CD19 Gene (Protein Coding)

CD19 Molecule

GC16P029762
GIFtS:
50
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-I... See more...

Aliases for CD19 Gene

Aliases for CD19 Gene

  • CD19 Molecule 2 3 5
  • B-Lymphocyte Surface Antigen B4 3 4
  • T-Cell Surface Antigen Leu-12 3 4
  • Differentiation Antigen CD19 3 4
  • B-Lymphocyte Antigen CD19 3 4
  • CD19 Antigen 2 4
  • CVID3 3
  • CD19 5
  • B4 3

External Ids for CD19 Gene

Previous GeneCards Identifiers for CD19 Gene

  • GC16U990011
  • GC16P029266
  • GC16P028941
  • GC16P028980
  • GC16P028850
  • GC16P028943
  • GC16P026811
  • GC16P029083
  • GC16P029293

Summaries for CD19 Gene

Entrez Gene Summary for CD19 Gene

  • 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]

GeneCards Summary for CD19 Gene

CD19 (CD19 Molecule) is a Protein Coding gene. Diseases associated with CD19 include Immunodeficiency, Common Variable, 3 and Common Variable Immunodeficiency. Among its related pathways are RET signaling and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity, downstream of receptor.

UniProtKB/Swiss-Prot Summary for CD19 Gene

  • Functions as coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes. Decreases the threshold for activation of downstream signaling pathways and for triggering B-cell responses to antigens (PubMed:2463100, PubMed:1373518, PubMed:16672701). Activates signaling pathways that lead to the activation of phosphatidylinositol 3-kinase and the mobilization of intracellular Ca(2+) stores (PubMed:9382888, PubMed:9317126, PubMed:12387743, PubMed:16672701). Is not required for early steps during B cell differentiation in the blood marrow (PubMed:9317126). Required for normal differentiation of B-1 cells (By similarity). Required for normal B cell differentiation and proliferation in response to antigen challenges (PubMed:2463100, PubMed:1373518). Required for normal levels of serum immunoglobulins, and for production of high-affinity antibodies in response to antigen challenge (PubMed:9317126, PubMed:12387743, PubMed:16672701).

Gene Wiki entry for CD19 Gene

Additional gene information for CD19 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD19 Gene

Genomics for CD19 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CD19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD19 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD19

Top Transcription factor binding sites by QIAGEN in the CD19 gene promoter:
  • AP-1
  • ATF
  • ATF-2
  • c-Jun
  • CRE-BP1
  • STAT1
  • STAT1alpha
  • STAT3

Genomic Locations for CD19 Gene

Latest Assembly
chr16:28,931,735-28,939,347
(GRCh38/hg38)
Size:
7,613 bases
Orientation:
Plus strand

Previous Assembly
chr16:28,943,292-28,950,663
(GRCh37/hg19 by Entrez Gene)
Size:
7,372 bases
Orientation:
Plus strand

chr16:28,943,260-28,950,667
(GRCh37/hg19 by Ensembl)
Size:
7,408 bases
Orientation:
Plus strand

Genomic View for CD19 Gene

Genes around CD19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD19 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CD19 Gene

Proteins for CD19 Gene

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  • Protein details for CD19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15391-CD19_HUMAN
    Recommended name:
    B-lymphocyte antigen CD19
    Protein Accession:
    P15391
    Secondary Accessions:
    • A0N0P9
    • F5H635
    • Q96S68
    • Q9BRD6

