Disease	Score

Substances	Interaction	Organism	Category

Substances	Interaction	Organism	Category

The PTPN22 gene encodes a protein that belongs to the PTP (protein tyrosine phosphatases) family. They regulate signal transduction; the signals instruct the cell to grow and divide or to mature and take on specialized functions (R).

The PTPN22 protein is involved in the signaling of T cells; T cells identify foreign substances and defend the body against infection. Mutations of this gene can cause many different autoimmune disorders, including: Graves disease, rheumatoid arthritis, lupus, Addison disease, etc (R).

     autoimmune Addison disease Genetics Home Reference provides information about autoimmune Addison disease. Graves disease Genetics Home Reference provides information about Graves disease. idiopathic inflammatory myopathy Genetics Home Reference provides information about idiopathic inflammatory myopathy. juvenile idiopathic arthritis Genetics Home Reference provides information about juvenile idiopathic arthritis. rheumatoid arthritis Genetics Home Reference provides information about rheumatoid arthritis. systemic lupus erythematosus Genetics Home Reference provides information about systemic lupus erythematosus. systemic scleroderma Genetics Home Reference provides information about systemic scleroderma. type 1 diabetes Genetics Home Reference provides information about type 1 diabetes. vitiligo Studies have associated the R620W variation in the PTPN22 gene with an increased risk of vitiligo, an autoimmune condition that results in patchy changes in skin coloring (pigmentation). As with other autoimmune disorders, this variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control the immune system and prevent it from attacking its own tissues. While the pigment loss associated with vitiligo results from the immune system attacking pigment-producing cells (melanocytes) in the skin, it is unclear what specific circumstances trigger the immune system to do so. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified. autoimmune disorders Studies have associated a variation in the PTPN22 gene with an increased risk of several autoimmune disorders. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. These disorders include type 1 diabetes, rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. The PTPN22 gene variation associated with autoimmune disorders changes the protein building block (amino acid) arginine to the amino acid tryptophan at position 620 in the PTPN22 protein sequence, written as Arg620Trp or R620W. This variation likely affects the activity of the PTPN22 protein, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues.

     The PTPN22 gene provides instructions for making a protein that belongs to the PTP (protein tyrosine phosphatases) family. PTP proteins play a role in regulating a process called signal transduction. In signal transduction, the protein relays signals from outside the cell to the cell nucleus. These signals instruct the cell to grow and divide or to mature and take on specialized functions. The PTPN22 protein is involved in signaling that helps control the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection.

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

Condition	Change (log2fold)	Comparison	Species	Experimental variables	Experiment name

The following transcription factors affect gene expression:

• NF-kappaB
• PPAR-gamma1
• PPAR-gamma2
• NF-kappaB1

Tissue specificity:

Expressed in bone marrow, B and T-cells, PBMCs, natural killer cells, monocytes, dendritic cells and neutrophils (PubMed:15208781). Both isoform 1 and 4 are predominantly expressed in lymphoid tissues and cells. Isoform 1 is expressed in thymocytes and both mature B and T-cells.

Induction:

By muramyl-dipeptide and lipopolysaccharide.

Enzyme Regulation:

Down-regulated by phosphorylation.

Molecular Function:

• Kinase Binding
• Phosphatase Activity
• Protein Tyrosine Phosphatase Activity
• Sh3 Domain Binding
• Ubiquitin Protein Ligase Binding

Biological Processes:

• Autophagy
• Cellular Response To Muramyl Dipeptide
• Lipopolysaccharide-Mediated Signaling Pathway
• Negative Regulation Of Autophagy
• Negative Regulation Of Gene Expression
• Negative Regulation Of Interleukin-6 Secretion
• Negative Regulation Of Interleukin-8 Secretion
• Negative Regulation Of Jun Kinase Activity
• Negative Regulation Of Nucleotide-Binding Oligomerization Domain Containing 2 Signaling Pathway
• Negative Regulation Of P38mapk Cascade
• Negative Regulation Of T Cell Activation
• Negative Regulation Of T Cell Receptor Signaling Pathway
• Negative Regulation Of Tumor Necrosis Factor Production
• Phosphoanandamide Dephosphorylation
• Positive Regulation Of Erk1 And Erk2 Cascade
• Positive Regulation Of Gene Expression
• Positive Regulation Of Interferon-Gamma Secretion
• Positive Regulation Of Protein K63-Linked Ubiquitination
• Positive Regulation Of Toll-Like Receptor 3 Signaling Pathway
• Positive Regulation Of Toll-Like Receptor 4 Signaling Pathway
• Positive Regulation Of Type I Interferon Production
• Protein Dephosphorylation
• Regulation Of B Cell Receptor Signaling Pathway
• Regulation Of Innate Immune Response
• Regulation Of Natural Killer Cell Proliferation
• Regulation Of Nik/Nf-Kappab Signaling
• Response To Lipopolysaccharide
• T Cell Differentiation

*synonyms