FCER1A

Chr 1

Fc epsilon receptor Ia

Also known as: FCE1A, FCERIA, FcERI

NCBI Gene: 2205ENSG00000179639UniProt: P12319OMIM: 147140

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. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
28
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.37LOEUF
pLI 0.000
Z-score 0.72
OE 0.76 (0.45–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.42Z-score
OE missense 1.10 (0.96–1.27)
144 obs / 130.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.76 (0.45–1.37)
0≤0.351.4
Missense OE?1.10 (0.96–1.27)
0≤0.61.4
Synonymous OE?1.10
0≤1.21.6
LoF obs/exp: 8 / 10.5Missense obs/exp: 144 / 130.6Syn Z: -0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FCER1A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients