PTPRC (protein tyrosine phosphatase receptor type C)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5788
Gene name Gene Name - the full gene name approved by the HGNC.
Protein tyrosine phosphatase receptor type C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PTPRC
Synonyms (NCBI Gene) Gene synonyms aliases
B220, CD45, CD45R, GP180, IMD105, L-CA, LCA, LY5, T200
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.3-q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ESR2 Unknown 11517296
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
151460 9666 ENSG00000081237
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
YNKETKLFTAKLNVNENVECGNNTCTNNEVHNLTECKNASVSISHNSCTAPDKTLILDVP
PGVEKFQLHDCTQVEKADTTICLKWKNIETFTCDTQNITYRFQCGNMIFDNKEIKLENLE
PEHEYKCDSEILYNNHKFTNASKIIKTDFGSPGEPQIIFCRSEAAHQGVITWNPPQRSFH
NFTLCYIKETEKDCLNLDKNLIKYDLQNLKPYTKYVLSLHAYIIAKVQRNGSAAMCHFTT
KSAPPSQVWNMTVSMTSDNSMHVKCRPPRDRNGPHERYHLEVEAGNTLVRNESHKNCDFR
VKDLQYSTDYTFKAYFHNGDYPGEPFILHHSTSYNSKALIAFLAFLIIVTSIALLVVLYK
IYDLHKKRSCNLDEQQELVERDDEKQLMNVEPIHADILLETYKRKIADEGRLFLAEFQSI
PRVFSKFPIKEARKPFNQNKNRYVDILPYDYNRVELSEINGDAGSNYINASYIDGFKEPR
KYIAAQGPRDETVDDFWRMIWEQKATVIVMVTRCEEGNRNKCAEYWPSMEEGTRAFGDVV
VKINQHKRCPDYIIQKLNIVNKKEKATGREVTHIQFTSWPDHGVPEDPHLLLKLRRRVNA
FSNFFSGPIVVHCSAGVGRTGTYIGIDAMLEGLEAENKVDVYGYVVKLRRQRCLMVQVEA
QYILIHQALVEYNQFGETEVNLSELHPYLHNMKKRDPPSEPSPLEAEFQRLPSYRSWRTQ
HIGNQEENKSKNRNSNVIPYDYNRVPLKHELEMSKESEHDSDESSDDDSDSEEPSKYINA
SFIMSYWKPEVMIAAQGPLKETIGDFWQMIFQRKVKVIVMLTELKHGDQEICAQYWGEGK
QTYGDIEVDLKDTDKSSTYTLRVFELRHSKRKDSRTVYQYQYTNWSVEQLPAEPKELISM
IQVVKQKLPQKNSSEGNKHHKSTPLLIHCRDGSQQTGIFCALLNLLESAETEEVVDIFQV
VKALRKARPGMVSTFEQYQFLYDVIASTYPAQNGQVKKNNHQEDKIEFDNEVDKVKQDAN
CVNPLGAPEKLPEAKEQAEGSEPTSGTEGPEHSVNGPASPALNQGS
Sequence length 1306
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency Immunodeficiency 105, Immunodeficiency 104 rs1571865049, rs398122383, rs1553243550, rs1571880832, rs137869655, rs1571880941 N/A
Show/Hide Unknown Diseases (10)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Pediatric asthma, Age of onset of adult onset asthma, Asthma, Asthma (adult onset) N/A N/A GWAS
Crohn Disease Crohn's disease N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Hyperthyroidism Hyperthyroidism N/A N/A GWAS
Show/Hide Text Mining Associations (377)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 22606231
Achondroplasia and Swiss type agammaglobulinemia Associate 1373352, 21488866
Acne Vulgaris Associate 31281837
Acquired Immunodeficiency Syndrome Associate 15996199, 7612102
Acquired Immunodeficiency Syndrome Inhibit 16721821
Acute Disease Associate 1320953, 21323873, 9158095
Adenocarcinoma Associate 21054833, 32487090, 32509861
Adenocarcinoma of Lung Associate 30587197, 34863300, 34887322, 37061716, 37671160
Adrenal Gland Diseases Associate 11473470
Alcoholism Stimulate 32725203