FCER1A

Summary

FCER1A (Fc epsilon receptor Ia, HGNC:3609) is a protein-coding gene on chromosome 1q23.2, encoding High affinity immunoglobulin epsilon receptor subunit alpha (P12319). High-affinity receptor for immunoglobulin epsilon/IgE.

The immunoglobulin epsilon receptor (IgE receptor) is the initiator of the allergic response. When two or more high-affinity IgE receptors are brought together by allergen-bound IgE molecules, mediators such as histamine that are responsible for allergy symptoms are released. This receptor is comprised of an alpha subunit, a beta subunit, and two gamma subunits. The protein encoded by this gene represents the alpha subunit.

Source: NCBI Gene 2205 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 45 total
• Druggable target: yes
• MANE Select transcript: NM_001387280

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3609
Approved symbol	FCER1A
Name	Fc epsilon receptor Ia
Location	1q23.2
Locus type	gene with protein product
Status	Approved
Aliases	FcepsilonRIalpha, FCERIA
Ensembl gene	ENSG00000179639
Ensembl biotype	protein_coding
OMIM	147140
Entrez	2205

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000368114, ENST00000368115, ENST00000693622

RefSeq mRNA: 4 — MANE Select: NM_001387280 NM_001387280, NM_001387281, NM_001387282, NM_002001

CCDS: CCDS1184, CCDS91081

Canonical transcript exons

ENST00000693622 — 5 exons

Exon	Start	End
ENSE00001067917	159302854	159302874
ENSE00001067919	159303928	159304182
ENSE00001277186	159305988	159306245
ENSE00001446351	159302336	159302419
ENSE00003927932	159307748	159308202

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 97.44.

FANTOM5 (CAGE): breadth broad, TPM avg 19.8797 / max 3099.2304, expressed in 245 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
5970	18.6127	242
5969	1.0420	59
5972	0.0635	14
5971	0.0510	16
5974	0.0458	11
5975	0.0437	8
5973	0.0209	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper leg skin	UBERON:0004262	97.44	gold quality
skin of hip	UBERON:0001554	96.94	gold quality
upper arm skin	UBERON:0004263	92.87	gold quality
granulocyte	CL:0000094	91.86	gold quality
leukocyte	CL:0000738	91.52	gold quality
mononuclear cell	CL:0000842	91.25	gold quality
monocyte	CL:0000576	91.24	gold quality
oral cavity	UBERON:0000167	89.09	gold quality
mammalian vulva	UBERON:0000997	87.17	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.81	gold quality
gall bladder	UBERON:0002110	85.59	gold quality
bone marrow cell	CL:0002092	85.01	gold quality
periodontal ligament	UBERON:0008266	84.67	gold quality
palpebral conjunctiva	UBERON:0001812	84.45	gold quality
bone marrow	UBERON:0002371	84.12	gold quality
mucosa of urinary bladder	UBERON:0001259	82.96	gold quality
cervix squamous epithelium	UBERON:0006922	82.37	silver quality
cervix epithelium	UBERON:0004801	81.83	gold quality
rectum	UBERON:0001052	81.72	gold quality
pharyngeal mucosa	UBERON:0000355	81.39	gold quality
esophagus squamous epithelium	UBERON:0006920	81.36	gold quality
zone of skin	UBERON:0000014	81.24	gold quality
gingiva	UBERON:0001828	80.70	gold quality
epithelium of esophagus	UBERON:0001976	80.52	gold quality
trabecular bone tissue	UBERON:0002483	80.14	gold quality
skin of abdomen	UBERON:0001416	79.83	gold quality
blood	UBERON:0000178	79.29	gold quality
squamous epithelium	UBERON:0006914	79.21	gold quality
skin of leg	UBERON:0001511	79.19	gold quality
penis	UBERON:0000989	78.69	gold quality

Single-cell (SCXA)

Detected in 23 experiment(s), a significant marker in 23.

