PTPRC

Summary

PTPRC (protein tyrosine phosphatase receptor type C, HGNC:9666) is a protein-coding gene on chromosome 1q31.3-q32.1, encoding Receptor-type tyrosine-protein phosphatase C (P08575). Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor.

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitosis, and oncogenic transformation. This PTP contains an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus is classified as a receptor type PTP. This PTP has been shown to be an essential regulator of T- and B-cell antigen receptor signaling. It functions through either direct interaction with components of the antigen receptor complexes, or by activating various Src family kinases required for the antigen receptor signaling. This PTP also suppresses JAK kinases, and thus functions as a regulator of cytokine receptor signaling. Alternatively spliced transcripts variants of this gene, which encode distinct isoforms, have been reported.

Source: NCBI Gene 5788 — RefSeq curated summary.

At a glance

• Gene–disease (curated): immunodeficiency 104 (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 48
• Clinical variants (ClinVar): 1,302 total — 19 pathogenic, 20 likely-pathogenic
• Phenotypes (HPO): 19
• Druggable target: yes
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 4 cancer types
• MANE Select transcript: NM_002838

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9666
Approved symbol	PTPRC
Name	protein tyrosine phosphatase receptor type C
Location	1q31.3-q32.1
Locus type	gene with protein product
Status	Approved
Aliases	LCA, T200, GP180, LY5, B220, CD45R
Ensembl gene	ENSG00000081237
Ensembl biotype	protein_coding
OMIM	151460
Entrez	5788

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 18 protein_coding, 7 retained_intron, 2 protein_coding_CDS_not_defined, 1 non_stop_decay, 1 nonsense_mediated_decay

ENST00000348564, ENST00000367364, ENST00000367367, ENST00000367379, ENST00000391970, ENST00000413409, ENST00000418674, ENST00000427110, ENST00000442510, ENST00000462363, ENST00000484135, ENST00000491302, ENST00000529828, ENST00000530727, ENST00000643513, ENST00000645247, ENST00000646230, ENST00000697630, ENST00000697631, ENST00000697632, ENST00000697633, ENST00000697634, ENST00000697635, ENST00000908298, ENST00000908299, ENST00000970623, ENST00000970624, ENST00000970625, ENST00000970626

RefSeq mRNA: 3 — MANE Select: NM_002838 NM_001267798, NM_002838, NM_080921

CCDS: CCDS1397, CCDS1398, CCDS44291

Canonical transcript exons

ENST00000442510 — 33 exons

Exon	Start	End
ENSE00002333846	198754269	198754404
ENSE00002347823	198748109	198748199
ENSE00002361018	198749416	198749549
ENSE00002364303	198750492	198750626
ENSE00002370838	198744054	198744203
ENSE00002400118	198752594	198752772
ENSE00002402933	198742232	198742367
ENSE00002415158	198752249	198752371
ENSE00002419276	198741869	198742026
ENSE00002981112	198732300	198732390
ENSE00003002248	198734328	198734425
ENSE00003005163	198708133	198708261
ENSE00003024062	198696712	198696909
ENSE00003029831	198734196	198734232
ENSE00003033137	198712953	198713072
ENSE00003066310	198703298	198703372
ENSE00003083554	198729137	198729171
ENSE00003094512	198731617	198731726
ENSE00003098735	198728340	198728448
ENSE00003101654	198718094	198718302
ENSE00003105184	198709687	198709824
ENSE00003144868	198704472	198704498
ENSE00003204115	198706734	198706952
ENSE00003220965	198722416	198722476
ENSE00003551252	198639226	198639341
ENSE00003551747	198692347	198692373
ENSE00003622734	198699564	198699704
ENSE00003657407	198716682	198716840
ENSE00003671199	198702387	198702530
ENSE00003788019	198732480	198732556
ENSE00003791087	198735127	198735252
ENSE00003817282	198639040	198639137
ENSE00003821966	198755906	198757476

Expression profiles

Bgee: expression breadth ubiquitous, 277 present calls, max score 99.47.

FANTOM5 (CAGE): breadth broad, TPM avg 119.0198 / max 11149.0968, expressed in 611 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
7590	117.8156	611
7591	0.6628	187
7618	0.1298	63
7614	0.0978	52
7588	0.0875	43
7615	0.0875	37
7589	0.0825	38
7587	0.0564	36

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	99.47	gold quality
mononuclear cell	CL:0000842	99.47	gold quality
leukocyte	CL:0000738	99.46	gold quality
vermiform appendix	UBERON:0001154	99.22	gold quality
blood	UBERON:0000178	99.19	gold quality
epithelium of nasopharynx	UBERON:0001951	99.14	gold quality
granulocyte	CL:0000094	99.03	gold quality
lymph node	UBERON:0000029	98.86	gold quality
bone marrow	UBERON:0002371	98.83	gold quality
bone marrow cell	CL:0002092	98.79	gold quality
thymus	UBERON:0002370	98.30	gold quality
caecum	UBERON:0001153	98.19	gold quality
spleen	UBERON:0002106	98.03	gold quality
colonic epithelium	UBERON:0000397	97.95	gold quality
trabecular bone tissue	UBERON:0002483	97.32	gold quality
pylorus	UBERON:0001166	96.64	gold quality
periodontal ligament	UBERON:0008266	96.24	gold quality
gall bladder	UBERON:0002110	96.05	gold quality
visceral pleura	UBERON:0002401	95.90	gold quality
pericardium	UBERON:0002407	95.52	gold quality
lower lobe of lung	UBERON:0008949	95.39	gold quality
vena cava	UBERON:0004087	95.35	gold quality
tonsil	UBERON:0002372	95.17	gold quality
pleura	UBERON:0000977	95.15	gold quality
right lung	UBERON:0002167	95.11	gold quality
parietal pleura	UBERON:0002400	94.60	gold quality
upper lobe of left lung	UBERON:0008952	94.23	gold quality
trigeminal ganglion	UBERON:0001675	94.22	gold quality
upper lobe of lung	UBERON:0008948	94.16	gold quality
cardia of stomach	UBERON:0001162	94.01	gold quality

Single-cell (SCXA)

Detected in 39 experiment(s), a significant marker in 33.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	2177.37
E-ANND-2	yes	1979.39
E-HCAD-30	yes	1605.24
E-GEOD-180759	yes	1466.19
E-GEOD-75688	yes	1314.06
E-GEOD-130473	yes	1226.75
E-MTAB-10855	yes	1215.27
E-MTAB-10596	yes	1167.36
E-GEOD-135922	yes	1106.08
E-MTAB-8142	yes	1085.59
E-HCAD-25	yes	971.18
E-MTAB-10287	yes	849.11
E-MTAB-11268	yes	672.92
E-HCAD-1	yes	96.99
E-MTAB-6701	yes	94.86

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREM, ESR2, MSC, NFKB, POU2F1, SFPQ, SPI1, ZHX2

miRNA regulators (miRDB)

94 targeting PTPRC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-5680	99.91	69.83	3421

Literature-anchored findings (GeneRIF, showing 40)