    Protein attributes for CD19 Gene

    Size:
    556 amino acids
    Molecular mass:
    61128 Da
    Quaternary structure:
    • Interacts with CR2/CD21 (PubMed:1702139). Part of a complex composed of CD19, CR2/CD21, CD81 and IFITM1/CD225 in the membrane of mature B-cells (PubMed:1383329). Interacts directly with CD81 (via the second extracellular domain); this interaction is initiated early during biosynthesis in the ER/pre-Golgi compartments and is essential for trafficking and compartmentalization of CD19 receptor on the cell surface of activated B cells (PubMed:16449649). Interacts with VAV (PubMed:10706702). Interacts with GRB2 and SOS when phosphorylated on Tyr-348 and/or Tyr-378. Interacts with PLCG2 when phosphorylated on Tyr-409 (PubMed:10706702). Interacts with LYN (PubMed:7687428). Interacts (when tyrosine phosphorylated) with the regulatory p85 subunit of phosphatidylinositol 3-kinase (PIK3R1 or PIK3R2) (PubMed:7684160).
    SequenceCaution:
    • Sequence=AAA35533.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CD19 Gene

    Alternative splice isoforms for CD19 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD19 Gene

Protein Expression for CD19 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CD19 Gene

  • Phosphorylated on tyrosine following B-cell activation (PubMed:7684160, PubMed:7687539, PubMed:10706702, PubMed:12387743). Phosphorylated on tyrosine residues by LYN (PubMed:7687428). Tyrosine residues are phosphorylated sequentially after activation of the B cell receptor. Phosphorylation of Tyr-531 is extremely rapid, followed by phosphorylation at Tyr-409. In contrast, phosphorylation of Tyr-500 appears more slowly and is more transient, returning rapidly to basal levels (By similarity).
  • Glycosylation at Asn86, Asn125, Asn138, Asn181, and Asn265
  • Modification sites at PhosphoSitePlus

Other Protein References for CD19 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for CD19

Protein products for research

  • Abcam proteins for CD19

No data available for DME Specific Peptides for CD19 Gene

Domains & Families for CD19 Gene

Gene Families for CD19 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • FDA approved drug targets
  • Predicted membrane proteins

Protein Domains for CD19 Gene

InterPro:
Blocks:
  • Immunoglobulin subtype

Suggested Antigen Peptide Sequences for CD19 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60916, highly similar to B-lymphocyte antigen CD19 (B4DW45_HUMAN)
  • cDNA FLJ54955, highly similar to B-lymphocyte antigen CD19 (B4E2W1_HUMAN)
  • T-cell surface antigen Leu-12 (CD19_HUMAN)
  • cDNA FLJ27147 fis, clone SPL09574, highly similar to B-lymphocyte antigen CD19 (Q6ZNU2_HUMAN)
  • CD19 (Q71UW0_HUMAN)
genes like me logo Genes that share domains with CD19: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CD19 Gene

Function for CD19 Gene

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  6. Cell Lines for research

Molecular function for CD19 Gene

UniProtKB/Swiss-Prot Function:
Functions as coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes. Decreases the threshold for activation of downstream signaling pathways and for triggering B-cell responses to antigens (PubMed:2463100, PubMed:1373518, PubMed:16672701). Activates signaling pathways that lead to the activation of phosphatidylinositol 3-kinase and the mobilization of intracellular Ca(2+) stores (PubMed:9382888, PubMed:9317126, PubMed:12387743, PubMed:16672701). Is not required for early steps during B cell differentiation in the blood marrow (PubMed:9317126). Required for normal differentiation of B-1 cells (By similarity). Required for normal B cell differentiation and proliferation in response to antigen challenges (PubMed:2463100, PubMed:1373518). Required for normal levels of serum immunoglobulins, and for production of high-affinity antibodies in response to antigen challenge (PubMed:9317126, PubMed:12387743, PubMed:16672701).
GENATLAS Biochemistry:
cell differentiation antigen CD19,95kDa,B cell surface membrane protein PAX5 (BSAP) dependent,identified by monoclonal antibodies B4,HD37 and others ,linked to the integrin associated CD9,CD81,KAI1

Phenotypes From GWAS Catalog for CD19 Gene

Gene Ontology (GO) - Molecular Function for CD19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19214191
genes like me logo Genes that share ontologies with CD19: view
genes like me logo Genes that share phenotypes with CD19: view

Human Phenotype Ontology for CD19 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD19 Gene

