CD19

CD19 molecule

Summary

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]

Known Variants307 total

rsidPosition (GRCh37)AllelesClassClinVar
rs20108192616:28,943,306G/A—uncertain significance
rs55645782316:28,943,334C/T—conflicting classifications of pathogenicity
rs78176459616:28,943,335G/A—uncertain significance
rs88605188616:28,943,338T/G—uncertain significance
rs156750399316:28,943,345C/A—uncertain significance
rs14386159216:28,943,351C/T—benign
rs74944158316:28,943,352C/T—uncertain significance
rs103116889016:28,943,363C/T—likely benign
rs74568119016:28,943,368T/C—likely benign
rs119958347216:28,943,381C/T—likely benign
rs77192965716:28,943,382G/C—uncertain significance
rs250645228316:28,943,390T/G—likely benign
rs250645244516:28,943,423G/A—likely benign
rs15125876416:28,943,672G/A—uncertain significance
rs76796141716:28,943,677C/T—likely benign
rs141739511316:28,943,681G/A—uncertain significance
rs93415141016:28,943,686G/A—likely benign
rs90679395916:28,943,697A/G—uncertain significance
rs215222818416:28,943,706C/A—pathogenic
rs76103920816:28,943,708G/T—uncertain significance
rs37596505516:28,943,718C/A—uncertain significance
rs14044503916:28,943,725G/A—conflicting classifications of pathogenicity
rs88603792016:28,943,734G/Cmissense variantpathogenic
rs75866266916:28,943,738C/T—uncertain significance
rs215222821916:28,943,743G/A—likely benign
rs74683106316:28,943,746C/T—likely benign
rs18506261316:28,943,748C/T—uncertain significance
rs19966570016:28,943,749G/A—conflicting classifications of pathogenicity
rs101061159116:28,943,756C/T—uncertain significance
rs134987826316:28,943,757C/G—uncertain significance
rs250645436416:28,943,768C/T—uncertain significance
rs14525520516:28,943,772G/A—uncertain significance
rs250645448816:28,943,787G/A—uncertain significance
rs99969205916:28,943,806G/T—uncertain significance
rs77566073916:28,943,809C/A—likely benign
rs136698400016:28,943,811T/C—uncertain significance
rs76110605416:28,943,815C/T—likely benign
rs250645477616:28,943,817T/C—uncertain significance
rs196466539116:28,943,824T/C—uncertain significance
rs77718618316:28,943,836C/T—likely benign
rs146806460316:28,943,842T/G—likely benign
rs75855543316:28,943,852G/T—likely pathogenic
rs75179183416:28,943,864C/A—uncertain significance
rs78089709516:28,943,872G/A—likely benign
rs36819679616:28,943,875G/A—likely benign
rs75429395016:28,943,883C/G—likely benign
rs117128812116:28,943,884C/T—likely benign
rs36785887016:28,943,894G/T—uncertain significance
rs159671278316:28,943,899G/A—likely pathogenic
rs77690304916:28,943,901A/C—conflicting classifications of pathogenicity
rs215222836716:28,943,902G/A—likely benign
rs53364879516:28,943,903C/T—uncertain significance
rs196466961316:28,943,914A/G—likely benign
rs55866006216:28,943,919A/G—uncertain significance
rs37157591916:28,943,932C/T—uncertain significance
rs140082978716:28,943,933G/A—uncertain significance
rs76642339016:28,943,942C/T—likely benign
rs75178326816:28,943,943G/A—likely benign
rs37690935216:28,943,947T/C—likely benign
rs7901892216:28,944,204C/G—benign
rs143268576216:28,944,216C/A—likely benign
rs250645761616:28,944,217T/C—likely benign
rs133077808916:28,944,219G/T—likely benign
rs134612880916:28,944,243C/T—uncertain significance
rs37356310416:28,944,244G/A—uncertain significance
rs14234292716:28,944,257G/A—likely benign
rs20074873116:28,944,260C/T—conflicting classifications of pathogenicity
rs215222863116:28,944,261C/T—likely benign
rs57315478116:28,944,266T/A—conflicting classifications of pathogenicity
rs14679566416:28,944,271T/G—conflicting classifications of pathogenicity
rs11776922016:28,944,282C/T—likely benign
rs196468464416:28,944,293G/A—likely benign
rs7907364616:28,944,295C/T—uncertain significance
rs75247471916:28,944,296C/T—likely benign
rs250645820516:28,944,297T/A—uncertain significance
rs215222867816:28,944,315C/G—uncertain significance
rs37490644416:28,944,320C/T—likely benign
rs74928158016:28,944,321G/A—uncertain significance
rs14376963316:28,944,350G/A—likely benign
rs77234612816:28,944,364G/A—uncertain significance
rs75372185416:28,944,371G/T—uncertain significance
rs89609819716:28,944,391C/T—uncertain significance
rs290488016:28,944,396C/Gmissense variantbenign
rs123322981416:28,944,398C/T—likely benign
rs14820056916:28,944,403C/T—uncertain significance
rs56831245016:28,944,404G/A—likely benign
rs156750489316:28,944,406G/C—uncertain significance
rs159671366416:28,944,408G/A—uncertain significance
rs74962605916:28,944,428C/G—likely benign
rs131332187416:28,944,446G/T—likely benign
rs74644503816:28,944,447A/G—likely benign
rs77575710316:28,944,455G/C—likely benign
rs75755051616:28,944,547T/C—likely benign
rs77938429716:28,944,566G/A—uncertain significance
rs78023642416:28,944,598G/A—likely benign
rs93559732216:28,944,613T/C—likely benign
rs124984031616:28,944,620A/G—uncertain significance
rs99278387416:28,944,622G/C—uncertain significance
rs196469576316:28,944,626C/T—uncertain significance
rs196469596916:28,944,635T/C—uncertain significance

Showing 100 of 307 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.