• role of CD45RO in the persistent HTLV-1 infection in vivo (PMID:11778694)
• CD45 variant (C77G, exon 4) does not confer susceptibility to either IDDM or Graves’ disease (PMID:11841494)
• we examined the frequency of the C77G allele in African and Asian populations from countries with high or low prevalence of HIV infection; Here we report that the variant CD45 C77G allele is absent in African populations (PMID:11862398)
• Requirements of src family kinase activity associated with CD45 for myeloma cell proliferation by interleukin-6 (PMID:11877294)
• SKAP55 coupled with CD45 positively regulates T-cell receptor-mediated gene transcription. (PMID:11909961)
• analysis of CD45 isoform expression during T-cell development and selection in the human thymus (PMID:11975983)
• CD45 controls interleukin-4-mediated IgE class switch recombination in human B cells (PMID:11994288)
• Receptor tyrosine phosphatase, CD45 binds galectin-1 but does not mediate its apoptotic signal in Jurkat cells (PMID:12008046)
• Role of high and low molecular weight isoforms of CD45 in the function of naive and memory T lymphocytes. Review. (PMID:12022705)
• a mutation in PTPRC interferes with splicing and alters the structure of the CD45 molecule (PMID:12073144)
• Biological functions of membrane expressed CD45 isoforms on PMNs were studied. Cross-linking of CD45 isoforms by specific MAbs stimulated different PMN activities by differential suppression on protein tyrosine phosphorylation and p56lck. (PMID:12100025)
• Role of the C–>G mutation in position 77 of exon 4 of the protein tyrosine phosphatase receptor-type C (PTPRC) gene, coding for the CD45 molecule, for the development of multiple sclerosis (MS) in Italy. (PMID:12147336)
• The spectrin-ankyrin skeleton controls CD45 surface display and interleukin-2 production. (PMID:12354383)
• interactions between RPTP-domain1s and RPTP-domain 2s are a common but specific mechanism that is likely to be regulated- domain2s and the wedge structures are crucial determinants of binding specificity, thus regulating cross-talk between RPTPs (PMID:12376545)
• reaches the cell surface via Golgi-dependent and -independent pathways (PMID:12386161)
• CD45 may play a pivotal role in erythropoiesis. CD45 tyrosine phosphatase inhibits erythroid differentiation of umbilical cord blood CD34+ cells associated with selective inactivation of Lyn. (PMID:12393728)
• difference in sensitivity to stress stimuli and IL6-induced cell growth between CD45+ and CD45- multiple myeloma cells (PMID:12430875)
• CD45 is regulated by ST6Gal I sialyltransferase in a process that leads to T cell death (PMID:12499376)
• CD45 differentially regulates CXCR4-mediated chemotactic activity and MAPK activation by modulating the activities of focal adhesion components (PMID:12519755)
• CD45 mediates its T cell inhibitory activity, causing PP14 to elevate TCR activation thresholds and thereby down-regulate T cell activation (PMID:12556471)
• CD45 via its Janus kinase phosphatase activity is able to suppress IL-4-dependent activation-induced expression of cytidine deaminase in primary B cells. (PMID:12574355)
• data identify CD45 as a gene associated with autoimmune hepatitis, and further substantiates the hypothesis that CD45 represents a modifier gene of human autoimmunity (PMID:12595907)
• Association of a PTPRC exon A mutation in systemic sclerosis. (PMID:12618866)
• CD45 is excluded from the inhibitory, i.e., noncytolytic, but not the activating, NK cell immune synapse, where its redistribution away from intercellular contact may favor inhibitory effector functions. (PMID:12626536)
• The loss of CD45 activity in lymphocytes from the elderly may underlie poor T cell function associated with ageing. (PMID:12633939)
• a polymorphism in exon 6 (A138G) of the gene encoding CD45 that interferes with alternative splicing (PMID:12716971)
• prevalence of a functional mutation in the CD45 gene and distribution of memory and naive T cells in myasthenia gravis (PMID:12820694)
• None of four newly identified nucleotide substitutions in the CD45 gene, namely C77T (Pro59Pro) in exon 4, G69C (Asp121His) in exon 5, T127A (Ile187Asn) and A138G (Thr191Ala) in exon 6, is significantly associated with multiple sclerosis. (PMID:12864992)
• identification of CD45RO+ T-cells in the fetus (PMID:12880639)
• strong physical linkage of CD26 with CD45RA outside lipid rafts may be responsible for the attenuation of T-cell activation signaling through CD26 (PMID:14525771)
• Review. Myeloma cells expressing CD45 antigens which contain the activation of src family protein-tyrosine kinases independent of IL-6 stimulation proliferate in response to IL-6, but the proliferation of CD45- cells lacking src family PTKs is not. (PMID:14565647)
• CD45-D2 has a role in binding substrate and binds the SD10 region in Lck, which is a novel site involved in substrate recognition (PMID:14625311)
• concluded that CD4+ T lymphocytes from neonates with fetal distress show a transient decrease in the CD45RA expression without an increase in the CD45RO expression (PMID:14631169)
• Results describe a sequence element that is both the primary determinant of CD45 variable exon exclusion following T cell stimulation by PMA and is sufficient to confer activation-induced skipping of a heterologous exon. (PMID:14636588)
• IL-6-dependent multiple myeloma cells require CD45 to initiate IL-6 signaling and to maintain Lyn kinase activity, both of which are essential for cell proliferation and cell adhesion. (PMID:14979481)
• Antiretroviral therapy with the anti-CD45RO immunotoxin might reduce the HIV latent reservoir without seriously compromising CD8+ T cell memory responses. (PMID:14983037)
• CD45 splicing abnormalities might be associated with HIV infection (PMID:15057492)
• Coexpression of CD45RA and CD45RO molecules indicates activation of maternal CD4(+) and CD8(+) lymphocytes (PMID:15214936)
• masking of the alpha2-6-linked sialic acid binding site of CD22 may be mediated by secondary interactions with Sias on CD45 and sIgM (PMID:15240561)
• CD45 plays a significant role in nuclear apoptosis by the regulation of the chloride channels responsible for ionic homeostasis of the cell. (PMID:15314282)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ptprc	ENSMUSG00000026395
rattus_norvegicus	Ptprc	ENSRNOG00000000655

Paralogs (35): PTPRN (ENSG00000054356), PTPRU (ENSG00000060656), PTPN3 (ENSG00000070159), PTPN21 (ENSG00000070778), PTPN18 (ENSG00000072135), PTPN23 (ENSG00000076201), PTPRH (ENSG00000080031), PTPN4 (ENSG00000088179), PTPRS (ENSG00000105426), PTPRZ1 (ENSG00000106278), PTPN5 (ENSG00000110786), PTPN6 (ENSG00000111679), PTPRB (ENSG00000127329), PTPN12 (ENSG00000127947), PTPRE (ENSG00000132334), PTPRA (ENSG00000132670), PTPN22 (ENSG00000134242), PTPRF (ENSG00000142949), PTPN7 (ENSG00000143851), PTPRG (ENSG00000144724), PTPRJ (ENSG00000149177), PTPRO (ENSG00000151490), PTPN14 (ENSG00000152104), PTPRK (ENSG00000152894), PTPRR (ENSG00000153233), PTPRD (ENSG00000153707), PTPRN2 (ENSG00000155093), PTPN13 (ENSG00000163629), PTPN9 (ENSG00000169410), PTPRM (ENSG00000173482), PTPN2 (ENSG00000175354), PTPN11 (ENSG00000179295), PTPRT (ENSG00000196090), PTPN1 (ENSG00000196396), PTPN20 (ENSG00000204179)

Protein

Protein identifiers

Receptor-type tyrosine-protein phosphatase C — P08575 (reviewed: P08575)

Alternative names: Leukocyte common antigen, T200

All UniProt accessions (12): P08575, A0A075B788, A0A2R8Y5B1, A0A2R8YE81, A0A8V8TLH9, A0A8V8TMR5, E9PKH0, M3ZCP1, M9MMK8, M9MMK9, M9MML3, M9MML4

UniProt curated annotations — full annotation on UniProt →

Function. Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor. Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while the second one seems to affect the substrate specificity of the first one. Upon T-cell activation, recruits and dephosphorylates SKAP1 and FYN. Dephosphorylates LYN, and thereby modulates LYN activity. Interacts with CLEC10A at antigen presenting cell-T cell contact; CLEC10A on immature dendritic cells recognizes Tn antigen-carrying PTPRC/CD45 receptor on effector T cells and modulates T cell activation threshold to limit autoreactivity. (Microbial infection) Acts as a receptor for human cytomegalovirus protein UL11 and mediates binding of UL11 to T-cells, leading to reduced induction of tyrosine phosphorylation of multiple signaling proteins upon T-cell receptor stimulation and impaired T-cell proliferation.

Subunit / interactions. Binds GANAB and PRKCSH. Interacts with SKAP1. Interacts with DPP4; the interaction is enhanced in an interleukin-12-dependent manner in activated lymphocytes. Interacts with CD53; this interaction stabilizes PTPRC on the membrane and is required for optimal phosphatase activity. Interacts with CLEC10A. Does not interact with CLEC10A. Interacts with CLEC10A. Interacts with CLEC10A. Interacts with CLEC10A. (Microbial infection) Interacts with human cytomegalovirus protein UL11; the interaction is required for binding of UL11 to T-cells.

Subcellular location. Cell membrane. Membrane raft. Synapse.

