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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PTPRC
protein tyrosine phosphatase receptor type C
Chromosome 1 Β· 1q31.3-q32.1
NCBI Gene: 5788Ensembl: ENSG00000081237.22HGNC: HGNC:9666UniProt: M9MML4
351PubMed Papers
22Diseases
1Drugs
39Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
transmembrane receptor protein tyrosine phosphatase activityprotein bindingextracellular exosomehematopoietic progenitor cell differentiationimmunodeficiency 104immunodeficiency 105T-B+ severe combined immunodeficiency due to JAK3 deficiencyT-B+ severe combined immunodeficiency due to CD45 deficiency
✦AI Summary

PTPRC (CD45) is a transmembrane protein tyrosine phosphatase expressed on virtually all hematopoietic cells except mature erythrocytes, serving as an essential regulator of T and B cell antigen receptor signaling 1. As a receptor tyrosine phosphatase, CD45 functions upstream of T cell receptor (TCR) signaling by excluding itself from the immunological synapse, thereby maintaining the activation threshold for immune responses 23. CD45 can be modulated by extracellular ligandsβ€”including adenoviral proteins like E3/49Kβ€”that dimerize CD45 and suppress its phosphatase activity, consequently inhibiting T cell activation 3. Pathologically, CD45 expression on circulating tumor cells enables immune evasion through homophilic CD45-CD45 interactions with T cells, reducing TCR signaling and promoting metastasis 4. Clinically, CD45-based imaging effectively detects inflammation across multiple disease contexts, outperforming standard methods 5. Genetic variants in PTPRC (rs10919563 A allele) are associated with poor response to TNF-blocking therapy in rheumatoid arthritis, suggesting utility for personalized treatment prediction 6. Disruption of PTPRC-mediated signaling balance can result in immunodeficiency, autoimmunity, or malignancy 1.

Sources cited
1
CD45 is expressed on hematopoietic cells and is essential for T and B cell receptor signaling; disruption causes immunodeficiency, autoimmunity, or malignancy
PMID: 34039664
2
CD45 is excluded from the T cell synapse, playing a role in TCR activation and target cell killing
PMID: 28262555
3
Extracellular ligands can dimerize CD45 and suppress its phosphatase activity, modulating T cell signaling
PMID: 39454026
4
CD45 on tumor cells forms homophilic interactions with T cell CD45, reducing TCR signaling and promoting immune evasion
PMID: 38575583
5
CD45-PET imaging effectively detects inflammation and correlates with disease severity
PMID: 39843738
6
PTPRC rs10919563 A allele is associated with poor response to TNF-blocking therapy in rheumatoid arthritis
PMID: 27074847
Disease Associationsβ“˜22
immunodeficiency 104Open Targets
0.72Strong
immunodeficiency 105Open Targets
0.67Moderate
T-B+ severe combined immunodeficiency due to JAK3 deficiencyOpen Targets
0.57Moderate
T-B+ severe combined immunodeficiency due to CD45 deficiencyOpen Targets
0.55Moderate
asthmaOpen Targets
0.53Moderate
Omenn syndromeOpen Targets
0.47Moderate
T-B- severe combined immunodeficiencyOpen Targets
0.46Moderate
T-B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
T+ B+ severe combined immunodeficiencyOpen Targets
0.46Moderate
respiratory system diseaseOpen Targets
0.44Moderate
systemic lupus erythematosusOpen Targets
0.42Moderate
Crohn's diseaseOpen Targets
0.41Moderate
autoimmune diseaseOpen Targets
0.40Moderate
adult onset asthmaOpen Targets
0.38Weak
lung carcinomaOpen Targets
0.38Weak
esophageal adenocarcinomaOpen Targets
0.38Weak
lymphoid neoplasmOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
cutaneous melanomaOpen Targets
0.37Weak
Immunodeficiency 105, severe combinedUniProt
Multiple sclerosisUniProt
