Home > Gene Browser > CD48

CD48

Synonyms
BCM1, BLAST, BLAST1, MEM-102, SLAMF2, hCD48, mCD48
External resources
Summary
This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found 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
12
Likely pathogenic
1,977
VUS
1,507
Likely benign
285
Benign
0

Patient phenotypes

Proportions of phenotypes among 1988 patients carring pathogenic or likely pathogenic variants on CD48 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
37.4%
Abnormality of the musculoskeletal system
23.9%
Abnormality of the cardiovascular system
19.7%
Abnormality of head or neck
19.2%
Abnormality of the eye
16.2%
Abnormality of the ear
15.5%
Growth abnormality
12.7%
Abnormality of the genitourinary system
10.2%
Abnormality of the integument
7.2%
Abnormality of limbs
6.7%
Abnormality of the digestive system
6.5%
Abnormality of blood and blood-forming tissues
6.1%
Abnormality of the immune system
5.6%
Abnormality of prenatal development or birth
2.8%
Abnormality of the respiratory system
2.8%
Abnormality of the endocrine system
2.6%
Neoplasm
2.4%
Constitutional symptom
1%
Abnormal cellular phenotype
0.5%
Abnormality of the breast
0.3%
Abnormality of the voice
0.2%
Abnormality of the thoracic cavity
0.1%
Abnormality of metabolism homeostasis
0%

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