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PTPRC Gene(Protein Coding)

Protein Tyrosine Phosphatase, Receptor Type C

GCID:
GC01P198607
GIFtS:
58
Genes Participants
UDN Logo

Aliases for PTPRC Gene

Aliases for PTPRC Gene

  • Protein Tyrosine Phosphatase, Receptor Type C 2 3 5
  • CD45 Antigen 3 4
  • CD45 3 4
  • L-CA 3 4
  • T200 3 4
  • Protein Tyrosine Phosphatase, Receptor Type, C Polypeptide 3
  • Receptor-Type Tyrosine-Protein Phosphatase C 3
  • T200 Leukocyte Common Antigen 3
  • Leukocyte Common Antigen 4
  • T200 Glycoprotein 3
  • EC 3.1.3.48 4
  • CD45R 3
  • GP180 3
  • B220 3
  • LCA 3
  • LY5 3

External Ids for PTPRC Gene

Previous HGNC Symbols for PTPRC Gene

  • CD45

Previous GeneCards Identifiers for PTPRC Gene

  • GC01P196335
  • GC01P194066
  • GC01P195074
  • GC01P195896
  • GC01P195339
  • GC01P196874
  • GC01P169775

Summaries for PTPRC Gene

Entrez Gene Summary for PTPRC 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 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. [provided by RefSeq, Jun 2012]

GeneCards Summary for PTPRC Gene

PTPRC (Protein Tyrosine Phosphatase, Receptor Type C) is a Protein Coding gene. Diseases associated with PTPRC include Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive and Hepatitis C Virus. Among its related pathways are T cell receptor signaling pathway and Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include protein kinase binding and phosphatase activity. An important paralog of this gene is PTPRD.

UniProtKB/Swiss-Prot for PTPRC Gene

  • 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 (By similarity).

Gene Wiki entry for PTPRC Gene

Additional gene information for PTPRC Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPRC Gene

Genomics for PTPRC Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PTPRC Gene

Promoters and enhancers for PTPRC Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01J198636 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.8 1786 7.7 ATF1 PKNOX1 SMAD1 IRF4 ATF7 RUNX3 JUNB MYNN NBN HMBOX1 PTPRC ATP6V1G3 ENSG00000261573
GH01J198648 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 34.4 +15.7 15665 11.6 ATF1 SMAD1 FEZF1 TCF12 ELK1 RUNX3 TSHZ1 MAFF SMARCA4 NBN PTPRC ATP6V1G3 LOC105371679 ENSG00000261573
GH01J198617 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 30.5 -16.6 -16577 8 HDGF PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ZNF207 ATF7 FOS PTPRC NEK7 ENSG00000223881
GH01J198660 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 17.8 +37.9 37885 32.1 PKNOX1 SMAD1 FOXA2 NEUROD1 FEZF1 IRF4 YY1 POLR2B ZNF766 ZNF213 PTPRC ATP6V1G3 LOC105371679 GC01P198684 PEBP1P3 PIR61364 ENSG00000261573
GH01J198556 Enhancer 1.3 FANTOM5 Ensembl ENCODE 8.3 -81.2 -81233 2 HDGF PKNOX1 ATF1 IRF4 ZNF143 ATF7 RUNX3 REST ZNF592 GMEB1 PTPRC ATP6V1G3 ENSG00000223881
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PTPRC on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PTPRC gene promoter:

Genomic Locations for PTPRC Gene

Genomic Locations for PTPRC Gene
chr1:198,638,457-198,757,476
(GRCh38/hg38)
Size:
119,020 bases
Orientation:
Plus strand
chr1:198,607,801-198,726,545
(GRCh37/hg19)

Genomic View for PTPRC Gene

Genes around PTPRC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPRC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PTPRC Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PTPRC Gene

Proteins for PTPRC Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for PTPRC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08575-PTPRC_HUMAN
    Recommended name:
    Receptor-type tyrosine-protein phosphatase C
    Protein Accession:
    P08575
    Secondary Accessions:
    • A0A0A0MT22
    • A8K7W6
    • Q16614
    • Q9H0Y6
    • X6R433

