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PTPN22
HPA
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  • PTPN22
PROTEIN SUMMARY GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

PTPN22
Synonyms Lyp, Lyp1, Lyp2, PTPN8
Gene descriptioni

Full gene name according to HGNC.

Protein tyrosine phosphatase non-receptor type 22
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Enzymes
Human disease related genes
Plasma proteins
Potential drug targets
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 1
Cytoband p13.2
Chromosome location (bp) 113813811 - 113871753
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

6
Ensembl ENSG00000134242 (version 109)
Entrez gene 26191
HGNC HGNC:9652
UniProt Q9Y2R2 (UniProt - Evidence at protein level)
neXtProt NX_Q9Y2R2
GeneCards PTPN22
Antibodypedia PTPN22 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Acts as a negative regulator of T-cell receptor (TCR) signaling by direct dephosphorylation of the Src family kinases LCK and FYN, ITAMs of the TCRz/CD3 complex, as well as ZAP70, VAV, VCP and other key signaling molecules 1, 2. Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating 'Tyr-394' residue 3. Dephosphorylates ZAP70 at its activating 'Tyr-493' residue 4. Dephosphorylates the immune system activator SKAP2 5. Positively regulates toll-like receptor (TLR)-induced type 1 interferon production 6. Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy 7. Acts as an activator of NLRP3 inflammasome assembly by mediating dephosphorylation of 'Tyr-861' of NLRP3 8. Dephosphorylates phospho-anandamide (p-AEA), an endocannabinoid to anandamide (also called N-arachidonoylethanolamide) (By similarity).... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Hydrolase, Protein phosphatase
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Autophagy, Immunity, Lipid metabolism
Gene summary (Entrez)i

Useful information about the gene from Entrez

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]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
PTPN22-201
ENSP00000352833
ENST00000359785
A0A0B4J1S7
[Direct mapping] Tyrosine-protein phosphatase non-receptor type 22
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Vascular diseases
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Allergies and autoimmune diseases
   Other immune system diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Kim et al 2014)
Show all
GO:0002230 [positive regulation of defense response to virus by host]
GO:0002685 [regulation of leukocyte migration]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0006470 [protein dephosphorylation]
GO:0009898 [cytoplasmic side of plasma membrane]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0017124 [SH3 domain binding]
GO:0019900 [kinase binding]
GO:0030217 [T cell differentiation]
GO:0032715 [negative regulation of interleukin-6 production]
GO:0032717 [negative regulation of interleukin-8 production]
GO:0032720 [negative regulation of tumor necrosis factor production]
GO:0032727 [positive regulation of interferon-alpha production]
GO:0032728 [positive regulation of interferon-beta production]
GO:0034141 [positive regulation of toll-like receptor 3 signaling pathway]
GO:0034145 [positive regulation of toll-like receptor 4 signaling pathway]
GO:0034157 [positive regulation of toll-like receptor 7 signaling pathway]
GO:0034165 [positive regulation of toll-like receptor 9 signaling pathway]
GO:0035644 [phosphoanandamide dephosphorylation]
GO:0042307 [positive regulation of protein import into nucleus]
GO:0050730 [regulation of peptidyl-tyrosine phosphorylation]
GO:0050852 [T cell receptor signaling pathway]
GO:0050856 [regulation of T cell receptor signaling pathway]
GO:0050868 [negative regulation of T cell activation]
GO:0070374 [positive regulation of ERK1 and ERK2 cascade]
GO:0070433 [negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway]
GO:0071225 [cellular response to muramyl dipeptide]
GO:0071663 [positive regulation of granzyme B production]
GO:1900227 [positive regulation of NLRP3 inflammasome complex assembly]
GO:1901222 [regulation of NIK/NF-kappaB signaling]
GO:1902523 [positive regulation of protein K63-linked ubiquitination]
GO:1903169 [regulation of calcium ion transmembrane transport]
GO:1903753 [negative regulation of p38MAPK cascade]
GO:1990782 [protein tyrosine kinase binding]
GO:2000566 [positive regulation of CD8-positive, alpha-beta T cell proliferation]
Show all
807 aa
91.7 kDa
No 0
PTPN22-202
ENSP00000388229
ENST00000420377
E9PMT0
[Direct mapping] Tyrosine-protein phosphatase non-receptor type 22
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Vascular diseases
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Allergies and autoimmune diseases
   Other immune system diseases
   Skin diseases
   Skin and soft tissue diseases
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0006470 [protein dephosphorylation]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0050856 [regulation of T cell receptor signaling pathway]
Show all
795 aa
90.3 kDa
No 0
PTPN22-203
ENSP00000433141
ENST00000460620
Q9Y2R2
[Direct mapping] Tyrosine-protein phosphatase non-receptor type 22
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   Phobius predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Potential drug targets
Human disease related genes
   Cardiovascular diseases
   Vascular diseases
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Allergies and autoimmune diseases
   Other immune system diseases
   Skin diseases
   Skin and soft tissue diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0002230 [positive regulation of defense response to virus by host]
GO:0002376 [immune system process]
GO:0004721 [phosphoprotein phosphatase activity]
GO:0004725 [protein tyrosine phosphatase activity]
GO:0004726 [non-membrane spanning protein tyrosine phosphatase activity]
GO:0005515 [protein binding]
GO:0005634 [nucleus]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0006470 [protein dephosphorylation]
GO:0006629 [lipid metabolic process]
GO:0006914 [autophagy]
GO:0009898 [cytoplasmic side of plasma membrane]
GO:0010507 [negative regulation of autophagy]
GO:0010628 [positive regulation of gene expression]
GO:0010629 [negative regulation of gene expression]
GO:0016311 [dephosphorylation]
GO:0016787 [hydrolase activity]
GO:0016791 [phosphatase activity]
GO:0017124 [SH3 domain binding]
GO:0019900 [kinase binding]
GO:0030217 [T cell differentiation]
GO:0031625 [ubiquitin protein ligase binding]
GO:0031663 [lipopolysaccharide-mediated signaling pathway]
GO:0032481 [positive regulation of type I interferon production]
GO:0032496 [response to lipopolysaccharide]
GO:0032715 [negative regulation of interleukin-6 production]
GO:0032717 [negative regulation of interleukin-8 production]
GO:0032720 [negative regulation of tumor necrosis factor production]
GO:0032729 [positive regulation of interferon-gamma production]
GO:0032817 [regulation of natural killer cell proliferation]
GO:0034141 [positive regulation of toll-like receptor 3 signaling pathway]
GO:0034145 [positive regulation of toll-like receptor 4 signaling pathway]
GO:0034157 [positive regulation of toll-like receptor 7 signaling pathway]
GO:0034165 [positive regulation of toll-like receptor 9 signaling pathway]
GO:0035335 [peptidyl-tyrosine dephosphorylation]
GO:0035644 [phosphoanandamide dephosphorylation]
GO:0043508 [negative regulation of JUN kinase activity]
GO:0045088 [regulation of innate immune response]
GO:0048471 [perinuclear region of cytoplasm]
GO:0050852 [T cell receptor signaling pathway]
GO:0050855 [regulation of B cell receptor signaling pathway]
GO:0050856 [regulation of T cell receptor signaling pathway]
GO:0050860 [negative regulation of T cell receptor signaling pathway]
GO:0050868 [negative regulation of T cell activation]
GO:0070374 [positive regulation of ERK1 and ERK2 cascade]
GO:0070433 [negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway]
GO:0071225 [cellular response to muramyl dipeptide]
GO:0071663 [positive regulation of granzyme B production]
GO:1900227 [positive regulation of NLRP3 inflammasome complex assembly]
GO:1901222 [regulation of NIK/NF-kappaB signaling]
GO:1902523 [positive regulation of protein K63-linked ubiquitination]
GO:1903753 [negative regulation of p38MAPK cascade]
GO:2000566 [positive regulation of CD8-positive, alpha-beta T cell proliferation]
Show all
179 aa
20.9 kDa
No 0
PTPN22-206
ENSP00000432674
ENST00000525799
A0A0A0MTD9
[Direct mapping] Tyrosine-protein phosphatase non-receptor type 22
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Vascular diseases
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Allergies and autoimmune diseases
   Other immune system diseases
   Skin diseases
   Skin and soft tissue diseases
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0006470 [protein dephosphorylation]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
Show all
668 aa
75.5 kDa
No 0
PTPN22-207
ENSP00000435176
ENST00000528414
A0A0A0MTE6
[Direct mapping] Tyrosine-protein phosphatase non-receptor type 22
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Vascular diseases
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Allergies and autoimmune diseases
   Other immune system diseases
   Skin diseases
   Skin and soft tissue diseases
Protein evidence (Kim et al 2014)
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0006470 [protein dephosphorylation]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
Show all
752 aa
85.2 kDa
No 0
PTPN22-211
ENSP00000439372
ENST00000538253
F5H2S8
[Direct mapping] Tyrosine-protein phosphatase non-receptor type 22
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Cardiovascular diseases
   Vascular diseases
   Endocrine and metabolic diseases
   Diabetes
   Immune system diseases
   Allergies and autoimmune diseases
   Other immune system diseases
   Skin diseases
   Skin and soft tissue diseases
Show all
GO:0004725 [protein tyrosine phosphatase activity]
GO:0006470 [protein dephosphorylation]
GO:0016311 [dephosphorylation]
GO:0016791 [phosphatase activity]
GO:0050856 [regulation of T cell receptor signaling pathway]
Show all
783 aa
88.9 kDa
No 0

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