MGI Knock Outs for CD19:
  • Cd19 Cd19<tm1.1Oao>
  • Cd19 Cd19<tm1Tft>
  • Cd19 Cd19<tm1(cre/ERT2)Rsky>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD19

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD19 Gene

Localization for CD19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD19 Gene

Cell membrane. Single-pass type I membrane protein. Membrane raft. Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD19 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
endoplasmic reticulum 3
cytosol 3
mitochondrion 2
endosome 2
lysosome 2
golgi apparatus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CD19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 16672701
GO:0009897 external side of plasma membrane IDA 17213291
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CD19: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD19 Gene

Pathways & Interactions for CD19 Gene

genes like me logo Genes that share pathways with CD19: view

Pathways by source for CD19 Gene

1 Sino Biological pathway for CD19 Gene
2 BioSystems pathways for CD19 Gene
2 GeneGo (Thomson Reuters) pathways for CD19 Gene
  • G-protein signaling_Regulation of RAC1 activity
  • Immune response BCR pathway
3 Qiagen pathways for CD19 Gene
  • IP3 Pathway
  • p70S6K Signaling
  • PI3K Signaling in B-Lymphocyte
1 Cell Signaling Technology pathway for CD19 Gene

SIGNOR curated interactions for CD19 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CD19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001923 B-1 B cell differentiation IEA --
GO:0002250 adaptive immune response IEA --
GO:0002322 B cell proliferation involved in immune response IMP 16672701
GO:0002376 immune system process IEA --
GO:0016064 immunoglobulin mediated immune response IMP 16672701
genes like me logo Genes that share ontologies with CD19: view

Drugs & Compounds for CD19 Gene

Products:

  1. Drug products for research

(61) Drugs for CD19 Gene - From: DrugBank, ClinicalTrials, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludarabine Approved Pharma DNA synthsis inhibitor 1633,1633
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2106
Tyrosine Approved, Investigational Nutra 1149
Axicabtagene ciloleucel Approved Pharma Target, antibody 0
Blinatumomab Approved, Investigational Pharma Target, activator 80

(3) Additional Compounds for CD19 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD19: view

Transcripts for CD19 Gene

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mRNA/cDNA for CD19 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD19

Alternative Splicing Database (ASD) splice patterns (SP) for CD19 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - -
SP2: - - - - -
SP3: - - - -
SP4: -
SP5: - -
SP6:

Relevant External Links for CD19 Gene

GeneLoc Exon Structure for
CD19

Expression for CD19 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD19 Gene

mRNA expression in normal human tissues for CD19 Gene
mRNA expression by BioGPS for CD19 GenemRNA expression by GTEx for CD19 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD19 Gene

This gene is overexpressed in Spleen (x19.9) and Small Intestine - Terminal Ileum (x10.1).

Protein differential expression in normal tissues from HIPED for CD19 Gene

This gene is overexpressed in Blymphocyte (29.0), Lymph node (26.7), and Peripheral blood mononuclear cells (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD19 Gene



Protein tissue co-expression partners for CD19 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD19

SOURCE GeneReport for Unigene cluster for CD19 Gene:

Hs.652262

mRNA Expression by UniProt/SwissProt for CD19 Gene:

P15391-CD19_HUMAN
Tissue specificity: Detected on marginal zone and germinal center B cells in lymph nodes (PubMed:2463100). Detected on blood B cells (at protein level) (PubMed:2463100, PubMed:16672701).