    Protein attributes for PTPRC Gene

    Size:
    1306 amino acids
    Molecular mass:
    147486 Da
    Quaternary structure:
    • Binds GANAB and PRKCSH (By similarity). Interacts with SKAP1. Interacts with DPP4; the interaction is enhanced in a interleukin-12-dependent manner in activated lymphocytes. Interacts with human cytomegalovirus protein UL11.
    SequenceCaution:
    • Sequence=BAF84820.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA68269.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA68669.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PTPRC Gene

    Alternative splice isoforms for PTPRC Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PTPRC Gene

Protein Expression for PTPRC Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PTPRC Gene

  • Heavily N- and O-glycosylated.
  • Glycosylation at Asn529, posLast=497497, posLast=488488, Asn468, posLast=419419, posLast=378378, Asn335, posLast=284284, posLast=276276, Asn270, Asn260, posLast=240240, posLast=232232, Asn197, posLast=190190, Asn184, Asn95, Asn90, and Asn78
  • Ubiquitination at posLast=932932, posLast=715715, and Lys664
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PTPRC_HUMAN (339)

Other Protein References for PTPRC Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PTPRC Gene

Domains & Families for PTPRC Gene

Gene Families for PTPRC Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for PTPRC Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for PTPRC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08575

UniProtKB/Swiss-Prot:

PTPRC_HUMAN :
  • The first PTPase domain interacts with SKAP1.
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily.
Domain:
  • The first PTPase domain interacts with SKAP1.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Receptor class 1/6 subfamily.
genes like me logo Genes that share domains with PTPRC: view

Function for PTPRC Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for PTPRC Gene

UniProtKB/Swiss-Prot 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 (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
GENATLAS Biochemistry:
protein tyrosine phosphatase,receptor-type I,C polypeptide

Enzyme Numbers (IUBMB) for PTPRC Gene

Phenotypes From GWAS Catalog for PTPRC Gene

Gene Ontology (GO) - Molecular Function for PTPRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity TAS --
GO:0005001 transmembrane receptor protein tyrosine phosphatase activity TAS 2845400
GO:0005515 protein binding IPI,IEA 1970422
GO:0016791 phosphatase activity IEA --
GO:0019901 protein kinase binding IPI 14625311
genes like me logo Genes that share ontologies with PTPRC: view
genes like me logo Genes that share phenotypes with PTPRC: view

Human Phenotype Ontology for PTPRC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPRC Gene

MGI Knock Outs for PTPRC:

Animal Model Products

Clone Products

  • Addgene plasmids for PTPRC

No data available for Transcription Factor Targets and HOMER Transcription for PTPRC Gene

Localization for PTPRC Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPRC Gene

Membrane; Single-pass type I membrane protein. Membrane raft. Note=Colocalized with DPP4 in membrane rafts.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PTPRC gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
nucleus 3
peroxisome 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PTPRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0005925 focal adhesion ISS --
GO:0009897 external side of plasma membrane IDA 17213291
GO:0009986 cell surface IDA 24337748
genes like me logo Genes that share ontologies with PTPRC: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PTPRC Gene

Pathways & Interactions for PTPRC Gene

genes like me logo Genes that share pathways with PTPRC: view

SIGNOR curated interactions for PTPRC Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PTPRC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001915 negative regulation of T cell mediated cytotoxicity ISS --
GO:0001960 negative regulation of cytokine-mediated signaling pathway ISS --
GO:0002244 hematopoietic progenitor cell differentiation IMP 21911094
GO:0002378 immunoglobulin biosynthetic process IMP 1793833
GO:0006469 negative regulation of protein kinase activity ISS --
genes like me logo Genes that share ontologies with PTPRC: view

Drugs & Compounds for PTPRC Gene

Products:

  1. Drug

(33) Drugs for PTPRC Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 521
Etanercept Approved, Investigational Pharma 413
Infliximab Approved Pharma 407
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(39) Additional Compounds for PTPRC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
 14265-44-2
genes like me logo Genes that share compounds with PTPRC: view