Experiment	Marker?	Max mean expression
E-GEOD-130148	yes	5647.94
E-MTAB-8322	yes	3035.36
E-GEOD-76312	yes	2855.64
E-GEOD-149689	yes	1752.43
E-MTAB-6701	yes	1637.50
E-MTAB-10432	yes	1406.54
E-GEOD-135922	yes	1259.69
E-MTAB-9435	yes	1255.76
E-CURD-6	yes	1128.87
E-HCAD-36	yes	1095.14
E-MTAB-9067	yes	1085.54
E-CURD-55	yes	989.42
E-MTAB-8884	yes	784.88
E-HCAD-6	yes	406.96
E-HCAD-4	yes	96.65

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ELF1, GATA1, GATA2, SPI1, USF1, USF2, YY1

miRNA regulators (miRDB)

25 targeting FCER1A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-409-3P	99.50	66.33	1192
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-4684-3P	98.24	69.91	1075
HSA-MIR-6869-5P	97.17	67.06	634

Literature-anchored findings (GeneRIF, showing 40)

• x ray crystallography of multiple crystal forms (PMID:11531339)
• homozygosity for the C allele of FcepsilonRI alpha chain variant is associated with lower IgE levels (PMID:12070183)
• Regulation of FcepsilonRI-mediated degranulation by an adaptor protein 3BP2 in rat basophilic leukemia RBL-2H3 cells. (PMID:12200378)
• Transcriptional regulation of the high affinity IgE receptor alpha-chain gene. (PMID:12217383)
• Efficient folding of the FcepsilonRI alpha-chain membrane-proximal domain D2 depends on the presence of the N-terminal domain D1. (PMID:12270716)
• mast cells modulate the immune system following TLR4-mediated activation and FcepsilonRI aggregation (PMID:12855579)
• In clinically uninvolved skin, Langerhans’ cell-surface Fc epsilon RI expression is not only linked to atopic dermatitis but is also generally associated with allergic disease. (PMID:12897750)
• T/C polymorphism in Fc epsilon RI alpha-chain promoter at nucleotide position -66 is associated with allergic diseases in a Japanese population. (PMID:12902495)
• Fc epsilon RI-mediated calcium flux (dependent on PLC gamma 1) leads to degranulation of mast cells independent of PI 3-kinase (PMID:13129935)
• Results indicate that interleukin-4, together with recombinant human stem cell factor, can induce T cell maturation from cord blood progenitor cells, and that IL-4 increased the expression of FcepsilonRI on fetal liver mast cells. (PMID:14746805)
• a combination of FcepsilonRI and Kit-mediated signals and transcriptional processes were required for optimal physiologic responses of human mast cells to antigen (PMID:15217825)
• FcepsilonRI+ on dendretic cells is finely modified by the TGF-beta1 concentration in the microenvironment and could be of primary relevance in the context of atopic diseases. (PMID:15373772)
• Amphiregulin was secreted by human mast cells after aggregation of FcepsilonRI. (PMID:15696081)
• conformational change in IgE is required to allow both Cepsilon3 domains to bind to FcepsilonRI (PMID:15743766)
• Cross-linking of the high affinity IgE receptor (Fc epsilon RI) induces mobilization of free calcium in airway smooth muscle cells, one of the critical signals to trigger smooth muscle contraction. (PMID:16081836)
• TLR9- and FcepsilonRI-mediated responses oppose one another in plasmacytoid dendritic cells by down-regulating receptor expression. (PMID:16237063)
• microarray data identify Lyn as a negative regulator in Ag-stimulated bone marrow-derived mast cells of the expression of genes linked to FcepsilonRI signaling and also to the response pathways that lead to allergy and asthma (PMID:16339523)
• IgE receptor alpha-chain transport is controlled by a multicomponent intracellular retention signal (PMID:16459334)
• Soluble FcepsilonRIalpha is shown to display characteristic properties of a catalyst for the folding of Cepsilon3, with the rate of Cepsilon3 folding being dependent on the concentration of the receptor. (PMID:16563391)
• This and other evidence discussed in this review provide an emerging view of FcepsilonR/IgE network as a critical modulator of ASM cell function in allergic asthma. (PMID:16581830)
• The stalk region of the Fc epsilon receptor I alpha-chain is the portion of the molecule regulating the stability of FceRI on the cell surface. (PMID:16709862)
• Genetic variability of FCER1A exon 2A was evaluated and the -12663 A>G FCER1A polymorphism frequency was determined in a representative sample of whites. (PMID:17165285)
• the plasma membrane distributions of IGE receptor and its cross-talk with formyl peptide receptor (PMID:17267694)
• results replicate finding of higher -344CC genotype frequency in asthmatic patients with lower serum IgE levels; association suggests functional role of -344TT genotype, leading to elevated IgE levels in allergic patients by means of an unknown mechanism (PMID:17521040)
• Using an anti-FcepsilonRI alpha-chain mAb, it was shown that IgE- & high-affinity receptor for IgE (FcepsilonRI)-dependent stimuli can upregulate basophil CD69 expression. (PMID:17541278)
• In caucasian, allergic patients, FCER1A and FCER1B polymorphisms showed an additive association with total serum IgE levels. (PMID:17686114)
• A conservative protein sequence of the high-affinity IgE receptor subunit a, despite its variations in non-coding flanking regions, suggests functional importance of the receptor in the development of adaptive immunity. (PMID:17883736)
• Within regulatory elements of FCER1A some common single nucleotide polymorphisms have functional associations which do not confer susceptibility to allergic diseases, but rather modulate serum concentrations of immunoglobulin E (IgE). [Review] (PMID:17965580)
• Whereas FcvarepsilonRI required Lyn and Syk for NTAL phosphorylation, Kit appeared to directly phosphorylate NTAL (PMID:17993265)
• Siglec-8 ligation was shown to inhibit beta-hexosaminidase release and Ca++ flux triggered through FcepsilonRI in RBL-2H3 cells transfected with full-length human Siglec-8. (PMID:18036650)
• These findings show that the extracellular domain of the type I transmembrane protein Fc epsilon RI alpha plays a role in Fc epsilon RI intracellular processing and expression at the cell surface. (PMID:18179824)
• Canine C epsilon3 is the only domain essential for binding to canine or human Fc epsilon RI alpha, species specific residues in canine Cepsilon2 and C epsilon4 inhibit dissociation of the ligand from the receptor. (PMID:18187193)
• IgG autoantibodies to IgE or its receptor, Fc epsilonRIalpha, have been detected in chronic idiopathic urticaria (CIU) patients. CIU patients’ basophils display distinct altered Fc epsilonRIalpha-mediated degranulation. (PMID:18356810)
• enhanced Fc epsilonRI expression in human neutrophils from allergic asthmatics during the pollen season can make them more susceptible to the biological effects of IgE (PMID:18382690)
• study investigated allelic frequencies, haplotypes and genetic linkage measures of the novel Ex1A polymorphisms in Japanese and compared them with those recalculated in Polish subjects (PMID:18394141)
• A -315 single nucleotide polymorphism (SNP) significantly affects IgE receptor type I (FcERI) alpha-chain promoter activity and expression level of Fc epsilon RI on basophils by binding different transcription factors to the SNP site. (PMID:18523286)
• The FCER1G-237A>G and FCERIA-344C>T polymorphisms may contribute to the development of AIA in a Korean population. (PMID:18595682)
• polymorphisms genotyped in total of 88 Caucasians of the Polish origin were shown to be rare, with minor allele frequencies of 0.023 (-778C) and 0.017 (-673A (PMID:18680511)
• genetic polymorphismn, mutational screening and asthma association studies; review (PMID:18726713)
• Functional variants in the gene were strongly associated with total IgE levels in all cohorts. (PMID:18846228)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fcer1a	ENSMUSG00000005339
rattus_norvegicus	Fcer1a	ENSRNOG00000009177

