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Gene : CD19 Homo sapiens

Name  ? CD19 molecule Cytological Location  16p11.2
Brief Description  CD19 molecule
Description  This gene encodes a member of the immunoglobulin gene superfamily. Expression of this cell surface protein is restricted to B cell lymphocytes. This protein is a reliable marker for pre-B cells but its expression diminishes during terminal B cell differentiation in antibody secreting plasma cells. The protein has two N-terminal extracellular Ig-like domains separated by a non-Ig-like domain, a hydrophobic transmembrane domain, and a large C-terminal cytoplasmic domain. This protein forms a complex with several membrane proteins including complement receptor type 2 (CD21) and tetraspanin (CD81) and this complex reduces the threshold for antigen-initiated B cell activation. Activation of this B-cell antigen receptor complex activates the phosphatidylinositol 3-kinase signalling pathway and the subsequent release of intracellular stores of calcium ions. This protein is a target of chimeric antigen receptor (CAR) T-cells used in the treatment of lymphoblastic leukemia. Mutations in this gene are associated with the disease common variable immunodeficiency 3 (CVID3) which results in a failure of B-cell differentiation and impaired secretion of immunoglobulins. CVID3 is characterized by hypogammaglobulinemia, an inability to mount an antibody response to antigen, and recurrent bacterial infections. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2020]
  • synonyms:
  • B4,
  • CD19,
  • HGNC:1633,
  • uc002drs.4,
  • OTTHUMG00000097049,
  • NM_001178098,
  • CVID3,
  • CD19 antigen
  • identifiers:
  • 930,
  • ENSG00000177455,
  • CD19

Genome feature

Region: gene ? Length: 7613  
Location: 16:28931735-28939347 Cyto location: 16p11.2


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Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

5 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results