Tissue specificity. Isoform 1: Detected in thymocytes. Isoform 2: Detected in thymocytes. Isoform 3: Detected in thymocytes. Isoform 4: Not detected in thymocytes. Isoform 5: Detected in thymocytes. Isoform 6: Not detected in thymocytes. Isoform 7: Detected in thymocytes. Isoform 8: Not detected in thymocytes.

Post-translational modifications. Heavily N- and O-glycosylated.

Disease relevance. Multiple sclerosis (MS) [MIM:126200] A multifactorial, inflammatory, demyelinating disease of the central nervous system. Sclerotic lesions are characterized by perivascular infiltration of monocytes and lymphocytes and appear as indurated areas in pathologic specimens (sclerosis in plaques). The pathological mechanism is regarded as an autoimmune attack of the myelin sheath, mediated by both cellular and humoral immunity. Clinical manifestations include visual loss, extra-ocular movement disorders, paresthesias, loss of sensation, weakness, dysarthria, spasticity, ataxia and bladder dysfunction. Genetic and environmental factors influence susceptibility to the disease. Disease susceptibility may be associated with variants affecting the gene represented in this entry. Immunodeficiency 105, severe combined (IMD105) [MIM:619924] An autosomal recessive disorder characterized by recurrent infections in early infancy, decreased or absent numbers of non-functional T cells, normal or increased levels of B cells, hypogammaglobulinemia, and normal or low NK cells. Clinical manifestations may include pneumonia, dermatitis, and lymphadenopathy. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The first PTPase domain interacts with SKAP1.

Similarity. Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily.

Isoforms (8)

UniProt ID	Names	Canonical?
P08575-3	1, CD45RABC	yes
P08575-4	2, CD45R0, CD45RO
P08575-5	3, CD45RAB
P08575-6	4, CD45RAC
P08575-7	5, CD45RBC
P08575-8	6, CD45RA
P08575-9	7, CD45RB
P08575-10	8, CD45RC

RefSeq proteins (3): NP_001254727, NP_002829, NP_563578 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000242	PTP_cat	Domain
IPR000387	Tyr_Pase_dom	Domain
IPR003595	Tyr_Pase_cat	Domain
IPR003961	FN3_dom	Domain
IPR013783	Ig-like_fold	Homologous_superfamily
IPR016130	Tyr_Pase_AS	Active_site
IPR016335	Ptprc	Family
IPR024739	PTP_recept_N	Domain
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR036116	FN3_sf	Homologous_superfamily
IPR050348	Protein-Tyr_Phosphatase	Family

Pfam: PF00041, PF00102, PF12453, PF12567

Catalyzed reactions (Rhea), 1 shown:

• O-phospho-L-tyrosyl-[protein] + H2O = L-tyrosyl-[protein] + phosphate (RHEA:10684)

UniProt features (152 total): strand 53, helix 23, glycosylation site 17, turn 12, modified residue 9, sequence variant 9, splice variant 6, domain 4, region of interest 3, compositionally biased region 3, binding site 3, active site 2, topological domain 2, sequence conflict 2, signal peptide 1, chain 1, transmembrane region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
5FN7	X-RAY DIFFRACTION	2.3
1YGR	X-RAY DIFFRACTION	2.9
1YGU	X-RAY DIFFRACTION	2.9
5FMV	X-RAY DIFFRACTION	2.9
5FN6	X-RAY DIFFRACTION	3.3
8VSE	ELECTRON MICROSCOPY	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P08575-F1	77.22	0.51

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 853 (phosphocysteine intermediate); 1169 (phosphocysteine intermediate)

Ligand- & substrate-binding residues (3): 821; 853–859; 897

Post-translational modifications (9): 683, 975, 994, 997, 1001, 1004, 1005, 1009, 1299

Glycosylation sites (17): 80, 92, 97, 186, 192, 199, 234, 262, 272, 278, 286, 337, 380, 421, 470, 490, 531

Mutagenesis-validated functional residues (1):

Position	Phenotype
853	loss of activity. abolishes interaction with skap1.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-202427	Phosphorylation of CD3 and TCR zeta chains
R-HSA-416700	Other semaphorin interactions
R-HSA-6798695	Neutrophil degranulation

MSigDB gene sets: 732 (showing top): PID_BCR_5PATHWAY, GOBP_REGULATION_OF_T_CELL_RECEPTOR_SIGNALING_PATHWAY, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_6HR_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_ANTIGEN_RECEPTOR_MEDIATED_SIGNALING_PATHWAY, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_NEGATIVE_REGULATION_OF_ERK1_AND_ERK2_CASCADE, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_RESPONSE_TO_IONIZING_RADIATION, WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_NATURAL_KILLER_CELL_DIFFERENTIATION, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_POSITIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE

GO Biological Process (69): negative regulation of transcription by RNA polymerase II (GO:0000122), MAPK cascade (GO:0000165), natural killer cell differentiation (GO:0001779), negative regulation of T cell mediated cytotoxicity (GO:0001915), positive regulation of T cell mediated cytotoxicity (GO:0001916), negative regulation of cytokine-mediated signaling pathway (GO:0001960), hematopoietic progenitor cell differentiation (GO:0002244), positive regulation of immunoglobulin production (GO:0002639), positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925), negative regulation of protein kinase activity (GO:0006469), protein dephosphorylation (GO:0006470), negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933), leukocyte cell-cell adhesion (GO:0007159), signal transduction (GO:0007165), cell surface receptor signaling pathway (GO:0007166), response to gamma radiation (GO:0010332), regulation of gene expression (GO:0010468), dephosphorylation (GO:0016311), B cell differentiation (GO:0030183), T cell differentiation (GO:0030217), positive regulation of B cell proliferation (GO:0030890), regulation of interleukin-8 production (GO:0032677), negative regulation of interleukin-2 production (GO:0032703), positive regulation of interleukin-2 production (GO:0032743), positive regulation of tumor necrosis factor production (GO:0032760), heterotypic cell-cell adhesion (GO:0034113), B cell proliferation (GO:0042100), positive regulation of T cell proliferation (GO:0042102), T cell activation (GO:0042110), gamma-delta T cell differentiation (GO:0042492), positive regulation of MAPK cascade (GO:0043410), cell cycle phase transition (GO:0044770), plasma membrane raft distribution (GO:0044855), positive thymic T cell selection (GO:0045059), negative thymic T cell selection (GO:0045060), positive regulation of gamma-delta T cell differentiation (GO:0045588), positive regulation of protein kinase activity (GO:0045860), negative regulation of receptor signaling pathway via JAK-STAT (GO:0046426), alpha-beta T cell proliferation (GO:0046633), positive regulation of alpha-beta T cell proliferation (GO:0046641)

GO Molecular Function (12): protein tyrosine phosphatase activity (GO:0004725), transmembrane receptor protein tyrosine phosphatase activity (GO:0005001), signaling receptor binding (GO:0005102), heparin binding (GO:0008201), protein kinase binding (GO:0019901), protein tyrosine kinase inhibitor activity (GO:0030292), ankyrin binding (GO:0030506), spectrin binding (GO:0030507), heparan sulfate proteoglycan binding (GO:0043395), phosphoprotein phosphatase activity (GO:0004721), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (14): plasma membrane (GO:0005886), focal adhesion (GO:0005925), external side of plasma membrane (GO:0009897), cytoplasmic side of plasma membrane (GO:0009898), cell surface (GO:0009986), membrane (GO:0016020), secretory granule membrane (GO:0030667), bleb (GO:0032059), membrane raft (GO:0045121), synapse (GO:0045202), extracellular exosome (GO:0070062), membrane microdomain (GO:0098857), cell periphery (GO:0071944), side of membrane (GO:0098552)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
TCR signaling	1
Semaphorin interactions	1
Innate Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
lymphocyte differentiation	3
membrane	3
T cell mediated cytotoxicity	2
regulation of T cell mediated cytotoxicity	2
cytoskeletal protein binding	2
plasma membrane	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
intracellular signaling cassette	1
natural killer cell activation	1
negative regulation of leukocyte mediated cytotoxicity	1
negative regulation of T cell mediated immunity	1
positive regulation of leukocyte mediated cytotoxicity	1
positive regulation of T cell mediated immunity	1
regulation of cytokine-mediated signaling pathway	1
negative regulation of signal transduction	1
cytokine-mediated signaling pathway	1
negative regulation of response to cytokine stimulus	1
hemopoiesis	1
cell differentiation	1
immunoglobulin production	1
regulation of immunoglobulin production	1
positive regulation of production of molecular mediator of immune response	1
humoral immune response mediated by circulating immunoglobulin	1
positive regulation of immunoglobulin mediated immune response	1
positive regulation of humoral immune response	1
regulation of humoral immune response mediated by circulating immunoglobulin	1
negative regulation of protein phosphorylation	1
protein kinase activity	1
negative regulation of kinase activity	1
regulation of protein kinase activity	1
dephosphorylation	1
protein modification process	1
substrate-dependent cell migration	1
negative regulation of cell adhesion	1
cell-cell adhesion	1
cell communication	1
cellular process	1

