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CD19 Gene(Protein Coding)

CD19 Molecule

GCID:
GC16P028943
GIFtS:
60
Genes Participants
UDN Logo

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
  • CD19 Antigen 2 4
  • B-Lymphocyte Antigen CD19 3
  • CVID3 3
  • B4 3

External Ids for CD19 Gene

Previous GeneCards Identifiers for CD19 Gene

  • GC16U990011
  • GC16P029266
  • GC16P028941
  • GC16P028980
  • GC16P028850
  • GC16P026811

Summaries for CD19 Gene

Entrez Gene Summary for CD19 Gene

  • Lymphocytes proliferate and differentiate in response to various concentrations of different antigens. The ability of the B cell to respond in a specific, yet sensitive manner to the various antigens is achieved with the use of low-affinity antigen receptors. This gene encodes a cell surface molecule which assembles with the antigen receptor of B lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation. [provided by RefSeq, Jul 2008]

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 Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include signal transducer activity, downstream of receptor.

UniProtKB/Swiss-Prot for CD19 Gene

  • Assembles with the antigen receptor of B-lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation.

Gene Wiki entry for CD19 Gene

Additional gene information for CD19 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD19 Gene

Genomics for CD19 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CD19 Gene

Promoters and enhancers for CD19 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I028930 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 550.8 -0.1 -137 3.5 PKNOX1 SMAD1 RB1 YBX1 BMI1 ZNF48 ZNF143 ATF7 BCLAF1 IKZF2 CD19 TUFM SULT1A2 CDC37P1 KCTD13 EIF3C SMG1P2 GC16P028929 RABEP2
GH16I028874 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 12.3 -54.0 -54003 6.4 HDGF FEZF1 GLI4 ZNF2 GLIS2 ZNF213 E2F8 ZNF143 KLF7 FOS ATP2A1 TUFM CD19 RABEP2 NFATC2IP CDC37P1 ATP2A1-AS1 GC16M028787 ENSG00000261766
GH16I028861 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 -67.3 -67296 5.6 CLOCK ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC PPARGC1A SH2B1 ENSG00000261766 TUFM ATXN2L NPIPB12 NFATC2IP ENSG00000260853 SULT1A2 NPIPB10P ENSG00000198106
GH16I028973 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.8 +42.8 42806 2.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 ZNF416 ZNF143 SPNS1 ENSG00000261067 ENSG00000261766 ATXN2L NPIPB12 NFATC2IP ENSG00000260853 CDIPT SULT1A2 ENSG00000247735
GH16I028910 Enhancer 1 ENCODE dbSUPER 12.6 -21.2 -21226 1.3 HDAC1 BATF ZNF335 ZSCAN5C ZNF391 FOS JUNB ZEB2 TSHZ1 NFIC TUFM CD19 RABEP2 ATP2A1 NFATC2IP GC16P028925 GC16M028787
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CD19 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD19 gene promoter:

Genomic Locations for CD19 Gene

Genomic Locations for CD19 Gene
chr16:28,931,916-28,939,347
(GRCh38/hg38)
Size:
7,432 bases
Orientation:
Plus strand
chr16:28,943,260-28,950,668
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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:
    • Forms a complex with CD21, CD81 and CD225 in the membrane of mature B-cells. Interacts with VAV. Interacts with GRB2 and SOS when phosphorylated on Tyr-348 and/or Tyr-378. Interacts with PLCG2 when phosphorylated on Tyr-409. Interacts with LYN.
    SequenceCaution:
    • Sequence=AAA35533.1; Type=Frameshift; Positions=396; Evidence={ECO:0000305};

    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 serine and threonine upon DNA damage, probably by ATM or ATR. Phosphorylated on tyrosine following B-cell activation. Phosphorylated on tyrosine residues by LYN.
  • Glycosylation at Asn86, Asn125, Asn138, Asn181, and Asn265
  • Modification sites at PhosphoSitePlus

Other Protein References for CD19 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies 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:
ProtoNet:

Suggested Antigen Peptide Sequences for CD19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for CD19 Gene

Function for CD19 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CD19 Gene

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
UniProtKB/Swiss-Prot Function:
Assembles with the antigen receptor of B-lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation.

