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FCAR

Synonyms
CD89, CTB-61M7.2, FcalphaRI
External resources
Summary
This gene is a member of the immunoglobulin gene superfamily and encodes a receptor for the Fc region of IgA. The receptor is a transmembrane glycoprotein present on the surface of myeloid lineage cells such as neutrophils, monocytes, macrophages, and eosinophils, where it mediates immunologic responses to pathogens. It interacts with IgA-opsonized targets and triggers several immunologic defense processes, including phagocytosis, antibody-dependent cell-mediated cytotoxicity, and stimulation of the release of inflammatory mediators. Multiple alternatively spliced transcript variants encoding different isoforms have been described for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
61
Likely pathogenic
0
VUS
2,191
Likely benign
111
Benign
0

Patient phenotypes

Proportions of phenotypes among 61 patients carring pathogenic or likely pathogenic variants on FCAR gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.7%
Abnormality of the musculoskeletal system
34.4%
Abnormality of head or neck
21.3%
Abnormality of the eye
19.7%
Abnormality of the ear
16.4%
Growth abnormality
16.4%
Abnormality of the cardiovascular system
14.8%
Abnormality of the integument
9.8%
Abnormality of the digestive system
6.6%
Neoplasm
3.3%
Abnormality of limbs
1.6%
Abnormality of the breast
1.6%
Abnormality of the endocrine system
1.6%
Abnormality of the genitourinary system
1.6%
Abnormality of the immune system
1.6%
Abnormality of the respiratory system
1.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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