PTPN22
PTPN22 Gene Summary
This gene encodes of member of the non-receptor class 4 subfamily of the protein-tyrosine phosphatase family. The encoded protein is a lymphoid-specific intracellular phosphatase that associates with the molecular adapter protein CBL and may be involved in regulating CBL function in the T-cell receptor signaling pathway. Mutations in this gene may be associated with a range of autoimmune disorders including Type 1 Diabetes, rheumatoid arthritis, systemic lupus erythematosus and Graves' disease. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Mar 2009]
Details
| Type | Protein Coding |
| Official Symbol | PTPN22 |
| Official Name | protein tyrosine phosphatase non-receptor type 22 [Source:HGNC Symbol;Acc:HGNC:9652] |
| Ensembl ID | ENSG00000134242 |
| Bio databases IDs | |
| Aliases | protein tyrosine phosphatase non-receptor type 22 |
| Synonyms | 70zpep,LYP,LYP1,PEP,protein tyrosine phosphatase non-receptor type 22,protein tyrosine phosphatase, non-receptor type 22,protein tyrosine phosphatase, non-receptor type 22 (lymphoid),Protein tyrosine phosphatase non-receptor type 8,PTPN8 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- protein kinase binding
- protein-tyrosine-phoshatase
- catalytic domain
- Protein tyrosine phosphatase, catalytic domain
- PTP_DSP_cys
- protein binding
- proline rich domain
- Protein tyrosine phosphatase, catalytic domain motif
- SH3-domain binding
- Sh3 domain binding motif
- Protein tyrosine phosphatase, catalytic domain, undefined specificity
- Protein-tyrosine phosphatase
- kinase binding
- phosphatase
Pathways
Biological processes and signaling networks where the PTPN22 gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- PRKCD
- GRB2
- LZTS2
- MIB1
- CSK
- CBL
- CD247
- PTPN22
- c-Cbl
- KIF7
disease
- non-insulin-dependent diabetes mellitus
- endometriosis
- chronic lymphocytic leukemia
- neoplasia
- epithelial cancer
- Crohn disease
- susceptibility to rheumatoid arthritis
- rheumatoid arthritis
- vitiligo
- late-onset myasthenia gravis
regulated by
- PKC
- BCR (complex)
- IgE
- lipopolysaccharide
- dexamethasone
- OVALBUMIN
- FOXP3
- Immunoglobulin
- MYB
- CD3 (complex)
regulates
- IL10
- reactive oxygen species
- CCL17
- Ca2+
- insulin
- TNF
- CXCL8
- AKT
- IL6
- IL12 (family)
role in cell
- phosphorylation in
- expression in
- apoptosis
- transcription in
- proliferation
- production in
- differentiation
- signaling in
- growth
- formation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- soluble fraction
- membrane fraction
- perinuclear region
- Nucleus
- Plasma Membrane
- cytosol
- cytoplasmic face of plasma membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the PTPN22 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- negative regulation of JUN kinase activity
- autophagy
- positive regulation of interferon-gamma production
- regulation of B cell receptor signaling pathway
- T cell receptor signaling pathway
- negative regulation of tumor necrosis factor production
- 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
- positive regulation of NLRP3 inflammasome complex assembly
- negative regulation of interleukin-6 production
- T cell differentiation
- negative regulation of gene expression
- negative regulation of T cell receptor signaling pathway
- negative regulation of interleukin-8 production
- positive regulation of gene expression
- negative regulation of autophagy
- lipid metabolic process
- regulation of innate immune response
- positive regulation of ERK1 and ERK2 cascade
- regulation of natural killer cell proliferation
- lipopolysaccharide-mediated signaling pathway
- response to lipopolysaccharide
- negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway
- cellular response to muramyl dipeptide
- negative regulation of T cell activation
- phosphoanandamide dephosphorylation
CELLULAR COMPONENT
Where in the cell the gene product is active
- nucleus
- perinuclear region of cytoplasm
- cytoplasm
- cytosol
- internal side of plasma membrane
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- ubiquitin protein ligase binding
- non-membrane spanning protein tyrosine phosphatase activity
- protein tyrosine phosphatase activity
- phosphatase activity
- SH3 domain binding
- kinase binding