Paralogs (17): FCGR2B (ENSG00000072694), FCRLA (ENSG00000132185), FCRL2 (ENSG00000132704), FCGR2A (ENSG00000143226), FCRL5 (ENSG00000143297), FCGR1A (ENSG00000150337), FCRL3 (ENSG00000160856), FCRLB (ENSG00000162746), FCGR3B (ENSG00000162747), FCRL4 (ENSG00000163518), FCRL1 (ENSG00000163534), FCRL6 (ENSG00000181036), C17orf99 (ENSG00000187997), FCGR3A (ENSG00000203747), FCGR2C (ENSG00000244682), PECAM1 (ENSG00000261371), MILR1 (ENSG00000271605)

Protein

Protein identifiers

High affinity immunoglobulin epsilon receptor subunit alpha — P12319 (reviewed: P12319)

Alternative names: Fc-epsilon RI-alpha, IgE Fc receptor subunit alpha

All UniProt accessions (2): P12319, E9PRN1

UniProt curated annotations — full annotation on UniProt →

Function. High-affinity receptor for immunoglobulin epsilon/IgE. Mediates IgE effector functions in myeloid cells. Upon IgE binding and antigen/allergen cross-linking initiates signaling pathways that lead to myeloid cell activation and differentiation. On mast cells, basophils and eosinophils stimulates the secretion of vasoactive amines, lipid mediators and cytokines that contribute to inflammatory response, tissue remodeling and cytotoxicity against microbes. Triggers the immediate hypersensitivity response to allergens as a host defense mechanism against helminth parasites, pathogenic bacteria and venom toxicity. When dysregulated, it can elicit harmful life-threatening allergic and anaphylactic reactions.

