB gene sets: 537 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_CELLULAR_RESPONSE_TO_LIPOPROTEIN_PARTICLE_STIMULUS, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, DAVIES_MULTIPLE_MYELOMA_VS_MGUS_DN, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II, WALLACE_PROSTATE_CANCER_RACE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE_TO_ANTIGENIC_STIMULUS, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_POSITIVE_REGULATION_OF_ENDOCYTOSIS, MCLACHLAN_DENTAL_CARIES_UP, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_MYELOID_LEUKOCYTE_MIGRATION, GOBP_CELL_CHEMOTAXIS

GO Biological Process (40): positive regulation of type IIa hypersensitivity (GO:0001798), positive regulation of type III hypersensitivity (GO:0001805), positive regulation of type I hypersensitivity (GO:0001812), neutrophil activation involved in immune response (GO:0002283), T cell differentiation involved in immune response (GO:0002292), Fc receptor mediated stimulatory signaling pathway (GO:0002431), serotonin secretion by platelet (GO:0002554), phagocytosis, engulfment (GO:0006911), integrin-mediated signaling pathway (GO:0007229), regulation of platelet activation (GO:0010543), immunoglobulin mediated immune response (GO:0016064), antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886), osteoclast differentiation (GO:0030316), neutrophil chemotaxis (GO:0030593), receptor internalization (GO:0031623), positive regulation of interleukin-10 production (GO:0032733), positive regulation of interleukin-4 production (GO:0032753), positive regulation of interleukin-6 production (GO:0032755), positive regulation of tumor necrosis factor production (GO:0032760), positive regulation of mast cell cytokine production (GO:0032765), mast cell apoptotic process (GO:0033024), negative regulation of mast cell apoptotic process (GO:0033026), Fc-gamma receptor signaling pathway (GO:0038094), Fc-epsilon receptor signaling pathway (GO:0038095), interleukin-3-mediated signaling pathway (GO:0038156), antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590), defense response to bacterium (GO:0042742), mast cell degranulation (GO:0043303), positive regulation of mast cell degranulation (GO:0043306), innate immune response (GO:0045087), positive regulation of phagocytosis (GO:0050766), cellular response to low-density lipoprotein particle stimulus (GO:0071404), protein localization to plasma membrane (GO:0072659), positive regulation of protein localization to cell surface (GO:2000010), immune system process (GO:0002376), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), mast cell activation (GO:0045576), regulation of immune response (GO:0050776), positive regulation of immune response (GO:0050778)

GO Molecular Function (7): IgE receptor activity (GO:0019767), IgE binding (GO:0019863), IgG binding (GO:0019864), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (9): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), Fc-epsilon receptor I complex (GO:0032998), Fc-gamma receptor III complex (GO:0033001), tertiary granule membrane (GO:0070821), ficolin-1-rich granule membrane (GO:0101003), membrane (GO:0016020), plasma membrane protein complex (GO:0098797)

Reactome top-level categories

Rollup of top-5 pathways:

CategoryPathways
Fc epsilon receptor (FCERI) signaling4
Hemostasis2
Innate Immune System2
Platelet activation, signaling and aggregation1
C-type lectin receptors (CLRs)1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
positive regulation of cytokine production3
positive regulation of hypersensitivity2
positive regulation of immunoglobulin mediated immune response2
immune response2
immunoglobulin binding2
plasma membrane2
cellular anatomical structure2
Fc receptor complex2
secretory granule membrane2
tertiary granule2
type IIa hypersensitivity1
regulation of type IIa hypersensitivity1
positive regulation of type II hypersensitivity1
type III hypersensitivity1
regulation of type III hypersensitivity1
positive regulation of myeloid leukocyte mediated immunity1
regulation of type I hypersensitivity1
type I hypersensitivity1
myeloid cell activation involved in immune response1
neutrophil activation1
T cell activation involved in immune response1
T cell differentiation1
immune response-activating cell surface receptor signaling pathway1
serotonin secretion involved in inflammatory response1
platelet degranulation1
establishment of localization in cell1
exocytic process1
phagocytosis1
plasma membrane invagination1
cell surface receptor signaling pathway1
platelet activation1
regulation of cell activation1
B cell mediated immunity1
antigen processing and presentation of exogenous peptide antigen1
antigen processing and presentation of peptide antigen via MHC class II1
myeloid leukocyte differentiation1
granulocyte chemotaxis1
neutrophil migration1
receptor-mediated endocytosis1
interleukin-10 production1

