Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
PTPRC

PTPRC

The information on this page was automatically extracted from online scientific databases.

What is the official name of the PTPRC gene?

The official name of this gene is “protein tyrosine phosphatase, receptor type, C.”

PTPRC is the gene's official symbol. The PTPRC gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the PTPRC gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the PTPRC gene related to health conditions?

Genetics Home Reference provides information about rheumatoid arthritis, which is associated with changes in the PTPRC gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the PTPRC gene's known or predicted involvement in human disease.

Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (T(-)B(+)NK(+) SCID): 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. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PTPRC gene.
  • Hepatitis c virus, susceptibility to
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the PTPRC gene and its association with health conditions.
OMIM
Number
Title

Where is the PTPRC gene located?

Cytogenetic Location: 1q31-q32

Molecular Location on chromosome 1: base pairs 198,638,967 to 198,757,475

The PTPRC gene is located on the long (q) arm of chromosome 1 between positions 31 and 32.

The PTPRC gene is located on the long (q) arm of chromosome 1 between positions 31 and 32.

More precisely, the PTPRC gene is located from base pair 198,638,967 to base pair 198,757,475 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about PTPRC?

You and your healthcare professional may find the following resources about PTPRC helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PTPRC gene or gene products?

  • B220
  • CD45
  • CD45R
  • GP180
  • LCA
  • L-CA
  • LY5
  • T200

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding PTPRC?

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: December 16, 2014