Transcripts for PTPRC Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for PTPRC Gene

(263) Selected AceView cDNA sequences:
(21) Additional mRNA sequences :
(7) REFSEQ mRNAs :
(17) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PTPRC Gene

Protein tyrosine phosphatase, receptor type, C:
Representative Sequences:

Clone Products

  • Addgene plasmids for PTPRC

Alternative Splicing Database (ASD) splice patterns (SP) for PTPRC Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^
SP1: - - - - - - -
SP2:
SP3:
SP4:
SP5: - - - - - -
SP6: - - -
SP7: - - - - -
SP8: - - - -
SP9: - -
SP10: - - - - - -
SP11: - -
SP12: - - -
SP13:
SP14:
SP15:
SP16:
SP17:

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b · 28c ^ 29a · 29b ^ 30a · 30b ^ 31a · 31b ^ 32a · 32b ^ 33a · 33b ^ 34a · 34b ^
SP1:
SP2: -
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13: -
SP14:
SP15:
SP16:
SP17:

Relevant External Links for PTPRC Gene

GeneLoc Exon Structure for
PTPRC
ECgene alternative splicing isoforms for
PTPRC

Expression for PTPRC Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PTPRC Gene

mRNA expression in normal human tissues for PTPRC Gene
mRNA expression by GTEx for PTPRC GenemRNA expression by BioGPS for PTPRC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTPRC Gene

This gene is overexpressed in Whole Blood (x30.3) and Spleen (x4.5).

Protein differential expression in normal tissues from HIPED for PTPRC Gene

This gene is overexpressed in Tlymphocyte (17.0), Lymph node (12.3), CD8 Tcells (6.9), and Monocytes (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PTPRC Gene



Protein tissue co-expression partners for PTPRC Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PTPRC Gene:

PTPRC

SOURCE GeneReport for Unigene cluster for PTPRC Gene:

Hs.654514

Evidence on tissue expression from TISSUES for PTPRC Gene

  • Blood(4.9)
  • Liver(4.6)
  • Bone marrow(4)
  • Spleen(3.9)
  • Lymph node(3.8)
  • Intestine(3.3)
  • Lung(3.3)
  • Heart(3.1)
  • Nervous system(2.9)
  • Muscle(2.8)
  • Skin(2.6)
  • Bone(2.4)
  • Eye(2.3)
  • Kidney(2.3)
  • Pancreas(2.3)
  • Stomach(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PTPRC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
Regions:
Head and neck:
  • ear
  • head
  • middle ear
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
General:
  • blood
  • bone marrow
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with PTPRC: view

No data available for mRNA Expression by UniProt/SwissProt for PTPRC Gene

Orthologs for PTPRC Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPRC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia PTPRC 34 33
  • 99.03 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia PTPRC 34 33
  • 79.77 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Ptprc 16 34 33
  • 74.86 (n)
cow
(Bos Taurus)
 Mammalia PTPRC 34 33
  • 74.32 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Ptprc 33
  • 74.22 (n)
oppossum
(Monodelphis domestica)
 Mammalia PTPRC 34
  • 60 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 9 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves PTPRC 34 33
  • 62.91 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia PTPRC 34
  • 52 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia ptprc 33
  • 60.57 (n)
African clawed frog
(Xenopus laevis)
 Amphibia ptprc-A-prov 33
zebrafish
(Danio rerio)
 Actinopterygii ptprc 34 33
  • 56.1 (n)
 OneToOne
Dr.12536 33
fruit fly
(Drosophila melanogaster)
 Insecta Ptp52F 35
  • 45 (a)
Ptp69D 34 35
  • 20 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea F36H12.10 35
  • 38 (a)
C02B10.6 35
  • 38 (a)
F47B3.7 35
  • 36 (a)
T27A3.5 35
  • 35 (a)
ZK616.7 35
  • 34 (a)
C17H12.3 35
  • 34 (a)
F47B3.1 35
  • 34 (a)
F47B3.6 35
  • 34 (a)
T22C1.8 35
  • 33 (a)
M04G7.2 35
  • 33 (a)
C55B7.3 35
  • 30 (a)
clr-1 34
  • 19 (a)
 OneToOne
Species where no ortholog for PTPRC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTPRC Gene

