PTPN22 wt Allele

Preferred Label : PTPN22 wt Allele;

NCIt synonyms : Lyp2; LYP; Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid) wt Allele; Lyp1;

NCIt definition : Human PTPN22 wild-type allele is located within 1p13.3-p13.1 and is approximately 123 kb in length. This allele, which encodes tyrosine-protein phosphatase non-receptor type 22 protein, plays a role in the dephosphorylation of protein-tyrosine phosphates. Functional PTPN22 gene polymorphisms are associated with susceptibility to insulin-dependent diabetes mellitus, rheumatoid arthritis, systemic lupus erythematosus, and Hashimoto thyroiditis.;

GenBank Accession Number : NM_012411;

Details

Origin ID

C49524;

UMLS CUI

C1705386;

OMIM relation
- Protein tyrosine phosphatase, nonreceptor-type, 22 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Hashimoto Thyroiditis [NCIt concept]
- Rheumatoid Arthritis [NCIt concept]
- Systemic Lupus Erythematosus [NCIt concept]
- Type 1 Diabetes Mellitus [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p13.3-p13.1 [NCIt concept]
gene_is_element_in_pathway
- Phosphatidylinositol Signaling System Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Cell Growth [NCIt concept]
- Cell Proliferation [NCIt concept]
- Dephosphorylation [NCIt concept]
- Hydrolysis [NCIt concept]
- Protein Dephosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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