Protein interactions and networks

STRING

2348 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
FCER1GGP6Q9HCN6999
FCER1GSYKP43405998
FCER1GFCGR3AP08637997
FCER1GFCGR3BO75015996
FCER1GNCR1O76036995
FCER1GCLEC6AQ6EIG7994
FCER1GCLEC4EQ9ULY5994
FCER1GOSCARQ8IYS5992
FCER1GTREM2Q9NZC2990
FCER1GNCR3O14931989
FCER1GFCARP24071977
FCER1GFCER1AP12319975
FCER1GFCGR1AP12314970
FCER1GTYROBPO43914964
FCER1GLILRA4P59901937

IntAct

19 interactions, top by confidence:

ABTypeScore
FCER1GCD300Cpsi-mi:“MI:0915”(physical association)0.590
FCGR1AFCER1Gpsi-mi:“MI:0407”(direct interaction)0.560
SYKFCER1Gpsi-mi:“MI:0915”(physical association)0.560
SYKFCER1Gpsi-mi:“MI:0914”(association)0.560
NCR1FCER1Gpsi-mi:“MI:0915”(physical association)0.400
CLEC4CFCER1Gpsi-mi:“MI:0915”(physical association)0.400
FCER1GCLEC4Cpsi-mi:“MI:0915”(physical association)0.400
FCER1GCD300LDpsi-mi:“MI:0915”(physical association)0.400
FCER1GGP6psi-mi:“MI:0915”(physical association)0.400
FCER1GBTKpsi-mi:“MI:0915”(physical association)0.400
FCER1Gpsi-mi:“MI:0915”(physical association)0.370
FCER1Greppsi-mi:“MI:0915”(physical association)0.370
SLC15A4ESYT2psi-mi:“MI:0914”(association)0.350
MAPTSEPTIN8psi-mi:“MI:0914”(association)0.350
FCER1Gpsi-mi:“MI:0915”(physical association)0.000

BioGRID (90): FCAR (Affinity Capture-Western), FCER1G (Affinity Capture-Western), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid), FCER1G (Two-hybrid)

ESM2 similar proteins: O02757, O97797, P07766, P09693, P0CAN6, P11911, P11912, P11942, P18438, P18439, P20411, P20491, P22646, P27597, P29328, P30273, P31043, P40259, P40293, P42069, Q07249, Q14802, Q1XF11, Q28071, Q28072, Q28073, Q28074, Q3MHZ5, Q4R566, Q5PXD3, Q5R1Q1, Q5RB29, Q61835, Q64159, Q6X9T7, Q764N2, Q7YRN2, Q8SPW1, Q8WNQ9, Q91XV6

Diamond homologs: P20411, P20491, P20963, P24161, P29329, P30273, Q07249, Q8SPW1, Q9BDR7, Q9TUF8, Q9XSJ9, Q9XSZ6

SIGNOR signaling

1 interactions.