Phenotypes From GWAS Catalog for CD19 Gene

Gene Ontology (GO) - Molecular Function for CD19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005057 signal transducer activity, downstream of receptor TAS 1373518
GO:0005515 protein binding IPI 19214191
GO:0046934 phosphatidylinositol-4,5-bisphosphate 3-kinase activity TAS --
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:

Animal Model Products

Clone Products

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

Membrane; 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
nucleus 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
mitochondrion 1
lysosome 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 TAS 2472450
GO:0009897 external side of plasma membrane IEA,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

SIGNOR curated interactions for CD19 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CD19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006968 cellular defense response TAS 1373518
GO:0007166 cell surface receptor signaling pathway TAS 1714482
GO:0030449 regulation of complement activation TAS --
GO:0046854 phosphatidylinositol phosphorylation IEA --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with CD19: view

Drugs & Compounds for CD19 Gene

Products:

  1. Drug

(37) Drugs for CD19 Gene - From: DrugBank, ClinicalTrials, DGIdb, FDA Approved Drugs, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fludarabine Approved Pharma DNA synthsis inhibitor 1231,1231
Blinatumomab Approved, Investigational Pharma Target, activator 42
Tisagenlecleucel Approved, Investigational Pharma Target, antibody 0
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3113
Idelalisib Approved Pharma 51

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CD19 Gene

(5) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(58) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CD19 Gene

CD19 molecule:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
CD19

Expression for CD19 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for CD19 Gene
mRNA expression by GTEx for CD19 GenemRNA expression by BioGPS 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, PaxDb, and MOPED for CD19 Gene



Protein tissue co-expression partners for CD19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD19 Gene:

CD19

SOURCE GeneReport for Unigene cluster for CD19 Gene:

Hs.652262

Evidence on tissue expression from TISSUES for CD19 Gene

  • Blood(4.8)
  • Spleen(4.8)
  • Bone marrow(3.5)
  • Lymph node(3.5)
  • Intestine(2.7)
  • Lung(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

No data available for mRNA Expression by UniProt/SwissProt for CD19 Gene

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 33 34
  • 98.7 (n)
dog
(Canis familiaris)
 Mammalia CD19 33 34
  • 81.45 (n)
cow
(Bos Taurus)
 Mammalia CD19 33 34
  • 78.37 (n)
mouse
(Mus musculus)
 Mammalia Cd19 33 16 34
  • 76.29 (n)
rat
(Rattus norvegicus)
 Mammalia Cd19 33
  • 75.46 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 41 (a)
 OneToMany
-- 34
  • 34 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia CD19 34
  • 23 (a)
 OneToOne
Species where no ortholog for CD19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for CD19 Gene

No data available for Paralogs for CD19 Gene

Variants for CD19 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CD19 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1037602719 uncertain-significance, Common Variable Immune Deficiency, Recessive 28,932,017(+) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10633752 uncertain-significance, Common Variable Immune Deficiency, Recessive 28,939,254(+) GTGTGTGTGTGTGTGTGTGTGTGT/GTGTGTGTGTGTGTGTGTGT/GTGTGTGTGTGTGTGTGTGTGT/GTGTGTGTGTGTGTGTGTGTGTGTGT/GTGTGTGTGTGTGTGTGTGTGTGTGTGT/GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT/GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT/GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 3_prime_UTR_variant, genic_downstream_transcript_variant
rs117769220 likely-benign, Common Variable Immune Deficiency, Recessive 28,932,961(+) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs142342927 likely-benign, Common Variable Immune Deficiency, Recessive 28,932,936(+) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs142818579 uncertain-significance, Common Variable Immune Deficiency, Recessive 28,937,346(+) C/T coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CD19 Gene

MalaCards: The human disease database

(44) MalaCards diseases for CD19 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for CD19

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CD19: view

No data available for Genatlas for CD19 Gene

Publications for CD19 Gene

  1. 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 44 58
  2. 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 58
  3. 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 44 58
  4. 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 44 58
  5. Association of CD22 gene polymorphism with susceptibility to limited cutaneous systemic sclerosis. (PMID: 17493148) Hitomi Y … Sato S (Tissue antigens 2007) 3 44 58

Products for CD19 Gene

Sources for CD19 Gene