LP207799-0
PTPN22 gene.c.1858C>T
Active
Descriptions
The PTPN22 (protein tyrosine phosphatase N22) gene encodes the protein tyrosine phosphatase Lyp. A single nucleotide polymorphism in the PTPN22 gene, c.1858>T, encodes products with different Csk binding affinities. The PTPN22 c.1858C>T variant has been associated with three different autoimmune disorders: type 1 diabetes, rheumatoid arthritis, and systemic lupus erythematosus. PMID: 15620463 Source: Regenstrief LOINC, PMID: 15620463
Protein tyrosine phosphatase, non-receptor type 22 (lymphoid), also known as PTPN22, is a protein that in humans is encoded by the PTPN22 gene.This gene can be expressed in different forms. PTPN22 affects the responsiveness of T and B cell receptors, and mutations are associated with increases or decreases in risks of autoimmune diseases. The common 1858T (rs2476601) Arg620Trp nonsynonymous single nucleotide polymorphism located in the PTPN22 gene has been associated with autoimmune disorders, including an increased risk of Type 1 Diabetes, rheumatoid arthritis, Systemic Lupus Erythematosus, Vitiligo and Graves' disease, but a decreased risk of Crohn's disease. A recent study suggests that the mutation does not, on a population basis, reduce life span. The mutation may be conserved in human evolution because it may provide a hyper-immune response to infectious disease. Source: LOINC partner 1
Basic Part Properties
- Part Name
- PTPN22 gene.c.1858C>T
- Part Display Name
- PTPN22 gene.c.1858C>T
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2016-02-25
- Construct for LOINC Short Name
- PTPN22 c.1858C>T
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP207799-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PTPN22 基因.c.1858C>T Synonyms: 蛋白酪氨酸磷酸酶, 非受体型 22; |
| es-ES | Spanish (Spain) | Gen PTPN22 c.1858C>T |
| it-IT | Italian (Italy) | PTPN22 gene.c.1858C>T |
| nl-NL | Dutch (Netherlands) | PTPN22-gen.c.1858C>T Synonyms: PTPN22 gen.c.1858C>T |
LOINC Copyright
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