Pathogenic Variants39
NM_002838.5(PTPRC):c.2668C>T (p.Arg890Ter)Pathogenic
Immunodeficiency 104|Immunodeficiency 105
β˜…β˜…β˜†β˜†2024β†’ Residue 890
NM_002838.5(PTPRC):c.583+1G>TLikely pathogenic
Immunodeficiency 104|Immunodeficiency 105
β˜…β˜…β˜†β˜†2024
NM_002838.5(PTPRC):c.583+1G>ALikely pathogenic
not provided|Immunodeficiency 104
β˜…β˜…β˜†β˜†2023
NM_002838.5(PTPRC):c.440-1G>CLikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2025
NM_002838.5(PTPRC):c.685+1G>ALikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2025
NM_002838.5(PTPRC):c.594_597dup (p.Ala200Ter)Pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2024β†’ Residue 200
NM_002838.5(PTPRC):c.2807del (p.Asp936fs)Likely pathogenic
Immunodeficiency 105
β˜…β˜†β˜†β˜†2024β†’ Residue 936
NM_002838.5(PTPRC):c.2561+1G>TLikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2024
NM_002838.5(PTPRC):c.3041del (p.Pro1014fs)Pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2024β†’ Residue 1014
NM_002838.5(PTPRC):c.2403+1G>ALikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2024
NM_002838.5(PTPRC):c.3390_3393del (p.Pro1131fs)Pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2024β†’ Residue 1131
NM_002838.5(PTPRC):c.3207+2T>ALikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023
NM_002838.5(PTPRC):c.3236dup (p.Gln1081fs)Pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023β†’ Residue 1081
NM_002838.5(PTPRC):c.3330+2T>CLikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023
NM_002838.5(PTPRC):c.73+1G>ALikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023
NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter)Pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023β†’ Residue 980
NM_002838.5(PTPRC):c.659-2A>GLikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023
NM_002838.5(PTPRC):c.2017C>T (p.Arg673Ter)Pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023β†’ Residue 673
NM_002838.5(PTPRC):c.2403+1G>TLikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023
NM_002838.5(PTPRC):c.2561+2T>CLikely pathogenic
Immunodeficiency 104
β˜…β˜†β˜†β˜†2023
View on ClinVar β†—
Drug Targets1
BC8 131IPhase II
Leukocyte common antigen binding agent
childhood leukemia
Related Genes
CD79BProtein interaction100%CXCR4Protein interaction100%BTLAProtein interaction100%IFNGProtein interaction99%PTPRCAPProtein interaction99%ALCAMProtein interaction98%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
42%
Liver
6%
Heart
5%
Brain
4%
Ovary
1%
Gene Interaction Network
Click a node to explore
PTPRCCD79BCXCR4BTLAIFNGPTPRCAPALCAM
PROTEIN STRUCTURE
Preparing viewer…
PDB5FN7 Β· 2.30 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.20–0.34]
RankingsWhere PTPRC stands among ~20K protein-coding genes
  • #893of 20,598
    Most Researched351 Β· top 5%
  • #1,557of 5,498
    Most Pathogenic Variants39
  • #1,487of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedPTPRC
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Dynamics of Cell Generation and Turnover in the Human Heart.
PMID: 26073943
Cell Β· 2015
1.00
2
Circulating tumor cells shielded with extracellular vesicle-derived CD45 evade T cell attack to enable metastasis.
PMID: 38575583
Signal Transduct Target Ther Β· 2024
0.90
3
CD45-PET is a robust, non-invasive tool for imaging inflammation.
PMID: 39843738
Nature Β· 2025
0.80
4
Integrated multiomic analysis reveals comprehensive tumour heterogeneity and novel immunophenotypic classification in hepatocellular carcinomas.
PMID: 31227589
Gut Β· 2019
0.70
5
PTPRC promoted CD8+ T cell mediated tumor immunity and drug sensitivity in breast cancer: based on pan-cancer analysis and artificial intelligence modeling of immunogenic cell death-based drug sensitivity stratification.
PMID: 37388747
Front Immunol Β· 2023
0.64