Human Gene CD19 (ENST00000538922.8) Description and Page Index
  Description: Homo sapiens CD19 molecule (CD19), transcript variant 2, mRNA. (from RefSeq NM_001770)
Gencode Transcript: ENST00000538922.8
Gencode Gene: ENSG00000177455.15
Transcript (Including UTRs)
   Position: hg38 chr16:28,931,971-28,939,342 Size: 7,372 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg38 chr16:28,932,001-28,938,963 Size: 6,963 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsProtein StructureOther NamesMethods
Data last updated at UCSC: 2021-06-20 19:51:40

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:28,931,971-28,939,342)mRNA (may differ from genome)Protein (556 aa)
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HGNCMGIPubMedUniProtKB

-  Comments and Description Text from UniProtKB
  ID: CD19_HUMAN
DESCRIPTION: RecName: Full=B-lymphocyte antigen CD19; AltName: Full=B-lymphocyte surface antigen B4; AltName: Full=Differentiation antigen CD19; AltName: Full=T-cell surface antigen Leu-12; AltName: CD_antigen=CD19; Flags: Precursor;
FUNCTION: Assembles with the antigen receptor of B-lymphocytes in order to decrease the threshold for antigen receptor-dependent stimulation.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
PTM: 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.
DISEASE: Defects in CD19 are the cause of immunodeficiency common variable type 3 (CVID3) [MIM:613493]; also called antibody deficiency due to CD19 defect. CVID3 is 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.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
SEQUENCE CAUTION: Sequence=AAA35533.1; Type=Frameshift; Positions=396;
WEB RESOURCE: Name=CD19base; Note=CD19 mutation db; URL="http://bioinf.uta.fi/CD19base/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CD19";

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub

ModBase Predicted Comparative 3D Structure on P15391
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-  Other Names for This Gene
  UCSC ID: ENST00000538922.8
Representative RNA: NM_001770
Protein: P15391 (aka CD19_HUMAN)

+  Methods, Credits, and Use Restrictions
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