MS4A1

B-lymphocyte-specific membrane protein that plays a role in the regulation of cellular calcium influx necessary for the development, differentiation, and activation of B-lymphocytes (PubMed:12920111, PubMed:3925015, PubMed:7684739). Functions as a store-operated calcium (SOC) channel component promoting calcium influx after activation by the B-cell receptor/BCR (PubMed:12920111, PubMed:18474602, PubMed:7684739).

Immunodeficiency, common variable, 5

CVID5

A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.

None

The disease is caused by variants affecting the gene represented in this entry.

Phosphorylated on serines and threonines in resting B-cells. Protein kinase C/PKC can use CD20 as substrate.

Belongs to the MS4A family.

Expressed on B-cells.

• Cell membrane
• Multi-pass membrane protein
• Cell membrane
• Lipid-anchor
• Constitutively associated with membrane rafts.

CD20, MS4A1, B-lymphocyte antigen CD20, B-lymphocyte surface antigen B1, Bp35, Leukocyte surface antigen Leu-16, Membrane-spanning 4-domains subfamily A member 1

• entrezGene:931
• omim:112210
• swissprot:P11836

Proteins

Immunology & Infectious Disease

• Immuno-oncology
• Neuroscience

33077Da