Evidence on tissue expression from TISSUES for CD19 Gene

  • Spleen(4.8)
  • Blood(4.8)
  • Lymph node(3.8)
  • Bone marrow(3.5)
  • Intestine(3.3)
  • Heart(2.7)
  • Lung(2.6)
  • Liver(2.5)
  • Skin(2.5)
  • Bone(2.5)
  • Nervous system(2.5)
  • Kidney(2.5)
  • Muscle(2.5)
  • Stomach(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD19 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • meninges
  • middle ear
  • neck
  • pituitary gland
  • sinus
  • skull
  • thyroid
Thorax:
  • bronchus
  • heart
  • lung
Abdomen:
  • adrenal gland
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • anus
  • rectum
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with CD19: view

Primer products for research

Orthologs for CD19 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD19 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CD19 29 30
  • 98.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CD19 29 30
  • 81.45 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CD19 29 30
  • 78.37 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cd19 29 16 30
  • 76.29 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cd19 29
  • 75.46 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 30
  • 41 (a)
 OneToMany
-- 30
  • 34 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia CD19 30
  • 23 (a)
 OneToOne
Species where no ortholog for CD19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for CD19 Gene

ENSEMBL:
Gene Tree for CD19 (if available)
TreeFam:
Gene Tree for CD19 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD19: view image
Alliance of Genome Resources:
Additional Orthologs for CD19

Paralogs for CD19 Gene

No data available for Paralogs for CD19 Gene

Variants for CD19 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD19 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
1013096 Uncertain Significance: not provided 28,932,427(+) C/T
NM_001770.6(CD19):c.170C>T (p.Pro57Leu) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1015390 Uncertain Significance: not provided 28,938,940(+) A/G
NM_001770.6(CD19):c.1648A>G (p.Met550Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1017841 Uncertain Significance: not provided 28,935,491(+) G/A
NM_001770.6(CD19):c.883G>A (p.Val295Met) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1020999 Uncertain Significance: not provided 28,932,490(+) T/C
NM_001770.6(CD19):c.233T>C (p.Leu78Pro) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1033867 Uncertain Significance: Common variable immunodeficiency 3 28,932,485(+) G/T
NM_001770.6(CD19):c.228G>T (p.Arg76Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD19 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CD19 Gene

Variant ID Type Subtype PubMed ID
dgv2830n100 CNV gain 25217958
dgv2831n100 CNV gain 25217958
dgv4987n54 CNV gain 21841781
esv2758640 CNV gain+loss 17122850
esv3570454 CNV gain 25503493
esv3892826 CNV gain+loss 25118596
nsv1059555 CNV gain 25217958
nsv518648 CNV loss 19592680
nsv519100 CNV gain 19592680
nsv571805 CNV loss 21841781

Variation tolerance for CD19 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.61; 45.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD19 Gene

Human Gene Mutation Database (HGMD)
CD19
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD19
Leiden Open Variation Database (LOVD)
CD19

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD19 Gene

Disorders for CD19 Gene

MalaCards: The human disease database

(109) MalaCards diseases for CD19 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search CD19 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CD19_HUMAN
  • Immunodeficiency, common variable, 3 (CVID3) [MIM:613493]: 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. {ECO:0000269 PubMed:16672701}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for CD19

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD19: view

No data available for Genatlas for CD19 Gene

Publications for CD19 Gene

  1. An antibody-deficiency syndrome due to mutations in the CD19 gene. (PMID: 16672701) van Zelm MC … Franco JL (The New England journal of medicine 2006) 3 4 72
  2. Polymorphisms of human CD19 gene: possible association with susceptibility to systemic lupus erythematosus in Japanese. (PMID: 12215898) Kuroki K … Tokunaga K (Genes and immunity 2002) 3 4 40
  3. Structure of the genes encoding the CD19 antigen of human and mouse B lymphocytes. (PMID: 1370948) Zhou LJ … Tedder TF (Immunogenetics 1992) 3 4 22
  4. Individual and epistatic effects of genetic polymorphisms of B-cell co-stimulatory molecules on susceptibility to pemphigus foliaceus. (PMID: 19421221) Malheiros D … Petzl-Erler ML (Genes and immunity 2009) 3 40
  5. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PMID: 18174230) Miyagawa H … Horiuchi T (Rheumatology (Oxford, England) 2008) 3 40

ExternalLinks

View latest publications for CD19 gene in Mastermind

Products for CD19 Gene

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