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    CD19 CD19 molecule [ Homo sapiens (human) ]

    Gene ID: 930, updated on 8-Jul-2021

    Summary

    Official Symbol
    CD19provided by HGNC
    Official Full Name
    CD19 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:1633
    See related
    Ensembl:ENSG00000177455 MIM:107265
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    B4; CVID3
    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]
    Annotation information
    Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in immune response or antiviral activity.
    Expression
    Biased expression in lymph node (RPKM 43.1), spleen (RPKM 28.3) and 3 other tissues See more
    Orthologs
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    Genomic context

    See CD19 in Genome Data Viewer
    Location:
    16p11.2
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (28931735..28939347)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (28943292..28950663)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATP2A1 antisense RNA 1 Neighboring gene ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 Neighboring gene rabaptin, RAB GTPase binding effector protein 2 Neighboring gene nuclear factor of activated T cells 2 interacting protein Neighboring gene microRNA 4517 Neighboring gene sphingolipid transporter 1 (putative)

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Common variable immunodeficiency 2
    MedGen: C3150354 OMIM: 240500 GeneReviews: Not available
    Compare labs
    Common variable immunodeficiency 3
    MedGen: C3150738 OMIM: 613493 GeneReviews: Not available
    Compare labs
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    matrix gag HIV-1 MA increases phosphorylation and the DNA-binding activity of CREB and c-Myc through activation of the cAMP/PKA and MEK/ERK signaling pathways. Both signaling pathways are synergistically activated upon co-stimulation through the CD19 receptor PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC12802

    Gene Ontology Provided by GOA

    General protein information

    Preferred Names
    B-lymphocyte antigen CD19
    Names
    B-lymphocyte surface antigen B4
    T-cell surface antigen Leu-12
    differentiation antigen CD19

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007275.1 RefSeqGene

      Range
      5001..12409
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_35

    mRNA and Protein(s)

    1. NM_001178098.2NP_001171569.1  B-lymphocyte antigen CD19 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK313577, BC006338
      Consensus CDS
      CCDS53998.1
      UniProtKB/Swiss-Prot
      P15391
      Related
      ENSP00000313419.4, ENST00000324662.8
      Conserved Domains (2) summary
      smart00410
      Location:23115
      IG_like; Immunoglobulin like
      cl11960
      Location:22115
      Ig; Immunoglobulin domain
    2. NM_001385732.1NP_001372661.1  B-lymphocyte antigen CD19 isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3) which lacks the first of two N-terminal Ig-like domains, compared to isoform 1.
      Source sequence(s)
      AC109460
      Conserved Domains (1) summary
      cd04979
      Location:93197
      Ig_Semaphorin_C; Immunoglobulin (Ig)-like domain at the C-terminus of semaphorins
    3. NM_001770.6NP_001761.3  B-lymphocyte antigen CD19 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001761.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC006338
      Consensus CDS
      CCDS10644.1
      UniProtKB/Swiss-Prot
      P15391
      Related
      ENSP00000437940.2, ENST00000538922.8
      Conserved Domains (2) summary
      smart00410
      Location:185274
      IG_like; Immunoglobulin like
      cl11960
      Location:22116
      Ig; Immunoglobulin domain

    RNA

    1. NR_169755.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) retains an intron and uses an alternate splice site in the 5' end, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC109460
      Related
      ENST00000565089.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      28931735..28939347
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721103.3XP_006721166.1  B-lymphocyte antigen CD19 isoform X1

      Conserved Domains (2) summary
      smart00410
      Location:96185
      IG_like; Immunoglobulin like
      cl11960
      Location:99173
      Ig; Immunoglobulin domain
    2. XM_011545981.2XP_011544283.1  B-lymphocyte antigen CD19 isoform X3

      Conserved Domains (2) summary
      smart00410
      Location:23115
      IG_like; Immunoglobulin like
      cl11960
      Location:22115
      Ig; Immunoglobulin domain

    RNA

    1. XR_950871.2 RNA Sequence

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