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CEACAM1

Synonyms
BGP, BGP1, BGPI
External resources
Summary
This gene encodes a member of the carcinoembryonic antigen (CEA) gene family, which belongs to the immunoglobulin superfamily. Two subgroups of the CEA family, the CEA cell adhesion molecules and the pregnancy-specific glycoproteins, are located within a 1.2 Mb cluster on the long arm of chromosome 19. Eleven pseudogenes of the CEA cell adhesion molecule subgroup are also found in the cluster. The encoded protein was originally described in bile ducts of liver as biliary glycoprotein. Subsequently, it was found to be a cell-cell adhesion molecule detected on leukocytes, epithelia, and endothelia. The encoded protein mediates cell adhesion via homophilic as well as heterophilic binding to other proteins of the subgroup. Multiple cellular activities have been attributed to the encoded protein, including roles in the differentiation and arrangement of tissue three-dimensional structure, angiogenesis, apoptosis, tumor suppression, metastasis, and the modulation of innate and adaptive immune responses. Multiple transcript variants encoding different isoforms have been reported, but the full-length nature of all variants has not been defined.

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
10
Likely pathogenic
0
VUS
1,234
Likely benign
52
Benign
0

Patient Phenotypes

Proportions of phenotypes among 10 patients carrying pathogenic or likely pathogenic variants on CEACAM1 gene are displayed below. The following symptoms were found in patients with a variant in CEACAM1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
30%
Abnormality of the eye
30%
Abnormality of the musculoskeletal system
30%
Growth abnormality
30%
Abnormality of blood and blood forming tissues
20%
Abnormality of the nervous system
20%
Abnormality of metabolism homeostasis
10%
Abnormality of prenatal development or birth
10%
Abnormality of the digestive system
10%
Abnormality of the ear
10%
Abnormal cellular phenotype
0%
Abnormality of limbs
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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