Protein interactions and networks

STRING

6732 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PTPRC	CD22	P20273	995
PTPRC	LCK	P06239	993
PTPRC	SPN	P16150	991
PTPRC	DPP4	P27487	987
PTPRC	LGALS3	P17931	983
PTPRC	CD47	Q08722	975
PTPRC	PTPRCAP	Q14761	971
PTPRC	ITGAM	P11215	955
PTPRC	CD8A	P01732	945
PTPRC	CD4	P01730	943
PTPRC	CD200	P41217	936
PTPRC	IFNG	P01579	917
PTPRC	CD34	P28906	917
PTPRC	THY1	P04216	912
PTPRC	CD19	P15391	912

IntAct

67 interactions, top by confidence:

A	B	Type	Score
LCK	PTPRC	psi-mi:“MI:0915”(physical association)	0.850
PTPRC	LCK	psi-mi:“MI:0203”(dephosphorylation reaction)	0.850
PTPRC	LCK	psi-mi:“MI:0217”(phosphorylation reaction)	0.850
PTPRC	LCK	psi-mi:“MI:0407”(direct interaction)	0.850
CSK	PTPRC	psi-mi:“MI:0217”(phosphorylation reaction)	0.620
PTPRC	CSK	psi-mi:“MI:0217”(phosphorylation reaction)	0.620
CTNNB1	PTPRC	psi-mi:“MI:0915”(physical association)	0.610
EGFR	PTPRC	psi-mi:“MI:0915”(physical association)	0.590
PTPRC	LGALS1	psi-mi:“MI:0407”(direct interaction)	0.560
ITGAL	PTPRC	psi-mi:“MI:0915”(physical association)	0.510
PTPRC	ITGAL	psi-mi:“MI:0915”(physical association)	0.510
PTPRC	PTPRC	psi-mi:“MI:0407”(direct interaction)	0.510
PTPRC	PTPRC	psi-mi:“MI:0914”(association)	0.510
MRC1	PTPRC	psi-mi:“MI:0407”(direct interaction)	0.440
Csk	PTPRC	psi-mi:“MI:0203”(dephosphorylation reaction)	0.440
CXCR4	PTPRC	psi-mi:“MI:0915”(physical association)	0.400
Lck	PTPRC	psi-mi:“MI:0915”(physical association)	0.400
PTPRC	Lck	psi-mi:“MI:0915”(physical association)	0.400
UHRF2	PTPRC	psi-mi:“MI:0915”(physical association)	0.400
PTPRC	SEMA4D	psi-mi:“MI:0915”(physical association)	0.400
PTPRC	CD22	psi-mi:“MI:0915”(physical association)	0.400
CD244	PTPRC	psi-mi:“MI:0914”(association)	0.350
CD177	MYO1G	psi-mi:“MI:0914”(association)	0.350
PTPRC	Pik3ca	psi-mi:“MI:0914”(association)	0.350
PTPRC	Ptpn6	psi-mi:“MI:0914”(association)	0.350
HLA-G	PTPRC	psi-mi:“MI:0914”(association)	0.350
RMC1	ANXA2P2	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): PTPRC (Affinity Capture-MS), PTPRC (Two-hybrid), PTPRCAP (Affinity Capture-Western), LCK (Reconstituted Complex), FYN (Reconstituted Complex), SRC (Reconstituted Complex), LCK (Biochemical Activity), MAPK1 (Biochemical Activity), PTPRC (Affinity Capture-Western), PTPRC (Affinity Capture-Western), PTPRC (Reconstituted Complex), LCK (Affinity Capture-Western), PTPRC (Two-hybrid), PTPRC (Reconstituted Complex), PTPRC (Affinity Capture-Western)

ESM2 similar proteins: A1L1L3, B3NKK1, B4IMC3, B4NSS9, G5EC24, G5EGA9, G5EGU2, H2KZM6, H2KZW3, O08617, O55082, P04157, P06800, P08575, P18052, P18475, P28192, P29349, P29351, P34138, P34337, P34442, P35235, P41499, P42083, P42159, P81718, Q05209, Q06124, Q10656, Q15256, Q20402, Q22712, Q4JDL3, Q5I124, Q5I128, Q5I137, Q5I138, Q5I139, Q5I141

Diamond homologs: A0A6I8TCE0, A1L1L3, A2A8L5, A2ALK8, A4IFW2, A7MBJ4, B0V2N1, B0X4T2, B1AUH1, B2RU80, B3DK56, B9EKR1, E9Q0N2, E9Q612, F1NWE3, O13016, O14522, O35239, O55082, O82656, O88488, P04157, P06800, P08575, P0C5E4, P10586, P16621, P17706, P18031, P20417, P23467, P23468, P23470, P23471, P26045, P28191, P28192, P28827, P28828, P29074

SIGNOR signaling

29 interactions.

A	Effect	B	Mechanism
PTPRC	“up-regulates activity”	LCK	dephosphorylation
PTPRC	“down-regulates activity”	LCK	dephosphorylation
PTPRC	“up-regulates activity”	FYN	dephosphorylation
PTPRC	“up-regulates activity”	SKAP1	dephosphorylation
CSNK2A2	“up-regulates activity”	PTPRC	phosphorylation
PTPRC	“down-regulates activity”	JAK2	dephosphorylation
CSK	up-regulates	PTPRC	phosphorylation
PTPRC	“down-regulates activity”	PRKCD	dephosphorylation
CSNK2A1	up-regulates	PTPRC	phosphorylation
PTPRC	up-regulates	JAK1	dephosphorylation
PTPRC	up-regulates	JAK3	dephosphorylation
PTPRC	“down-regulates activity”	LYN	dephosphorylation
PTPRC	“down-regulates activity”	JAK1	dephosphorylation
PTPRC	“down-regulates activity”	TYK2	dephosphorylation
PTPRC	“down-regulates activity”	JAK3	dephosphorylation
AML1-ETO	“down-regulates quantity by repression”	PTPRC	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 50 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	8	22.1×	4e-07
Constitutive Signaling by Aberrant PI3K in Cancer	6	21.8×	3e-05
PIP3 activates AKT signaling	9	17.2×	4e-07
Cell surface interactions at the vascular wall	5	13.6×	1e-03
RAF/MAP kinase cascade	7	12.2×	1e-04
Signaling by Receptor Tyrosine Kinases	7	10.3×	2e-04
Hemostasis	6	6.2×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
epidermal growth factor receptor signaling pathway	6	37.2×	3e-06
cell surface receptor protein tyrosine kinase signaling pathway	7	30.4×	9e-07
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	9	17.6×	9e-07
cell-cell adhesion	6	15.2×	3e-04
positive regulation of angiogenesis	5	14.4×	2e-03
positive regulation of MAPK cascade	7	14.1×	9e-05
cell surface receptor signaling pathway	7	11.2×	3e-04
positive regulation of ERK1 and ERK2 cascade	5	10.6×	4e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 4 cancer types — ANSC, DLBCLNOS, HCC, MEL.

