PTPRC protein tyrosine phosphatase receptor type C
Gene ID: 5788, updated on 14-Nov-2024Gene type: protein coding
Also known as: LCA; LY5; B220; CD45; L-CA; T200; CD45R; GP180; IMD105
- See all available tests in GTR for this gene
- Go to complete Gene record for PTPRC
- Go to Variation Viewer for PTPRC variants
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 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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis. GeneReviews: Not available | |
Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
Immunodeficiency 105 | not available |
Genomic context
- Location:
- 1q31.3-q32.1
- Sequence:
- Chromosome: 1; NC_000001.11 (198638713..198757476)
- Total number of exons:
- 37
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PTPRC variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PTPRC database
- PTPRCbase: Mutation registry for CD45 deficiency
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.