ENSEMBL:
Gene Tree for PTPRC (if available)
TreeFam:
Gene Tree for PTPRC (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PTPRC: view image

Paralogs for PTPRC Gene

Paralogs for PTPRC Gene

(8) SIMAP similar genes for PTPRC Gene using alignment to 18 proteins:

  • PTPRC_HUMAN
  • E9PC28_HUMAN
  • E9PKH0_HUMAN
  • M3ZCP1_HUMAN
  • M9MMK8_HUMAN
  • M9MMK9_HUMAN
  • M9MML3_HUMAN
  • M9MML4_HUMAN
  • Q0VAE8_HUMAN
  • Q6LDN6_HUMAN
  • Q6PJK7_HUMAN
  • Q6Q1P2_HUMAN
  • Q6QIM3_HUMAN
  • Q6QIN1_HUMAN
  • Q6QIN9_HUMAN
  • Q6QIQ5_HUMAN
  • Q6QIR3_HUMAN
  • Q9H3X6_HUMAN
genes like me logo Genes that share paralogs with PTPRC: view

Variants for PTPRC Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for PTPRC Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1058191 benign, not specified, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 198,756,040(+) T/C coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs112713919 likely-benign, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 198,728,356(+) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs12136658 benign, not specified, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 198,722,466(+) T/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs140403368 uncertain-significance, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 198,716,687(+) G/A coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs142096878 likely-benign, not specified, Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 198,754,266(+) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PTPRC Gene

Variant ID Type Subtype PubMed ID
dgv761n54 CNV loss 21841781
esv2721206 CNV deletion 23290073
esv3438200 CNV insertion 20981092
esv3588521 CNV loss 21293372
esv3588533 CNV gain 21293372
nsv1002889 CNV loss 25217958
nsv1003267 CNV gain 25217958
nsv1005876 CNV gain 25217958
nsv1159863 CNV duplication 26073780
nsv819406 CNV loss 19587683
nsv952636 CNV duplication 24416366

Variation tolerance for PTPRC Gene

Residual Variation Intolerance Score: 8.73% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.76; 33.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PTPRC Gene

Human Gene Mutation Database (HGMD)
PTPRC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PTPRC

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPRC Gene

Disorders for PTPRC Gene

MalaCards: The human disease database

(90) MalaCards diseases for PTPRC Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
  • scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
hepatitis c virus
  • hepatitis c virus, susceptibility to
lymphoblastic lymphoma
  • lymphoma, lymphoblastic
myeloid sarcoma
  • chloroma
severe combined immunodeficiency
  • combined t and b cell inborn immunodeficiency
- elite association - COSMIC cancer census association via MalaCards
Search PTPRC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PTPRC_HUMAN
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID) [MIM:608971]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269 PubMed:11145714}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11101853}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for PTPRC

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PTPRC: view

No data available for Genatlas for PTPRC Gene

Publications for PTPRC Gene

  1. A point mutation in PTPRC is associated with the development of multiple sclerosis. (PMID: 11101853) Jacobsen M … Hemmer B (Nature genetics 2000) 3 4 22 44 58
  2. PTPRC (CD45) variation and disease association studied using single nucleotide polymorphism tagging. (PMID: 18312479) Hennig BJ … Tchilian E (Tissue antigens 2008) 3 22 44 58
  3. Protein tyrosine phosphatase receptor-type C exon 4 gene mutation distribution in an Italian multiple sclerosis population. (PMID: 12147336) Ballerini C … Vergelli M (Neuroscience letters 2002) 3 22 44 58
  4. PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients. (PMID: 12028593) Miterski B … Epplen JT (BMC medical genetics 2002) 3 22 44 58
  5. Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? (PMID: 11548742) Vorechovsky I … Beverley PC (Nature genetics 2001) 3 22 44 58

Products for PTPRC Gene