Clinical variants and AI predictions

ClinVar

1302 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	19
Likely pathogenic	20
Uncertain significance	397
Likely benign	733
Benign	61

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1420165	NM_002838.5(PTPRC):c.1625_1626dup (p.Asp543fs)	Pathogenic
14457	NM_002838.5(PTPRC):c.1450+1G>A	Pathogenic
14458	NM_002838.5(PTPRC):c.1090_1095del (p.Glu364_Tyr365del)	Pathogenic
1460093	NM_002838.5(PTPRC):c.308C>G (p.Ser103Ter)	Pathogenic
2696181	NM_002838.5(PTPRC):c.3236dup (p.Gln1081fs)	Pathogenic
2725078	NM_002838.5(PTPRC):c.3390_3393del (p.Pro1131fs)	Pathogenic
2761795	NM_002838.5(PTPRC):c.590del (p.Tyr197fs)	Pathogenic
2842452	NM_002838.5(PTPRC):c.2237_2238del (p.Thr746fs)	Pathogenic
2853337	NM_002838.5(PTPRC):c.2017C>T (p.Arg673Ter)	Pathogenic
2864416	NM_002838.5(PTPRC):c.2620del (p.Glu874fs)	Pathogenic
2868091	NM_002838.5(PTPRC):c.260del (p.Pro87fs)	Pathogenic
2876735	NM_002838.5(PTPRC):c.196G>T (p.Glu66Ter)	Pathogenic
3655877	NM_002838.5(PTPRC):c.3041del (p.Pro1014fs)	Pathogenic
3726141	NM_002838.5(PTPRC):c.594_597dup (p.Ala200Ter)	Pathogenic
4847208	NM_002838.5(PTPRC):c.2257C>T (p.Arg753Ter)	Pathogenic
60723	NM_002838.5(PTPRC):c.1624A>T (p.Lys542Ter)	Pathogenic
635760	NM_002838.5(PTPRC):c.2295C>G (p.Tyr765Ter)	Pathogenic
662609	NM_002838.5(PTPRC):c.2362_2363delinsT (p.Arg788fs)	Pathogenic
962354	NM_002838.5(PTPRC):c.2940T>A (p.Tyr980Ter)	Pathogenic
1068274	NM_002838.5(PTPRC):c.1864+2T>A	Likely pathogenic
1468346	NM_002838.5(PTPRC):c.905-2A>G	Likely pathogenic
1677216	NM_002838.5(PTPRC):c.100+1del	Likely pathogenic
2432878	NM_002838.5(PTPRC):c.3897T>G (p.Ser1299Arg)	Likely pathogenic
2732266	NM_002838.5(PTPRC):c.2561+2T>C	Likely pathogenic
2744367	NM_002838.5(PTPRC):c.2403+1G>T	Likely pathogenic
2758396	NM_002838.5(PTPRC):c.659-2A>G	Likely pathogenic
2766425	NM_002838.5(PTPRC):c.73+1G>A	Likely pathogenic
2768582	NM_002838.5(PTPRC):c.3330+2T>C	Likely pathogenic
2808855	NM_002838.5(PTPRC):c.3208-1G>C	Likely pathogenic
2811851	NM_002838.5(PTPRC):c.1864+2T>C	Likely pathogenic

SpliceAI

3671 predictions. Top by Δscore:

Variant	Effect	Δscore
1:198639337:GACAG:G	donor_gain	1.0000
1:198639338:ACAGG:A	donor_loss	1.0000
1:198639339:CAGGT:C	donor_loss	1.0000
1:198639340:AGGT:A	donor_loss	1.0000
1:198639342:GT:G	donor_loss	1.0000
1:198654033:A:G	donor_gain	1.0000
1:198692371:CTGGT:C	donor_loss	1.0000
1:198692372:TGGT:T	donor_loss	1.0000
1:198692374:GTA:G	donor_loss	1.0000
1:198692375:T:G	donor_loss	1.0000
1:198703369:A:AG	donor_gain	1.0000
1:198706728:TTTTA:T	acceptor_loss	1.0000
1:198706729:TTTA:T	acceptor_loss	1.0000
1:198706730:TTAG:T	acceptor_loss	1.0000
1:198706731:TA:T	acceptor_loss	1.0000
1:198706732:A:AG	acceptor_gain	1.0000
1:198706732:A:G	acceptor_loss	1.0000
1:198706732:AGAT:A	acceptor_gain	1.0000
1:198706733:G:GG	acceptor_gain	1.0000
1:198706733:GAT:G	acceptor_gain	1.0000
1:198706733:GATG:G	acceptor_gain	1.0000
1:198706733:GATGA:G	acceptor_gain	1.0000
1:198708257:GTGTG:G	donor_gain	1.0000
1:198709821:GGGA:G	donor_gain	1.0000
1:198709822:GGAG:G	donor_gain	1.0000
1:198709823:GA:G	donor_gain	1.0000
1:198709825:G:GG	donor_gain	1.0000
1:198713003:GGA:G	donor_gain	1.0000
1:198713004:GAG:G	donor_gain	1.0000
1:198713006:G:GG	donor_gain	1.0000

AlphaMissense

8700 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:198731721:T:C	F657L	1.000
1:198731722:T:C	F657S	1.000
1:198731723:T:A	F657L	1.000
1:198731723:T:G	F657L	1.000
1:198732369:C:A	R682S	1.000
1:198732541:T:A	N709K	1.000
1:198732541:T:G	N709K	1.000
1:198732543:C:A	A710D	1.000
1:198732545:A:C	S711R	1.000
1:198732547:C:A	S711R	1.000
1:198732547:C:G	S711R	1.000
1:198734224:C:A	A724D	1.000
1:198734232:G:C	G727R	1.000
1:198734357:T:A	W737R	1.000
1:198734357:T:C	W737R	1.000
1:198734394:T:A	V749D	1.000
1:198735133:T:C	C762R	1.000
1:198741920:T:A	W819R	1.000
1:198741920:T:C	W819R	1.000
1:198741922:G:C	W819C	1.000
1:198741922:G:T	W819C	1.000
1:198742022:T:C	C853R	1.000
1:198742023:G:A	C853Y	1.000
1:198742024:C:G	C853W	1.000
1:198742234:C:A	A855D	1.000
1:198742236:G:C	G856R	1.000
1:198742237:G:A	G856D	1.000
1:198742242:G:A	G858R	1.000
1:198742242:G:C	G858R	1.000
1:198742242:G:T	G858W	1.000

dbSNP variants (sampled 300 via entrez): RS1000012113 (1:198744461 G>C), RS1000014130 (1:198716399 G>A), RS1000029532 (1:198751757 G>A), RS1000064798 (1:198716041 A>T), RS1000079330 (1:198672095 G>A), RS1000079558 (1:198709468 T>C,G), RS1000086984 (1:198755131 C>G), RS1000098046 (1:198699439 T>C,G), RS1000116477 (1:198725379 G>A), RS1000150405 (1:198673278 C>T), RS1000216776 (1:198676321 A>G), RS1000253924 (1:198725065 G>A), RS1000270800 (1:198646231 T>C), RS1000299115 (1:198659754 G>A), RS1000324757 (1:198735072 T>A)

Disease associations

OMIM: gene MIM:151460 | disease phenotypes: MIM:608971, MIM:609532, MIM:619924

GenCC curated gene-disease

Disease	Classification	Inheritance
immunodeficiency 104	Strong	Autosomal recessive
immunodeficiency 105	Strong	Autosomal recessive
T-B+ severe combined immunodeficiency due to CD45 deficiency	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
immunodeficiency 104	Definitive	AR

Mondo (5): immunodeficiency 104 (MONDO:0012163), hepatitis C virus, susceptibility to (MONDO:0012292), immunodeficiency 105 (MONDO:0800104), severe combined immunodeficiency (MONDO:0015974), T-B+ severe combined immunodeficiency due to CD45 deficiency (MONDO:0015702)

Orphanet (1): Severe combined immunodeficiency (Orphanet:183660)

HPO phenotypes

19 total (20 of 19 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000988	Skin rash
HP:0001433	Hepatosplenomegaly
HP:0001876	Pancytopenia
HP:0001888	Decreased total lymphocyte count
HP:0001945	Fever
HP:0002720	Decreased circulating IgA concentration
HP:0002849	Absence of lymph node germinal center
HP:0002850	Decreased circulating total IgM
HP:0003347	Impaired lymphocyte transformation with phytohemagglutinin
HP:0003593	Infantile onset
HP:0003819	Death in childhood
HP:0004313	Decreased circulating immunoglobulin concentration
HP:0004315	Decreased circulating IgG concentration
HP:0005403	Decreased total T cell count
HP:0005404	Increased total B cell count
HP:0010976	Decreased total B cell count
HP:0012191	B-cell lymphoma
HP:0040218	Reduced total natural killer cell count
HP:0004430	Severe combined immunodeficiency

