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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1084
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV003516231
RCV003514125
RCV003514785
RCV003515191
RCV003515790
RCV003515974
RCV003515924
RCV003627789
RCV003627831
RCV003627952
RCV003627942
RCV003628386
RCV003628401
RCV003628572
RCV003626290
RCV003626344
RCV003626448
RCV003627434
RCV000640060
RCV000787279
RCV003626641
RCV000820287
RCV001236197
Immunodeficiency 105 Pathogenic; Likely pathogenic rs2102393172, rs754092059, rs1571865049, rs2527818757, rs1654941272, rs137869655, rs398122383 RCV002283573
RCV003133723
RCV002260598
RCV002260599
RCV005013089
RCV005013162
RCV002260603
Severe combined immunodeficiency disease Likely pathogenic rs1665977328 RCV002223074
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Likely benign rs59271985, rs79141749, rs774932185 RCV005921990
RCV005900851
RCV005910578
Cervical cancer Likely benign; Benign rs768853912, rs774932185 RCV005928281
RCV005910580
Chronic lymphocytic leukemia/small lymphocytic lymphoma Likely benign rs749945770 RCV005926033
Familial cancer of breast Benign rs774932185 RCV005910576
Associations from Text MiningDisease 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