AEffectBMechanism
FCER1G“form complex”FCER1G/FCER1Gbinding

Disease & clinical

Clinical variants and AI predictions

ClinVar

16 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance8
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

521 predictions. Top by Δscore:

VariantEffectΔscore
1:161218699:GCAG:Gacceptor_loss1.0000
1:161218700:CA:Cacceptor_loss1.0000
1:161218701:A:AGacceptor_gain1.0000
1:161218701:A:Tacceptor_loss1.0000
1:161218702:G:GGacceptor_gain1.0000
1:161218702:GAA:Gacceptor_gain1.0000
1:161215367:GCAG:Gdonor_gain0.9900
1:161215371:GT:Gdonor_loss0.9900
1:161217929:T:TAacceptor_gain0.9900
1:161217984:A:AGacceptor_gain0.9900
1:161217984:AGC:Aacceptor_gain0.9900
1:161217985:G:GGacceptor_gain0.9900
1:161217985:GCG:Gacceptor_gain0.9900
1:161218073:TGAAG:Tdonor_loss0.9900
1:161218074:GAAGG:Gdonor_loss0.9900
1:161218076:AG:Adonor_loss0.9900
1:161218235:TTCCA:Tacceptor_loss0.9900
1:161218236:TCCAG:Tacceptor_loss0.9900
1:161218237:CCAGA:Cacceptor_loss0.9900
1:161218238:CAGAT:Cacceptor_loss0.9900
1:161218239:A:ACacceptor_loss0.9900
1:161218239:A:AGacceptor_gain0.9900
1:161218240:G:GAacceptor_loss0.9900
1:161218240:G:GGacceptor_gain0.9900
1:161218692:T:TAacceptor_gain0.9900
1:161218698:T:TAacceptor_gain0.9900
1:161218702:GA:Gacceptor_gain0.9900
1:161218702:GAAAT:Gacceptor_gain0.9900
1:161218724:G:GAdonor_loss0.9900
1:161218724:G:GGdonor_gain0.9900

AlphaMissense

533 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
1:161218043:G:AG36E0.997
1:161218042:G:AG36R0.996
1:161218042:G:CG36R0.996
1:161218031:T:AL32Q0.994
1:161218052:T:AL39H0.994
1:161218022:A:CD29A0.993
1:161218021:G:CD29H0.992
1:161218021:G:AD29N0.991
1:161218023:T:AD29E0.991
1:161218023:T:GD29E0.991
1:161218052:T:CL39P0.991
1:161218022:A:TD29V0.990
1:161218066:T:CC44R0.990
1:161218022:A:GD29G0.989
1:161218031:T:CL32P0.989
1:161218063:T:GY43D0.989
1:161218052:T:GL39R0.987
1:161218009:T:CC25R0.986
1:161218019:T:CL28P0.985
1:161218024:G:CA30P0.985
1:161218031:T:GL32R0.984
1:161218073:T:CL46P0.984
1:161218049:T:AV38D0.982
1:161218070:G:CR45P0.982
1:161218010:G:AC25Y0.981
1:161218019:T:AL28Q0.981
1:161218077:G:CK47N0.980
1:161218077:G:TK47N0.980
1:161218908:T:CY76H0.980
1:161218025:C:AA30D0.977

dbSNP variants (sampled 300 via entrez): RS1000176161 (1:161216045 A>G), RS1000341683 (1:161216813 G>C), RS1000534798 (1:161219152 C>T), RS1000696527 (1:161218415 A>C,G), RS1000830137 (1:161219486 G>T), RS1001552901 (1:161215784 G>T), RS1001994035 (1:161214883 A>C,G), RS1002204153 (1:161215041 T>G), RS1002341847 (1:161214623 T>C), RS1003787467 (1:161218513 T>C), RS1004008352 (1:161217446 A>G), RS1004124370 (1:161217190 T>C,G), RS1005789364 (1:161215342 G>A,T), RS1005795592 (1:161215828 G>A), RS1005847420 (1:161215998 G>A,T)

Disease associations

OMIM: gene MIM:147139 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

21 associations (top):