GWAS associations

48 associations (top):

Study	Trait	p-value
GCST000587_11	Mean corpuscular hemoglobin	7.000000e-10
GCST002453_1	Ulcerative colitis	4.000000e-07
GCST003043_164	Inflammatory bowel disease	3.000000e-09
GCST003044_34	Crohn’s disease	1.000000e-10
GCST003622_11	Systemic lupus erythematosus	2.000000e-12
GCST003622_2	Systemic lupus erythematosus	3.000000e-10
GCST004006_16	Mean corpuscular hemoglobin	4.000000e-09
GCST004006_3	Mean corpuscular hemoglobin	6.000000e-08
GCST004132_5	Crohn’s disease	9.000000e-06
GCST004624_200	Sum eosinophil basophil counts	5.000000e-12
GCST004627_132	Lymphocyte count	1.000000e-11
GCST004785_18	Vitiligo	1.000000e-09
GCST005992_26	Mean corpuscular hemoglobin concentration	1.000000e-08
GCST005993_64	Mean corpuscular hemoglobin	2.000000e-47
GCST005996_52	Red blood cell count	3.000000e-18
GCST006011_91	Mean corpuscular volume	3.000000e-44
GCST006048_42	Rheumatoid arthritis (ACPA-positive)	4.000000e-06
GCST007798_14	Asthma	4.000000e-10
GCST007799_32	Asthma (adult onset)	3.000000e-13
GCST007941_23	Medication use (adrenergics, inhalants)	3.000000e-09
GCST008644_6	Celiac disease and Rheumatoid arthritis	3.000000e-08
GCST008916_42	Asthma	3.000000e-08
GCST009798_23	Asthma	7.000000e-10
GCST010002_373	Refractive error	1.000000e-52
GCST010042_104	Asthma	3.000000e-13
GCST010043_89	Asthma	3.000000e-12
GCST010243_250	Apolipoprotein B levels	2.000000e-09
GCST010245_56	LDL cholesterol levels	7.000000e-11
GCST011956_59	Systemic lupus erythematosus	4.000000e-09
GCST90002381_11	Eosinophil count	3.000000e-35

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004842	eosinophil count
EFO:0005090	basophil count
EFO:0004587	lymphocyte count
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004305	erythrocyte count
EFO:1002011	adult onset asthma
EFO:0009941	Inhalant adrenergic use measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007991	eosinophil percentage of leukocytes
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0007989	monocyte percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0007985	platelet crit
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016511	Severe Combined Immunodeficiency	C16.320.798.750; C16.614.815; C18.452.284.800; C20.673.795.750
C563822	Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL3243 (SINGLE PROTEIN), CHEMBL6066037 (PROTEIN-PROTEIN INTERACTION)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10919563	Efficacy	3	adalimumab;etanercept;infliximab;Tumor necrosis factor alpha (TNF-alpha) inhibitors	Rheumatoid arthritis

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10919563	PTPRC	3	2.00	1	adalimumab;etanercept;infliximab;Tumor necrosis factor alpha (TNF-alpha) inhibitors

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: catalytic receptor — Receptor tyrosine phosphatase (RTP) family

Binding affinities (BindingDB)

2 measured of 8 human assays (8 total across all organisms); most potent 2 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
4-Biphenyl-4-yl-2-[(3-carboxy-bicyclo[2.2.1]hept-5-ene-2-carbonyl)-amino]-thiophene-3-carboxylic acid isopropylester	IC50	33000 nM
US8987474, NSC-87877	IC50	84500 nM	US-8987474: Inhibition of Shp2/PTPN11 protein tyrosine phosphatase by NSC-87877, NSC-117199 and their analogs

ChEMBL bioactivities

168 potent at pChembl≥5 of 271 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.82	IC50	150	nM	CHEMBL200117
6.70	IC50	200	nM	CHEMBL51314
6.55	IC50	280	nM	CHEMBL89067
6.55	IC50	280	nM	CHEMBL515797
6.52	IC50	300	nM	CHEMBL567069
6.52	IC50	300	nM	CHEMBL51776
6.40	IC50	400	nM	CHEMBL51781
6.40	IC50	400	nM	CHEMBL51579
6.40	IC50	400	nM	CHEMBL52491
6.40	IC50	400	nM	CHEMBL417727
6.39	IC50	410	nM	CHEMBL1650889
6.34	IC50	460	nM	CHEMBL565795
6.30	IC50	500	nM	CHEMBL584481
6.30	IC50	500	nM	CHEMBL51776
6.30	IC50	500	nM	CHEMBL301801
6.30	IC50	500	nM	CHEMBL50973
6.30	IC50	500	nM	CHEMBL50347
6.30	IC50	500	nM	CHEMBL53966
6.30	IC50	500	nM	CHEMBL50149
6.22	IC50	600	nM	CHEMBL2372871
6.22	IC50	600	nM	CHEMBL2372849
6.22	IC50	600	nM	CHEMBL54131
6.22	IC50	600	nM	CHEMBL2372867
6.22	IC50	600	nM	CHEMBL2372865
6.22	IC50	600	nM	CHEMBL49992
6.22	IC50	600	nM	CHEMBL50878
6.21	IC50	610	nM	CHEMBL565810
6.17	IC50	681	nM	CHEMBL1650892
6.16	IC50	700	nM	CHEMBL129681
6.16	IC50	700	nM	CHEMBL2372854
6.16	IC50	700	nM	CHEMBL2372885
6.16	IC50	700	nM	CHEMBL2372864
6.16	IC50	700	nM	CHEMBL2372874
6.16	IC50	700	nM	9,10-PHENANTHRENEQUINONE
6.16	IC50	700	nM	CHEMBL51257
6.16	IC50	700	nM	CHEMBL298384
6.16	IC50	700	nM	CHEMBL2372858
6.16	IC50	700	nM	CHEMBL2372878
6.16	IC50	700	nM	CHEMBL2372889
6.10	IC50	800	nM	CHEMBL300241
6.10	IC50	800	nM	CHEMBL50846
6.10	IC50	800	nM	CHEMBL300664
6.10	IC50	800	nM	CHEMBL2372868
6.10	IC50	800	nM	CHEMBL50161
6.10	IC50	800	nM	CHEMBL2372872
6.10	IC50	800	nM	CHEMBL51583
6.10	IC50	800	nM	CHEMBL49236
6.08	IC50	840	nM	CHEMBL51447
6.06	IC50	877	nM	CHEMBL1650893
6.05	IC50	900	nM	CHEMBL2316908