Subunit / interactions. Tetramer of an alpha chain, a beta chain, and two disulfide linked gamma chains. Interacts with IGHE (via CH3 region).

Subcellular location. Cell membrane.

Tissue specificity. Expressed in eosinophils.

RefSeq proteins (4): NP_001374209, NP_001374210, NP_001374211, NP_001992 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003598	Ig_sub2	Domain
IPR003599	Ig_sub	Domain
IPR007110	Ig-like_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR050488	Ig_Fc_receptor	Family

Pfam: PF13895, PF13927

UniProt features (41 total): strand 19, glycosylation site 7, helix 4, disulfide bond 2, sequence variant 2, topological domain 2, domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

17 structures.

PDB	Method	Resolution (Å)
1F2Q	X-RAY DIFFRACTION	2.4
1RPQ	X-RAY DIFFRACTION	3
8YWA	ELECTRON MICROSCOPY	3.14
1J86	X-RAY DIFFRACTION	3.2
1J87	X-RAY DIFFRACTION	3.2
1J88	X-RAY DIFFRACTION	3.2
2Y7Q	X-RAY DIFFRACTION	3.4
1F6A	X-RAY DIFFRACTION	3.5
8K7R	ELECTRON MICROSCOPY	3.56
8Z0T	ELECTRON MICROSCOPY	3.58
8C1B	ELECTRON MICROSCOPY	3.8
8YVU	ELECTRON MICROSCOPY	3.9
1J89	X-RAY DIFFRACTION	4.1
8C1C	ELECTRON MICROSCOPY	4.1
9EQ3	ELECTRON MICROSCOPY	6.9
7SHT	ELECTRON MICROSCOPY	7.29
9EQ4	ELECTRON MICROSCOPY	8.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12319-F1	84.66	0.63

Antibody-complex structures (SAbDab): 3 — 7SHT, 9EQ3, 9EQ4

Functional residue map

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

Disulfide bonds (2): 51–93, 132–176

Glycosylation sites (7): 99, 160, 165, 191, 46, 67, 75

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2454202	Fc epsilon receptor (FCERI) signaling
R-HSA-2730905	Role of LAT2/NTAL/LAB on calcium mobilization
R-HSA-2871796	FCERI mediated MAPK activation
R-HSA-2871809	FCERI mediated Ca+2 mobilization
R-HSA-2871837	FCERI mediated NF-kB activation

MSigDB gene sets: 196 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, JAEGER_METASTASIS_DN, GCANCTGNY_MYOD_Q6, MODULE_64, GOCC_CELL_SURFACE, MODULE_478, GOBP_VESICLE_MEDIATED_TRANSPORT, AAAYRNCTG_UNKNOWN, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, KEGG_FC_EPSILON_RI_SIGNALING_PATHWAY, GOBP_B_CELL_MEDIATED_IMMUNITY, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE

GO Biological Process (7): cell surface receptor signaling pathway (GO:0007166), immunoglobulin mediated immune response (GO:0016064), type I hypersensitivity (GO:0016068), type 2 immune response (GO:0042092), mast cell degranulation (GO:0043303), eosinophil degranulation (GO:0043308), Fc-epsilon receptor signaling pathway (GO:0038095)

GO Molecular Function (3): high-affinity IgE receptor activity (GO:0019768), IgE binding (GO:0019863), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), cell surface (GO:0009986), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Fc epsilon receptor (FCERI) signaling	4
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
leukocyte degranulation	2
cellular anatomical structure	2
signal transduction	1
B cell mediated immunity	1
hypersensitivity	1
immunoglobulin mediated immune response	1
immune response	1
mast cell activation involved in immune response	1
mast cell mediated immunity	1
lysosome localization	1
establishment of organelle localization	1
eosinophil activation involved in immune response	1
eosinophil mediated immunity	1
Fc receptor signaling pathway	1
IgE receptor activity	1
immunoglobulin binding	1
binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1

