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CEACAM5

Synonyms
CD66e, CEA
External resources
Summary
This gene encodes a cell surface glycoprotein that represents the founding member of the carcinoembryonic antigen (CEA) family of proteins. The encoded protein is used as a clinical biomarker for gastrointestinal cancers and may promote tumor development through its role as a cell adhesion molecule. Additionally, the encoded protein may regulate differentiation, apoptosis, and cell polarity. This gene is present in a CEA family gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants.

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
5
Likely pathogenic
0
VUS
2,139
Likely benign
396
Benign
0

Patient Phenotypes

Proportions of phenotypes among 5 patients carrying pathogenic or likely pathogenic variants on CEACAM5 gene are displayed below. The following symptoms were found in patients with a variant in CEACAM5. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
60%
Abnormality of head or neck
40%
Abnormality of the musculoskeletal system
40%
Abnormality of metabolism homeostasis
20%
Abnormality of the digestive system
20%
Abnormality of the ear
20%
Abnormality of the eye
20%
Abnormality of the genitourinary system
20%
Abnormality of the immune system
20%
Abnormality of the respiratory system
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of limbs
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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