HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CD53
CD53 molecule
Chromosome 1 · 1p13.3
NCBI Gene: 963Ensembl: ENSG00000143119.16HGNC: HGNC:1686UniProt: B4DQB5
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
immunological synapseprotein bindingprotein-membrane adaptor activityextracellular exosomecorneal ulcernon-alcoholic steatohepatitisTownes-Brocks syndromeChronic mucocutaneous candidosis
✦AI Summary

CD53 is a tetraspanin protein exclusively expressed in immune cells that functions as a structural component of tetraspanin-enriched microdomains (TEMs), serving as a platform for receptor clustering and cell signaling 1. It plays critical roles in B-cell and T-cell development and activation by promoting BCR signaling through PKC recruitment to the plasma membrane and stabilizing L-selectin expression for lymph node homing 2. CD53 participates in diverse immune processes including cell adhesion, migration, and protein trafficking 1. Beyond lymphocytes, CD53 is expressed on dendritic cells, macrophages, and natural killer cells, supporting their inflammatory and immune functions 1. In disease contexts, CD53 emerges as a key hub gene in lupus nephritis with high diagnostic accuracy (AUC=0.995), correlating with immune cell infiltration and disease severity 3. Single-cell analyses identify CD53+ megakaryocytes as specialized immune-responsive cells capable of bacterial clearance and antigen presentation 4. CD53 is also associated with macrophage polarization in liver cancer and serves as a marker of immune activation during HBV disease progression 56. Patients lacking functional CD53 experience recurrent infections, indicating an essential, non-redundant role in immune homeostasis 1.

Sources cited
1
CD53 is a tetraspanin exclusively expressed in immune cells that organizes cell surface through TEMs and is essential for immune function; deficiency causes recurrent infections
PMID: 32440787
2
CD53 interacts with CD20 and other surface proteins on B cells and is involved in BCR signaling
PMID: 32482755
3
CD53 is identified as a hub gene in lupus nephritis with high diagnostic accuracy (AUC=0.995), involved in inflammation and immune activation with expression correlating with disease features
PMID: 38130724
4
CD53+ megakaryocytes represent a specialized immune-responsive subpopulation capable of pathogen recognition, bacterial clearance, and antigen presentation
PMID: 34115843
5
CD53 is a key gene associated with macrophage polarization in liver cancer and correlates with macrophage infiltration levels
PMID: 37889536
6
CD8 T cell-CD53 population increases during HBV infection progression, indicating immune activation
PMID: 38116005
Disease Associationsⓘ20
corneal ulcerOpen Targets
0.16Weak
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
Townes-Brocks syndromeOpen Targets
0.06Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.05Suggestive
immune deficiency, familial variableOpen Targets
0.05Suggestive
immunodeficiency 86Open Targets
0.04Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
MHC class II deficiency 5Open Targets
0.04Suggestive
hyper-IgM syndrome type 2Open Targets
0.04Suggestive
IGA glomerulonephritisOpen Targets
0.04Suggestive
hyper-IgM syndrome type 5Open Targets
0.04Suggestive
immunodeficiency, common variable, 14Open Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.03Suggestive
vascular diseaseOpen Targets
0.03Suggestive
lung carcinomaOpen Targets
0.03Suggestive
tuberculosisOpen Targets
0.03Suggestive
diabetic nephropathyOpen Targets
0.02Suggestive
overnutritionOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ITGB2Protein interaction97%TYROBPProtein interaction96%UPK1AProtein interaction95%CD2Protein interaction94%PTPRCProtein interaction94%CD48Protein interaction93%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
86%
Liver
12%
Brain
9%
Heart
8%
Ovary
4%
Gene Interaction Network
Click a node to explore
CD53ITGB2TYROBPUPK1ACD2PTPRCCD48
PROTEIN STRUCTURE
Preparing viewer…
PDB6WVG · 2.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.52 [0.31–0.91]
RankingsWhere CD53 stands among ~20K protein-coding genes
  • #8,291of 20,598
    Most Researched54
  • #8,325of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedCD53
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PARP14 and PARP9/DTX3L regulate interferon-induced ADP-ribosylation.
PMID: 38834853
EMBO J · 2024
1.00
2
Identification of driver genes in lupus nephritis based on comprehensive bioinformatics and machine learning.
PMID: 38130724
Front Immunol · 2023
0.90
3
The regulation and function of CD20: an "enigma" of B-cell biology and targeted therapy.
PMID: 32482755
Haematologica · 2020
0.80
4
Neutrophilic granulocyte-derived B-cell activating factor supports B cells in skin lesions in hidradenitis suppurativa.
PMID: 36481267
J Allergy Clin Immunol · 2023
0.70
5
Single-cell analysis of ploidy and the transcriptome reveals functional and spatial divergency in murine megakaryopoiesis.
PMID: 34115843
Blood · 2021
0.60