Gene Gene information from NCBI Gene database.
Entrez ID 5788
Gene name Protein tyrosine phosphatase receptor type C
Gene symbol PTPRC
Synonyms (NCBI Gene)
B220CD45CD45RGP180IMD105L-CALCALY5T200
Chromosome 1
Chromosome location 1q31.3-q32.1
Summary 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 transforma
SNPs SNP information provided by dbSNP.
11
SNP ID Visualize variation Clinical significance Consequence
rs114970039 T>C Likely-pathogenic, uncertain-significance Genic downstream transcript variant, missense variant, coding sequence variant
rs116464756 A>T Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign Genic downstream transcript variant, missense variant, coding sequence variant
rs137869655 G>A,T Likely-pathogenic Genic downstream transcript variant, intron variant, splice donor variant
rs142941257 G>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, genic downstream transcript variant, missense variant
rs150672767 G>A Conflicting-interpretations-of-pathogenicity Missense variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
16
miRTarBase ID miRNA Experiments Reference
MIRT722509 hsa-miR-4464 HITS-CLIP 19536157
MIRT722508 hsa-miR-4748 HITS-CLIP 19536157
MIRT722507 hsa-miR-4653-3p HITS-CLIP 19536157
MIRT722506 hsa-miR-3198 HITS-CLIP 19536157
MIRT722505 hsa-miR-4309 HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ESR2 Unknown 11517296
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
141
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IGI 12574355
GO:0000165 Process MAPK cascade IEA
GO:0001779 Process Natural killer cell differentiation IEA
GO:0001779 Process Natural killer cell differentiation ISS
GO:0001915 Process Negative regulation of T cell mediated cytotoxicity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
151460 9666 ENSG00000081237
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08575
Protein name Receptor-type tyrosine-protein phosphatase C (EC 3.1.3.48) (Leukocyte common antigen) (L-CA) (T200) (CD antigen CD45)
Protein function Protein tyrosine-protein phosphatase required for T-cell activation through the antigen receptor (PubMed:35767951). Acts as a positive regulator of T-cell coactivation upon binding to DPP4. The first PTPase domain has enzymatic activity, while t
PDB 1YGR , 1YGU , 5FMV , 5FN6 , 5FN7 , 8VSE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12453 PTP_N 7 32 Protein tyrosine phosphatase N terminal Family
PF12567 CD45 237 295 Leukocyte receptor CD45 Family
PF00041 fn3 392 466 Fibronectin type III domain Domain
PF00041 fn3 486 565 Fibronectin type III domain Domain
PF00102 Y_phosphatase 677 911 Protein-tyrosine phosphatase Domain
PF00102 Y_phosphatase 968 1227 Protein-tyrosine phosphatase Domain
Tissue specificity 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: Detect
Sequence
MTMYLWLKLLAFGFAFLDTEVFVTGQSPTPSPTGLTTAKMPSVPLSSDPLPTHTTAFSPA
STFERENDFSETTTSLSPDNTSTQVSPDSLDNASAFNTTGVSSVQTPHLPTHADSQTPSA
GTDTQTFSGSAANAKLNPTPGSNAISDVPGERSTASTFPTDPVSPLTTTLSLAHHSSAAL
PARTSNTTITANTSDAYLNASETTTLSPSGSAVISTTTIATTPSKPTCDEKYANITVDYL
YNKETKLFTAKLNVNENVECGNNTCTNNEVHNLTECKNASVSISHNSCTAPDKTL
ILDVP
PGVEKFQLHDCTQVEKADTTICLKWKNIETFTCDTQNITYRFQCGNMIFDNKEIKLENLE
PEHEYKCDSEILYNNHKFTNASKIIKTDFGSPGEPQIIFCRSEAAHQGVITWNPPQRSFH
NFTLCYIKETEKDCLNLDKNLIKYDLQNLKPYTKYVLSLHAYIIAK
VQRNGSAAMCHFTT
KSAPPSQVWNMTVSMTSDNSMHVKCRPPRDRNGPHERYHLEVEAGNTLVRNESHKNCDFR
VKDLQYSTDYTFKAYFHNGDYPGEP
FILHHSTSYNSKALIAFLAFLIIVTSIALLVVLYK
IYDLHKKRSCNLDEQQELVERDDEKQLMNVEPIHADILLETYKRKIADEGRLFLAEFQSI
PRVFSKFPIKEARKPFNQNKNRYVDILPYDYNRVELSEINGDAGSNYINASYIDGFKEPR
KYIAAQGPRDETVDDFWRMIWEQKATVIVMVTRCEEGNRNKCAEYWPSMEEGTRAFGDVV
VKINQHKRCPDYIIQKLNIVNKKEKATGREVTHIQFTSWPDHGVPEDPHLLLKLRRRVNA
FSNFFSGPIVVHCSAGVGRTGTYIGIDAMLEGLEAENKVDVYGYVVKLRRQRCLMVQVEA
QYILIHQALVE
YNQFGETEVNLSELHPYLHNMKKRDPPSEPSPLEAEFQRLPSYRSWRTQ
HIGNQEENKSKNRNSNVIPYDYNRVPLKHELEMSKESEHDSDESSDDDSDSEEPSKYINA
SFIMSYWKPEVMIAAQGPLKETIGDFWQMIFQRKVKVIVMLTELKHGDQEICAQYWGEGK
QTYGDIEVDLKDTDKSSTYTLRVFELRHSKRKDSRTVYQYQYTNWSVEQLPAEPKELISM
IQVVKQKLPQKNSSEGNKHHKSTPLLIHCRDGSQQTGIFCALLNLLESAETEEVVDIFQV
VKALRKARPGMVSTFEQYQFLYDVIAS
TYPAQNGQVKKNNHQEDKIEFDNEVDKVKQDAN
CVNPLGAPEKLPEAKEQAEGSEPTSGTEGPEHSVNGPASPALNQGS
Sequence length 1306
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell adhesion molecules
T cell receptor signaling pathway
Fc gamma R-mediated phagocytosis
Salmonella infection
Primary immunodeficiency
  Phosphorylation of CD3 and TCR zeta chains
Other semaphorin interactions
Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
44
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 104 Likely pathogenic; Pathogenic rs2102475830, rs2102415377, rs2102393172, rs2102445016, rs2528046063, rs2527991012, rs2528049157, rs1553243550, rs2527787867, rs2527780456, rs2528046958, rs2527386785, rs745816899, rs1654941272, rs2528037788
View all (10 more)
RCV001379776
RCV001968938
RCV001963234
RCV001914067
RCV003514758
View all (23 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunodeficiency 105 Pathogenic; Likely pathogenic rs2102393172, rs754092059, rs1571865049, rs2527818757, rs1654941272, rs137869655, rs398122383 RCV002283573
RCV003133723
RCV002260598
RCV002260599
RCV005013089
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency disease Likely pathogenic rs1665977328 RCV002223074
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 14759987
★☆☆☆☆
Found in Text Mining only
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 1386525
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 26415521, 27748273
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 15314282, 20477810, 23911702, 27748273
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 16886168
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 15108165
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25347711
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28855268
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 20477810
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 15754003
★☆☆☆☆
Found in Text Mining only