FCER1A (Fc epsilon receptor Ia)

Gene Gene information from NCBI Gene database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2205
Gene name Fc epsilon receptor Ia
Gene symbol FCER1A
Synonyms (NCBI Gene)
FCE1AFCERIAFcERI
Chromosome 1
Chromosome location 1q23.2
Summary 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 s
Transcription factors Transcription factors information provided by TRRUST V2 database.
9
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
Transcription factor Regulation Reference
ELF1 Repression 11971001
GATA1 Activation 11971001
GATA1 Unknown 24639354
GATA2 Activation 24639354
SPI1 Activation 11971001
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10917520, 32296183
GO:0005886 Component Plasma membrane IDA 8114916, 8551243
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 2964640
GO:0007166 Process Cell surface receptor signaling pathway IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
147140 3609 ENSG00000179639
Protein Protein information from UniProt database.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12319
Protein name High affinity immunoglobulin epsilon receptor subunit alpha (Fc-epsilon RI-alpha) (FcERI) (IgE Fc receptor subunit alpha)
Protein 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. O
PDB 1F2Q , 1F6A , 1J86 , 1J87 , 1J88 , 1J89 , 1RPQ , 2Y7Q , 7SHT , 8C1B , 8C1C , 8K7R , 8YVU , 8YWA , 8Z0T , 9EQ3 , 9EQ4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 29 → 96 Domain
PF13895 Ig_2 112 → 194 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in eosinophils. {ECO:0000269|PubMed:8114916}.
Sequence 
MAPAMESPTLLCVALLFFAPDGVLAVPQKPKVSLNPPWNRIFKGENVTLTCNGNNFFEVS
STKWFHNGSLSEETNSSLNIVNAKFEDSGEYKCQHQQVNESEPVYLEVFSDWLLLQASAE
VVMEGQPLFLRCHGWRNWDVYKVIYYKDGEALKYWYENHNISITNATVEDSGTYYCTGKV
WQLDYESEPLNITVIKAPREKYWLQFFIPLLVVILFAVDTGLFISTQQQVTFLLKIKRTR
KGFRLLNPHPKPNPKNN
Sequence length 257
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Sphingolipid signaling pathway
Phospholipase D signaling pathway
Fc epsilon RI signaling pathway
Asthma 		  Fc epsilon receptor (FCERI) signaling
Role of LAT2/NTAL/LAB on calcium mobilization
FCERI mediated MAPK activation
FCERI mediated Ca+2 mobilization
FCERI mediated NF-kB activation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
URTICARIA — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (51)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 21209833, 8543773
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 20028371
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31666081, 9394977 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 24963147
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplasia of Lacrimal and Salivary Glands Aplasia of lacrimal and salivary glands Pubtator 34750466 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 20133791, 23055095 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 11150000, 16364194, 18595682, 23725541
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma LHGDN 16339523, 16581830
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 17372017, 18382690, 19359220, 24722483, 31524265, 33878997, 40534099 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 19514647, 35933036 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only