StudyTraitp-value
GCST003990_19Allergy1.000000e-09
GCST004303_3Aggressive periodontitis4.000000e-06
GCST004599_254Mean platelet volume2.000000e-13
GCST004616_116Platelet distribution width1.000000e-16
GCST005038_11Allergic disease (asthma, hay fever or eczema)1.000000e-11
GCST006409_33Allergic rhinitis6.000000e-19
GCST007797_50Asthma onset (childhood vs adult)1.000000e-06
GCST007798_9Asthma9.000000e-12
GCST007800_18Asthma (childhood onset)3.000000e-32
GCST008916_64Asthma2.000000e-08
GCST009719_20Allergic rhinitis4.000000e-10
GCST009720_86Asthma1.000000e-09
GCST010042_101Asthma4.000000e-12
GCST010043_86Asthma7.000000e-16
GCST90002395_538Mean platelet volume6.000000e-40
GCST90002395_539Mean platelet volume2.000000e-11
GCST90002398_498Neutrophil count2.000000e-12
GCST90002401_365Platelet distribution width1.000000e-47
GCST90002401_366Platelet distribution width3.000000e-11
GCST90002402_500Platelet count2.000000e-10
GCST90002407_9White blood cell count2.000000e-11

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0007984platelet component distribution width
EFO:0004847age at onset
EFO:0004833neutrophil count
EFO:0004309platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs11587213Toxicity3aspirinAsthma

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs11587213FCER1G34.501aspirin

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Fc epsilon receptors

CTD chemical–gene interactions

31 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
Aspirindecreases expression, affects response to substance3
Tretinoinincreases expression3
Air Pollutantsaffects expression, increases abundance, decreases expression2
Nickelincreases expression2
Ozoneaffects expression, increases abundance, decreases expression2
aristolochic acid Iincreases expression1
GSK-J4decreases expression1
testosterone enanthateaffects expression1
triphenyl phosphateaffects expression1
bisphenol Aaffects cotreatment, decreases methylation1
sodium arseniteaffects splicing, decreases expression1
convulxinincreases reaction, increases phosphorylation, affects binding, decreases reaction1
tamibaroteneincreases expression1
nilotinibaffects cotreatment, affects expression1
fenbuconazoleincreases expression1
Decitabineincreases expression1
Arsenic Trioxideaffects cotreatment, affects expression1
Fulvestrantaffects cotreatment, decreases methylation1
Acetaminophenaffects expression, decreases expression, affects cotreatment1
Calcitrioldecreases expression1
Cisplatinincreases expression1
Diethylhexyl Phthalateincreases expression1
Lipopolysaccharidesaffects cotreatment, affects expression, increases expression1
Methotrexatedecreases expression1
Quercetinincreases expression1
Valproic Aciddecreases expression1
Citalopramaffects binding, decreases reaction, increases reaction1
Asbestos, Serpentinedecreases expression1
Antirheumatic Agentsdecreases expression1
Particulate Matterdecreases expression, increases abundance1

Cellosaurus cell lines

13 cell lines: 7 cancer cell line, 5 spontaneously immortalized cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_1F83TZM-bl/FcalphaRCancer cell lineFemale
CVCL_C4MPRBL SX-38Cancer cell line
CVCL_D5HBAbcam THP-1 FCER1G KOCancer cell lineMale
CVCL_E1A9Ubigene NK-92 FCER1G KOCancer cell lineMale
CVCL_E4J6Genomeditech Jurkat H_CLEC4C(BDCA2) ReporterCancer cell lineMale
CVCL_E5I6CHO-K1/CD16A 158VSpontaneously immortalized cell lineFemale
CVCL_E5I7CHO-K1/CD64Spontaneously immortalized cell lineFemale
CVCL_E5IGCHO-K1/BDCA2 and FcER1GSpontaneously immortalized cell lineFemale
CVCL_E6Q2Genomeditech CHO-K1 H_CLEC4C(BDCA2)+FCER1GSpontaneously immortalized cell lineFemale
CVCL_E6TSGenomeditech HEK-293 H_CLEC4C(BDCA2)+FCER1GTransformed cell lineFemale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): periodontitis, aggressive 1