Gene Gene information from NCBI Gene database.
Entrez ID 930
Gene name CD19 molecule
Gene symbol CD19
Synonyms (NCBI Gene)
B4CVID3
Chromosome 16
Chromosome location 16p11.2
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 differen
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs148808609 C>A Conflicting-interpretations-of-pathogenicity, likely-benign Intron variant, genic downstream transcript variant
rs372929312 G>C Likely-pathogenic, uncertain-significance Genic downstream transcript variant, downstream transcript variant, splice donor variant
rs758555433 G>T Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs774006181 A>- Uncertain-significance, likely-pathogenic Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886037920 G>C Pathogenic Missense variant, non coding transcript variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
417
miRTarBase ID miRNA Experiments Reference
MIRT539632 hsa-miR-8485 HITS-CLIP 23313552
MIRT539631 hsa-miR-329-3p HITS-CLIP 23313552
MIRT539630 hsa-miR-362-3p HITS-CLIP 23313552
MIRT539629 hsa-miR-603 HITS-CLIP 23313552
MIRT609359 hsa-miR-4643 HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
APEX1 Activation 10666449
PAX5 Activation 15163413
PAX5 Unknown 10666449;12907641;20208555
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0001923 Process B-1 B cell differentiation IEA
GO:0002250 Process Adaptive immune response IEA
GO:0002322 Process B cell proliferation involved in immune response IDA 1373518
GO:0002322 Process B cell proliferation involved in immune response IEA
GO:0002322 Process B cell proliferation involved in immune response IMP 16672701
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
107265 1633 ENSG00000177455
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15391
Protein name B-lymphocyte antigen CD19 (B-lymphocyte surface antigen B4) (Differentiation antigen CD19) (T-cell surface antigen Leu-12) (CD antigen CD19)
Protein function Functions as a coreceptor for the B-cell antigen receptor complex (BCR) on B-lymphocytes (PubMed:29523808). Decreases the threshold for activation of downstream signaling pathways and for triggering B-cell responses to antigens (PubMed:1373518,
PDB 6AL5 , 7JIC , 7URV , 7URX
Family and domains
Tissue specificity 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:16672701, PubMed:2463100). {ECO:0000269|PubMed:16672701, ECO:0000269|PubMed:2463100}.
Sequence
MPPPRLLFFLLFLTPMEVRPEEPLVVKVEEGDNAVLQCLKGTSDGPTQQLTWSRESPLKP
FLKLSLGLPGLGIHMRPLAIWLFIFNVSQQMGGFYLCQPGPPSEKAWQPGWTVNVEGSGE
LFRWNVSDLGGLGCGLKNRSSEGPSSPSGKLMSPKLYVWAKDRPEIWEGEPPCLPPRDSL
NQSLSQDLTMAPGSTLWLSCGVPPDSVSRGPLSWTHVHPKGPKSLLSLELKDDRPARDMW
VMETGLLLPRATAQDAGKYYCHRGNLTMSFHLEITARPVLWHWLLRTGGWKVSAVTLAYL
IFCLCSLVGILHLQRALVLRRKRKRMTDPTRRFFKVTPPPGSGPQNQYGNVLSLPTPTSG
LGRAQRWAAGLGGTAPSYGNPSSDVQADGALGSRSPPGVGPEEEEGEGYEEPDSEEDSEF
YENDSNLGQDQLSQDGSGYENPEDEPLGPEDEDSFSNAESYENEDEELTQPVARTMDFLS
PHGSAWDPSREATSLGSQSYEDMRGILYAAPQLRSIRGQPGPNHEEDADSYENMDNPDGP
DPAWGGGGRMGTWSTR
Sequence length 556
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  PI3K-Akt signaling pathway
Hematopoietic cell lineage
B cell receptor signaling pathway
Epstein-Barr virus infection
Primary immunodeficiency
  PIP3 activates AKT signaling
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Constitutive Signaling by Aberrant PI3K in Cancer
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Regulation of Complement cascade
Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency, common variable, 3 Pathogenic; Likely pathogenic rs1567506566, rs886037920, rs886037921, rs2152230798, rs1393707607, rs1596718225 RCV000240815
RCV000240828
RCV000240806
RCV000019670
RCV000019671
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inherited Immunodeficiency Diseases Likely pathogenic rs758555433, rs1596712783 RCV001027553
RCV001027554
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANTIBODY DEFICIENCY DUE TO DEFECT IN CD19 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CD19-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Common Variable Immune Deficiency, Recessive Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY CTD, Disgenet, GenCC
CTD, Disgenet, GenCC
CTD, Disgenet, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency CTD_human_DG 16672701
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 16729790, 16763458
★☆☆☆☆
Found in Text Mining only
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 10552966
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 1375695, 18803279, 21323891, 23193950, 30154788, 9479874
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10654022, 11264179, 12592332, 12801841, 1280479, 14961035, 1696310, 16979235, 17107913, 17656004, 17717597, 17855649, 19143872, 19238016, 21323891
View all (86 more)
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 17662713, 20208555, 31247675, 9269784
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia, minimal differentiation Myeloid Leukemia BEFREE 9002966
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 9052378
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30627533
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 1709379, 18333845
★☆☆☆☆
Found in Text Mining only