MS4A1 gene

membrane spanning 4-domains A1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the membrane-spanning 4A gene family. Members of this nascent protein family are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns among hematopoietic cells and nonlymphoid tissues. This gene encodes a B-lymphocyte surface molecule which plays a role in the development and differentiation of B-cells into plasma cells. This family member is localized to 11q12, among a cluster of family members. Alternative splicing of this gene results in two transcript variants which encode the same protein. [provided by RefSeq, Jul 2008]

From UniProt:

This protein may be involved in the regulation of B-cell activation and proliferation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Common variable immunodeficiency 5

From UniProt:

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. [MIM:613495]

Cytogenetic Location: 11q12, which is the long (q) arm of chromosome 11 at position 12

Molecular Location: base pairs 60,455,809 to 60,470,752 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q12, which is the long (q) arm of chromosome 11 at position 12
  • B1
  • Bp35
  • CD20
  • CVID5
  • LEU-16
  • MS4A2
  • S7