PTPRC Chromosome 1

Protein tyrosine phosphatase receptor type C
49 variants 49 Health Risk

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What This Gene Does
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]
Gene Info
Gene Group
"CD molecules|Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type"
Locus Type
gene with protein product
Location
1q31.3-q32.1
Ensembl
ENSG00000081237
Associated Conditions (7)
Immunodeficiency 104
Hepatitis C virus
susceptibility to
Immunodeficiency 105
PTPRC-related disorder
Inborn genetic diseases
Severe combined immunodeficiency disease
Key Variants
RS114970039
Conflicting classifications of pathogenicity
Immunodeficiency 104, Hepatitis C virus, susceptibility to
Health Risk
RS116464756
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 105, PTPRC-related disorder
Health Risk
RS142941257
Conflicting classifications of pathogenicity
Immunodeficiency 104, PTPRC-related disorder, Immunodeficiency 104
Health Risk
RS144856406
Conflicting classifications of pathogenicity
Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
Health Risk
RS145357582
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS148331492
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 104
Health Risk
RS149488488
Conflicting classifications of pathogenicity
Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
Health Risk
RS149798940
Conflicting classifications of pathogenicity
Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 105
Health Risk
RS150672767
Conflicting classifications of pathogenicity
Immunodeficiency 104, PTPRC-related disorder, Immunodeficiency 104
Health Risk
RS191867796
Conflicting classifications of pathogenicity
Immunodeficiency 104, Immunodeficiency 105, Immunodeficiency 104
Health Risk
RS199673441
Conflicting classifications of pathogenicity
Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
Health Risk
RS199882367
Conflicting classifications of pathogenicity
Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
Health Risk
All Variants (49)
RSID Category Clinical Significance Conditions
RS114970039 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Hepatitis C virus, susceptibility to
RS116464756 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 105, PTPRC-related disorder
RS142941257 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, PTPRC-related disorder, Immunodeficiency 104
RS144856406 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS145357582 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS148331492 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS149488488 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS149798940 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 105
RS150672767 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, PTPRC-related disorder, Immunodeficiency 104
RS191867796 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 105, Immunodeficiency 104
RS199673441 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS199882367 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS201715157 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, PTPRC-related disorder, Immunodeficiency 104
RS545961977 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS574020110 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS61749266 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS764731559 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 105, PTPRC-related disorder
RS779106980 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS779568827 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Inborn genetic diseases, Immunodeficiency 104
RS137869655 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104, Immunodeficiency 105
RS1553243550 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104, Immunodeficiency 104
RS1665977328 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2102415377 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2102475830 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104, Immunodeficiency 104
RS2527386785 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527787867 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527801028 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527991012 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528037788 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528046958 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS745816899 Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS754092059 Health Risk Likely pathogenic Immunodeficiency 105, Immunodeficiency 105
RS1571865049 Health Risk Pathogenic Immunodeficiency 105, Immunodeficiency 105
RS1571880832 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1571880941 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1666230230 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2102393172 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 105, Immunodeficiency 104
RS2102445016 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527780456 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527818757 Health Risk Pathogenic Immunodeficiency 105, Immunodeficiency 105
RS2527937650 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527949922 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2527993395 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528046063 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2528049157 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS398122383 Health Risk Pathogenic Immunodeficiency 105, Immunodeficiency 105
RS776696394 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS779246448 Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS1654941272 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 104, Immunodeficiency 105, Immunodeficiency 104
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