PubChem BioAssay actives

168 with measured affinity, of 513 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
2-[4-[7-(4-tetradecylbenzoyl)cyclopenta[d]oxazin-4-yl]phenoxy]acetic acid	259929: Inhibitory activity against CD45 phosphatase	ic50	0.1500	uM
N-(9,10-dioxophenanthren-2-yl)-2,2-dimethylpropanamide	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.2000	uM
2-[4-[3,5-bis(trifluoromethyl)phenyl]-2-hydroxy-6-[[3-(trifluoromethyl)phenyl]methoxy]phenoxy]acetic acid	342514: Inhibition of CD45	ic50	0.2800	uM
2-[(4-methylsulfanyl-2-pyridinyl)methylsulfinyl]-6-propan-2-yloxy-1H-benzimidazole	42790: The compound was evaluated for its inhibitory activity towards Protein tyrosine phosphatase of CD45	ic50	0.2800	uM
methyl 4-[[7-[(4-methoxy-4-oxobutanoyl)amino]-9,10-dioxophenanthren-2-yl]amino]-4-oxobutanoate	42928: Inhibitory concentration against CD45 protein-tyrosine phosphatase using lck-10 mer as substrate	ic50	0.3000	uM
2-[(5Z)-5-[[3-[4-[(2-chlorophenyl)methoxy]phenyl]-1-phenylpyrazol-4-yl]methylidene]-4-oxo-2-sulfanylidene-1,3-thiazolidin-3-yl]ethanesulfonic acid	443926: Inhibition of recombinant CD45	ic50	0.3000	uM
phenanthrene-9,10-dione	1799795: Phosphatase Activity Assay from Article 10.1074/jbc.M809633200: “Reduced expression of CD45 protein-tyrosine phosphatase provides protection against anthrax pathogenesis.”	ic50	0.3000	uM
methyl 4-[(9,10-dioxophenanthren-1-yl)amino]-4-oxobutanoate	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.4000	uM
methyl 4-[(9,10-dioxophenanthren-3-yl)amino]-4-oxobutanoate	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.4000	uM
2-bromophenanthrene-9,10-dione	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.4000	uM
2-aminophenanthrene-9,10-dione	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.4000	uM
6-hydroxy-2-(4-methoxyphenyl)-3-[1-[4-(naphthalen-1-ylamino)-4-oxobutyl]triazol-4-yl]-1-benzofuran-5-carboxylic acid	566824: Inhibition of CD45	ic50	0.4100	uM
2-[(5Z)-5-[[3-[4-[(4-chlorophenyl)methoxy]phenyl]-1-phenylpyrazol-4-yl]methylidene]-4-oxo-2-sulfanylidene-1,3-thiazolidin-3-yl]ethanesulfonic acid	443926: Inhibition of recombinant CD45	ic50	0.4600	uM
3-nitrophenanthrene-9,10-dione	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.5000	uM
N-(9,10-dioxophenanthren-2-yl)-2-phenylmethoxyacetamide	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.5000	uM
2-[(9,10-dioxophenanthrene-3-carbonyl)amino]acetic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.5000	uM
methyl 8-[(9,10-dioxophenanthren-2-yl)amino]-8-oxooctanoate	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.5000	uM
2-[(5Z)-5-[[3-[4-[(2-fluorophenyl)methoxy]phenyl]-1-phenylpyrazol-4-yl]methylidene]-4-oxo-2-sulfanylidene-1,3-thiazolidin-3-yl]ethanesulfonic acid	443926: Inhibition of recombinant CD45	ic50	0.5000	uM
4-nitrophenanthrene-9,10-dione	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.5000	uM
tert-butyl 2-[(9,10-dioxophenanthrene-2-carbonyl)amino]acetate	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.6000	uM
tert-butyl 2-[(9,10-dioxophenanthrene-3-carbonyl)amino]acetate	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.6000	uM
(4S)-5-(carboxymethylamino)-4-[[(2S)-1-[(2S)-5-(diaminomethylideneamino)-2-[[(2S)-5-(diaminomethylideneamino)-2-[(9,10-dioxophenanthrene-2-carbonyl)amino]pentanoyl]amino]pentanoyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.6000	uM
(4S)-5-(carboxymethylamino)-4-[[(2S)-1-[2-[[2-[(9,10-dioxophenanthrene-2-carbonyl)amino]acetyl]amino]acetyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.6000	uM
(2S)-1-[(2S)-5-amino-2-[[(2S)-1-[(2S)-5-amino-2-[[(2S)-4-carboxy-2-[(9,10-dioxophenanthrene-3-carbonyl)amino]butanoyl]amino]-5-oxopentanoyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoyl]pyrrolidine-2-carboxylic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.6000	uM
(2S)-1-[(2S)-5-amino-2-[[2-[[(2S)-5-amino-2-[[(2S)-4-carboxy-2-[(9,10-dioxophenanthrene-3-carbonyl)amino]butanoyl]amino]-5-oxopentanoyl]amino]acetyl]amino]-5-oxopentanoyl]pyrrolidine-2-carboxylic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.6000	uM
N-(9,10-dioxophenanthren-2-yl)-2-fluorobenzamide	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.6000	uM
2-[(5Z)-4-oxo-5-[[1-phenyl-3-(4-phenylmethoxyphenyl)pyrazol-4-yl]methylidene]-2-sulfanylidene-1,3-thiazolidin-3-yl]ethanesulfonic acid	443926: Inhibition of recombinant CD45	ic50	0.6100	uM
6-hydroxy-2-(4-methylphenyl)-3-[1-[4-(naphthalen-1-ylamino)-4-oxobutyl]triazol-4-yl]-1-benzofuran-5-carboxylic acid	566824: Inhibition of CD45	ic50	0.6810	uM
2-[4-[[4-[(4-oxalophenoxy)methyl]phenyl]methoxy]phenyl]-2-oxoacetic acid	164859: Concentration required for 50% Inhibition of activity against Yersinia Protein-tyrosine phosphatase	ic50	0.7000	uM
N-(9,10-dioxophenanthren-2-yl)butanamide	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
(4S)-4-[[(2S)-1-[(2S)-2-[[(2S)-4-carboxy-2-[(9,10-dioxophenanthrene-2-carbonyl)amino]butanoyl]amino]-5-(diaminomethylideneamino)pentanoyl]pyrrolidine-2-carbonyl]amino]-5-(carboxymethylamino)-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
(2S)-1-[(2S)-5-amino-2-[[2-[[(2S)-4-carboxy-2-[[2-[(9,10-dioxophenanthrene-3-carbonyl)amino]acetyl]amino]butanoyl]amino]acetyl]amino]-5-oxopentanoyl]pyrrolidine-2-carboxylic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
(4S)-5-[[2-[(2S)-2-[[(2S)-1-(carboxymethylamino)-5-(diaminomethylideneamino)-1-oxopentan-2-yl]carbamoyl]pyrrolidin-1-yl]-2-oxoethyl]amino]-4-[(9,10-dioxophenanthrene-2-carbonyl)amino]-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
(2S)-1-[(2S)-5-amino-2-[[(2S)-1-[(2S)-5-amino-2-[[(2S)-5-amino-2-[(9,10-dioxophenanthrene-3-carbonyl)amino]-5-oxopentanoyl]amino]-5-oxopentanoyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoyl]pyrrolidine-2-carboxylic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
methyl 8-[(9,10-dioxophenanthren-3-yl)amino]-8-oxooctanoate	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
(4S)-4-[[(2S)-1-[(2S)-5-amino-2-[[2-[(9,10-dioxophenanthrene-2-carbonyl)amino]acetyl]amino]-5-oxopentanoyl]pyrrolidine-2-carbonyl]amino]-5-(carboxymethylamino)-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
(4S)-5-[(2S)-2-[[(2S)-5-amino-1-(carboxymethylamino)-1,5-dioxopentan-2-yl]carbamoyl]pyrrolidin-1-yl]-4-[[2-[(9,10-dioxophenanthrene-2-carbonyl)amino]acetyl]amino]-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
(2S)-1-[(2S)-5-amino-2-[[(2S)-1-[(2S)-4-carboxy-2-[[2-[(9,10-dioxophenanthrene-3-carbonyl)amino]acetyl]amino]butanoyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoyl]pyrrolidine-2-carboxylic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.7000	uM
N-(9,10-dioxophenanthren-3-yl)butanamide	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
methyl 5-[(9,10-dioxophenanthren-3-yl)amino]-5-oxopentanoate	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
(4S)-5-[(2S)-2-[[(2S)-1-(carboxymethylamino)-5-(diaminomethylideneamino)-1-oxopentan-2-yl]carbamoyl]pyrrolidin-1-yl]-4-[[2-[(9,10-dioxophenanthrene-2-carbonyl)amino]acetyl]amino]-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
2-(2-fluorophenyl)phenanthrene-9,10-dione	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
2-thiophen-3-ylphenanthrene-9,10-dione	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
2-[(9,10-dioxophenanthrene-2-carbonyl)amino]acetic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
4-aminophenanthrene-9,10-dione	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
(4S)-5-[[(2S)-1-[(2S)-2-[[(2S)-1-(carboxymethylamino)-5-(diaminomethylideneamino)-1-oxopentan-2-yl]carbamoyl]pyrrolidin-1-yl]-5-(diaminomethylideneamino)-1-oxopentan-2-yl]amino]-4-[(9,10-dioxophenanthrene-2-carbonyl)amino]-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.8000	uM
4-phenylnaphthalene-1,2-dione	42793: In vitro inhibitory activity against recombinant human CD45 using fluorescein diphosphate (FDP) as a substrate	ic50	0.8400	uM
6-hydroxy-3-[1-[4-[(6-methoxy-1,3-benzothiazol-2-yl)amino]-4-oxobutyl]triazol-4-yl]-2-(3-methylphenyl)-1-benzofuran-5-carboxylic acid	566824: Inhibition of CD45	ic50	0.8770	uM
(2S)-1-[(2S)-5-amino-2-[[2-[[(2S)-5-amino-2-[[(2S)-5-amino-2-[(9,10-dioxophenanthrene-3-carbonyl)amino]-5-oxopentanoyl]amino]-5-oxopentanoyl]amino]acetyl]amino]-5-oxopentanoyl]pyrrolidine-2-carboxylic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.9000	uM
(4S)-5-(carboxymethylamino)-4-[[(2S)-1-[2-[[(2S)-5-(diaminomethylideneamino)-2-[(9,10-dioxophenanthrene-2-carbonyl)amino]pentanoyl]amino]acetyl]pyrrolidine-2-carbonyl]amino]-5-oxopentanoic acid	42805: In vitro inhibitory activity against the cytosolic portion of CD45 protein-tyrosine phosphatase using pNPP as the substrate	ic50	0.9000	uM

