Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
930
Gene name Gene Name - the full gene name approved by the HGNC.
CD19 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD19
Synonyms (NCBI Gene) Gene synonyms aliases
B4, CVID3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CVID3
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez 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 differen
SNPs SNP information provided by dbSNP.
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.
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 factor Regulation Reference
APEX1 Activation 10666449
PAX5 Activation 15163413
PAX5 Unknown 10666449;12907641;20208555
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001923 Process B-1 B cell differentiation IEA
GO:0002322 Process B cell proliferation involved in immune response IDA 1373518
GO:0002322 Process B cell proliferation involved in immune response IMP 16672701
GO:0005515 Function Protein binding IPI 19214191, 24963139
GO:0005886 Component Plasma membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
107265 1633 ENSG00000177455
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agammaglobulinemia Agammaglobulinemia rs2134166251, rs128620183, rs128620185, rs128621193, rs128621201, rs128621204, rs121912424, rs267606711, rs376256147, rs281865422, rs1600631593, rs1555843601, rs267606871, rs879255271, rs2142904392
View all (17 more)
16672701
Anemia Anemia, Hemolytic rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Bronchiectasis Bronchiectasis rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016
View all (214 more)
Common variable immunodeficiency Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, Antibody Deficiency due to Defect in CD19 rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113
View all (35 more)
16672701, 21159371
Unknown
Disease term Disease name Evidence References Source
Otitis media Chronic otitis media, Recurrent otitis media ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Abnormal Karyotype Associate 19882758
Acquired Immunodeficiency Syndrome Associate 9576185
Acute erythroleukemia Associate 18061959
Adenocarcinoma Associate 32509861
Agammaglobulinemia Associate 16672701, 21693761, 26325596, 37246174
alpha Thalassemia Associate 14508795
Androgen Insensitivity Syndrome Inhibit 31598989
Anemia Aplastic Inhibit 20647647
Aneuploidy Associate 32881995
Angina Unstable Associate 7594025