Protein interactions and networks

STRING

1884 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FCER1A	FCER1G	P30273	975
FCER1A	MS4A2	Q01362	927
FCER1A	CPA3	P15088	782
FCER1A	MS4A1	P08984	765
FCER1A	FCAR	P24071	739
FCER1A	PAG1	Q9NWQ8	717
FCER1A	LYN	P07948	697
FCER1A	KIT	P10721	678
FCER1A	CLEC4C	Q8WTT0	678
FCER1A	CPA4	Q9UI42	660
FCER1A	LILRA4	P59901	654
FCER1A	DHCR7	Q9UBM7	631
FCER1A	FCAMR	Q8WWV6	550
FCER1A	SYK	P43405	547
FCER1A	ITGAX	P20702	543

IntAct

8 interactions, top by confidence:

A	B	Type	Score
FCER1A	MESD	psi-mi:“MI:0915”(physical association)	0.560
PDHB	FCER1A	psi-mi:“MI:0915”(physical association)	0.370
FCER1A	STX6	psi-mi:“MI:0914”(association)	0.350
FCER1A	PRSS2	psi-mi:“MI:0914”(association)	0.350
FCER1A	RCCD1	psi-mi:“MI:0914”(association)	0.350
FCER1A	MESD	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): FCER1A (Two-hybrid), FCER1A (Two-hybrid), CNNM1 (Affinity Capture-MS), VPS52 (Affinity Capture-MS), TNFSF9 (Affinity Capture-MS), SEMA4C (Affinity Capture-MS), DHFRL1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), ERN1 (Affinity Capture-MS), KDM8 (Affinity Capture-MS), PI4K2B (Affinity Capture-MS), FAM118B (Affinity Capture-MS), KIAA1244 (Affinity Capture-MS), SRC (Affinity Capture-MS), MFAP3 (Affinity Capture-MS)

ESM2 similar proteins: A0A0B4J1G0, A0A0G2KBC9, A3RFZ7, B6A8R8, E2RP87, G1T7E7, G1TR84, H0VDZ8, M3XWH1, O75015, P08101, P08508, P08637, P0DTI4, P12314, P12318, P12319, P12371, P13597, P13598, P20489, P26151, P27645, P31995, P35330, P50283, P51866, P79107, P82957, Q00238, Q08481, Q09TM2, Q09TM4, Q14952, Q28942, Q3B8P2, Q3SWT0, Q5NKV1, Q5NKV2, Q60513

Diamond homologs: A0A0B4J1G0, A3RFZ7, E2RP87, G1T7E7, G1TR84, H0VDZ8, M3XWH1, O75015, P08101, P08508, P08637, P0DTI4, P12314, P12318, P12319, P12371, P20489, P26151, P27645, P31994, P31995, P79107, Q09TM2, Q09TM4, Q28110, Q28942, Q3B8P2, Q5DRQ8, Q60513, Q63203, Q6BAA4, Q6XPU4, Q8SPV8, Q8SPW2, Q920A9, Q92637, Q96PJ5, Q96RD9, Q9N2I5, Q68SN8

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
ELF1	“down-regulates quantity by repression”	FCER1A	“transcriptional regulation”
GATA1	“up-regulates quantity by expression”	FCER1A	“transcriptional regulation”
SPI1	“up-regulates quantity by expression”	FCER1A	“transcriptional regulation”
YY1	“up-regulates quantity by expression”	FCER1A	“transcriptional regulation”
FCER1A	“form complex”	FCER1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	3
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

1265 predictions. Top by Δscore:

Variant	Effect	Δscore
1:159302304:A:G	acceptor_gain	1.0000
1:159303899:T:G	acceptor_gain	1.0000
1:159303909:T:G	acceptor_gain	1.0000
1:159289751:GGG:G	donor_gain	0.9900
1:159289752:GG:G	donor_gain	0.9900
1:159289752:GGG:G	donor_gain	0.9900
1:159289753:GG:G	donor_gain	0.9900
1:159289754:G:GG	donor_gain	0.9900
1:159289754:GTAA:G	donor_loss	0.9900
1:159289755:T:A	donor_loss	0.9900
1:159302296:T:A	acceptor_gain	0.9900
1:159302303:A:AG	acceptor_gain	0.9900
1:159302305:G:GG	acceptor_gain	0.9900
1:159302305:GCCT:G	acceptor_gain	0.9900
1:159303908:A:AG	acceptor_gain	0.9900
1:159303910:A:AG	acceptor_gain	0.9900
1:159303917:T:G	acceptor_gain	0.9900
1:159303923:T:TA	acceptor_gain	0.9900
1:159303926:A:AG	acceptor_gain	0.9900
1:159303927:G:GG	acceptor_gain	0.9900
1:159304179:AGTGG:A	donor_loss	0.9900
1:159304180:GTG:G	donor_gain	0.9900
1:159304180:GTGGT:G	donor_loss	0.9900
1:159304181:TGGTA:T	donor_loss	0.9900
1:159304183:G:T	donor_loss	0.9900
1:159304184:TAA:T	donor_loss	0.9900
1:159304185:AA:A	donor_loss	0.9900
1:159289749:ATGGG:A	donor_gain	0.9800
1:159289750:TGGG:T	donor_gain	0.9800
1:159289751:GGGG:G	donor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000020538 (1:159288572 G>A,C,T), RS1000093390 (1:159300396 A>C,T), RS1000182507 (1:159294159 G>A), RS1000199925 (1:159289801 T>G), RS1000224371 (1:159287431 G>A,T), RS1000274424 (1:159307541 A>C,G,T), RS1000468557 (1:159287832 A>G), RS1000564898 (1:159288903 C>T), RS1000798104 (1:159284567 G>A,C,T), RS1000856592 (1:159302520 A>T), RS1000886233 (1:159302307 C>G), RS1000886983 (1:159282846 A>G), RS1000918099 (1:159295597 A>G), RS1000982748 (1:159294957 C>A), RS1001050064 (1:159308684 C>T)

Disease associations

OMIM: gene MIM:147140 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST000083_16	Select biomarker traits	1.000000e-14
GCST000222_1	IgE levels	2.000000e-20
GCST001316_1	IgE levels	5.000000e-26
GCST001650_1	C-reactive protein	1.000000e-37
GCST001650_11	C-reactive protein	3.000000e-10
GCST001650_8	C-reactive protein	4.000000e-73
GCST001762_307	Obesity-related traits	1.000000e-21
GCST004610_33	White blood cell count	4.000000e-13
GCST007615_56	C-reactive protein levels	1.000000e-16
GCST008514_1	Peginterferon alfa-2a treatment response in chronic hepatitis B infection	5.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0010103	response to peginterferon alfa-2a

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2248 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs2298805	Efficacy	3	desloratadine;mizolastine	Urticaria

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2298805	FCER1A	3	2.00	1	desloratadine;mizolastine
rs2427827	FCER1A		0.00	0
rs2494262	FCER1A		0.00	0
rs10908703	FCER1A		0.00	0

GtoPdb / IUPHAR curated pharmacology

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

Target class: catalytic receptor — Fc epsilon receptors

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
IgE heavy chain	Binding	10.0	pKd

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aspirin	decreases reaction, increases expression, affects response to substance	3
Air Pollutants	decreases expression, affects expression, increases abundance	2
Benzo(a)pyrene	affects methylation, decreases methylation, increases expression	2
triphenyl phosphate	affects expression	1
acetylsalicylic acid lysinate	decreases reaction, increases expression	1
tebuconazole	decreases expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
Allergens	affects cotreatment, decreases expression	1
Arsenic	decreases expression	1
Vehicle Emissions	affects cotreatment, decreases expression	1
Histamine	affects secretion	1
Ozone	affects expression, increases abundance	1
Sarin	increases expression	1
Valproic Acid	decreases methylation	1
Sodium Selenite	increases expression	1
Okadaic Acid	decreases expression	1
Butyric Acid	decreases expression	1
Ketorolac	decreases reaction, increases expression	1

ChEMBL screening assays

7 unique, capped per target: 4 binding, 3 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1060545	Binding	Inhibition of Fc-epsilonR1-mediated [Ca2+]i elevation in anti-human Fc-epsilonR1 antibody-stimulated human KU-812F cells	Inhibitory effects of phloroglucinol derivatives isolated from Ecklonia stolonifera on Fc(epsilon)RI expression. — Bioorg Med Chem
CHEMBL698069	Functional	Inhibition of anti-IgE antibody-stimulated histamine release in human basophills at 10 uM	Novel indolecarboxamidotetrazoles as potential antiallergy agents. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C4MP	RBL SX-38	Cancer cell line
CVCL_C4MQ	RBL-30/25	Cancer cell line
CVCL_C4MR	RBL-hEIalpha-2B12	Cancer cell line

Clinical trials (associated diseases)

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