CTD chemical–gene interactions

47 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic Trioxide	increases response to substance, increases expression, affects response to substance	2
Benzo(a)pyrene	decreases expression, increases expression	2
Methotrexate	decreases expression	2
Nickel	increases expression	2
Tretinoin	increases expression	2
Particulate Matter	increases expression	2
beauvericin	affects cotreatment, increases expression	1
lasiocarpine	decreases expression	1
chlortoluron	decreases expression	1
tetrathiomolybdate	increases expression	1
tiotidine	decreases expression, decreases reaction, increases activity, affects binding	1
butylbenzyl phthalate	decreases expression	1
tesmilifene	decreases expression	1
alpha-fluoromethylhistamine	decreases chemical synthesis, decreases expression	1
N,N-diacetylcystine	affects expression	1
cordycepin	affects expression	1
tamibarotene	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
tebuconazole	increases expression	1
CGP 52608	affects binding, increases reaction	1
enniatins	affects cotreatment, increases expression	1
2-(oxalylamino)benzoic acid	decreases activity	1
cotylenin A	increases expression	1
dimethylarsinous acid	decreases activity	1
thiamet G	increases expression	1
Calcimycin	increases expression, affects response to substance	1
Acetaminophen	increases expression	1
Azacitidine	increases expression	1
Benzene	increases expression	1
Cadmium	decreases expression	1

ChEMBL screening assays

111 unique, capped per target: 110 binding, 1 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1032437	Binding	Inactivation of CD45	Structure-based virtual screening and biological evaluation of Mycobacterium tuberculosis adenosine 5’-phosphosulfate reductase inhibitors. — J Med Chem
CHEMBL4626309	ADMET	Inhibition of CD45 (unknown origin) expressed in Escherichia coli BL21 using p-nitrophenyl phosphate as substrate measured after 30 mins by UV-vis spectrophotometric method	Highly Potent and Selective N-Aryl Oxamic Acid-Based Inhibitors for Mycobacterium tuberculosis Protein Tyrosine Phosphatase B. — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TH63	HAP1 PTPRC (-) 1	Cancer cell line	Male
CVCL_TH64	HAP1 PTPRC (-) 2	Cancer cell line	Male
CVCL_TH65	HAP1 PTPRC (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

44 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00220766	PHASE3	COMPLETED	Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients
NCT01420627	PHASE3	COMPLETED	EZN-2279 in Patients With ADA-SCID
NCT06940570	PHASE3	SUSPENDED	Methadone as an Alternative Treatment for Children Underdoing HSCT
NCT00000603	PHASE2	COMPLETED	Cord Blood Stem Cell Transplantation Study (COBLT)
NCT00794508	PHASE2	COMPLETED	MND-ADA Transduction of CD34+ Cells From Children With ADA-SCID
NCT01182675	PHASE2	TERMINATED	Hematopoietic Stem Cell Transplantation (HSCT) for Children With SCID Utilizing Alemtuzumab, Plerixafor & Filgrastim
NCT01529827	PHASE2	COMPLETED	Fludarabine Phosphate, Melphalan, and Low-Dose Total-Body Irradiation Followed by Donor Peripheral Blood Stem Cell Transplant in Treating Patients With Hematologic Malignancies
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT02177760	PHASE2	WITHDRAWN	Sirolimus Prophylaxis for aGVHD in TME SCID
NCT03619551	PHASE2	ACTIVE_NOT_RECRUITING	Conditioning SCID Infants Diagnosed Early
NCT00008450	PHASE1	COMPLETED	Total-Body Irradiation Followed By Cyclosporine and Mycophenolate Mofetil in Treating Patients With Severe Combined Immunodeficiency Undergoing Donor Bone Marrow Transplant
NCT00028236	PHASE1	COMPLETED	Stem Cell Gene Therapy to Treat X-Linked Severe Combined Immunodeficiency (XSCID)
NCT00152100	PHASE1	COMPLETED	Transplantation of Hematopoietic Cells in Children With Severe Combined Immunodeficiency Syndrome
NCT02860559	PHASE1	UNKNOWN	Safety and Early Efficacy Study of TBX-1400 in Patients With Severe Combined Immunodeficiency
NCT01019876	PHASE2/PHASE3	COMPLETED	Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Non-Malignant Diseases
NCT00228852	PHASE1/PHASE2	COMPLETED	IMM 0212: Busulfan With Fludarabine and Antithymocyte Globulin as Preparative Therapy for Hematopoietic Stem Cell Transplant for the Treatment of Severe Congenital T-Cell Immunodeficiency
NCT00579137	PHASE1/PHASE2	TERMINATED	Allogeneic SCT Of Pts With SCID And Other Primary Immunodeficiency Disorders
NCT01129544	PHASE1/PHASE2	COMPLETED	Gene Transfer for Severe Combined Immunodeficiency, X-linked (SCID-X1) Using a Self-inactivating (SIN) Gammaretroviral Vector
NCT01852370	PHASE1/PHASE2	ENROLLING_BY_INVITATION	Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases
NCT02127892	PHASE1/PHASE2	TERMINATED	SCID Bu/Flu/ATG Study With T Cell Depletion
NCT02963064	PHASE1/PHASE2	TERMINATED	JSP191 Antibody Targeting Conditioning in SCID Patients
NCT03513328	PHASE1/PHASE2	COMPLETED	Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation
NCT03538899	PHASE1/PHASE2	RECRUITING	Autologous Gene Therapy for Artemis-Deficient SCID
NCT03597594	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Haplocompatible Transplant Using TCRα/β Depletion Followed by CD45RA-Depleted Donor Lymphocyte Infusions for Severe Combined Immunodeficiency (SCID)
NCT00001255	Not specified	COMPLETED	Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) Due to Adenosine Deaminase (ADA) Deficiency: A Natural History Study
NCT00006054	Not specified	TERMINATED	Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies
NCT00006335	Not specified	COMPLETED	Influences on Female Adolescents’ Decisions Regarding Testing for Carrier Status of XSCID
NCT00055172	Not specified	RECRUITING	Genetic Basis of Immunodeficiency
NCT00695279	Not specified	COMPLETED	Long Term Follow Up Of Patients Who Have Received Gene Therapy Or Gene Marked Products
NCT00845416	Not specified	COMPLETED	Newborn Screening for Severe Combined Immunodeficiency (SCID) in a High-Risk Population
NCT01186913	Not specified	ENROLLING_BY_INVITATION	Natural History Study of SCID Disorders
NCT01346150	Not specified	UNKNOWN	Patients Treated for SCID (1968-Present)
NCT01652092	Not specified	ACTIVE_NOT_RECRUITING	Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies
NCT01953016	Not specified	COMPLETED	Participation in a Research Registry for Immune Disorders
NCT02231983	Not specified	UNKNOWN	Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
NCT02590328	Not specified	COMPLETED	Neonatal Screening of Severe Combined Immunodeficiencies
NCT04049084	Not specified	ENROLLING_BY_INVITATION	An Observational LTFU Study for Patients Previously Treated With Autologous ex Vivo Gene Therapy for ADA-SCID
NCT04172181	Not specified	UNKNOWN	Multi-center Clinical Study of Cord Blood Stem Cell Transplantation for SCID
NCT04246840	Not specified	COMPLETED	Study Through Imaging of Visceral Lymphoid Organs in Patients With SCID Who Have Recieved Bone Marrow Allograft
NCT04331483	Not specified	WITHDRAWN	A Study to Assess a Physical Activity Program in Children, Adolescents and Young Adults Requiring Hematopoietic Stem Cell Allografts