Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PTPN22 Gene

Aliases for PTPN22 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid) 2 3
  • PTPN8 3 4 6
  • PEP 3 4 6
  • LYP 3 4 6
  • Hematopoietic Cell Protein-Tyrosine Phosphatase 70Z-PEP 3 4
  • Protein Tyrosine Phosphatase, Non-Receptor Type 8 2 3
  • PEST-Domain Phosphatase 3 4
  • Lymphoid Phosphatase 3 4
  • Tyrosine-Protein Phosphatase Non-Receptor Type 22 3
  • Lymphoid-Specific Protein Tyrosine Phosphatase 3
  • EC 3.1.3.48 4
  • LYP1 3
  • LYP2 3

External Ids for PTPN22 Gene

Previous HGNC Symbols for PTPN22 Gene

  • PTPN8

Previous GeneCards Identifiers for PTPN22 Gene

  • GC01M114770
  • GC01M113238
  • GC01M113456
  • GC01M113655
  • GC01M114003
  • GC01M114157
  • GC01M114356
  • GC01M112214

Summaries for PTPN22 Gene

Entrez Gene Summary for PTPN22 Gene

  • 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]

GeneCards Summary for PTPN22 Gene

PTPN22 (Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid)) is a Protein Coding gene. Diseases associated with PTPN22 include systemic lupus erythematosus and vogt-koyanagi-harada disease. Among its related pathways are PAK Pathway and CD28 co-stimulation. GO annotations related to this gene include SH3 domain binding and kinase binding. An important paralog of this gene is PTPN6.

UniProtKB/Swiss-Prot for PTPN22 Gene

  • Acts as 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 (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating Tyr-394 residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating Tyr-493 residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106).

Gene Wiki entry for PTPN22 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PTPN22 Gene

Genomics for PTPN22 Gene

Regulatory Elements for PTPN22 Gene

Genomic Location for PTPN22 Gene

Start:
113,813,811 bp from pter
End:
113,871,759 bp from pter
Size:
57,949 bases
Orientation:
Minus strand

Genomic View for PTPN22 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PTPN22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PTPN22 Gene

Proteins for PTPN22 Gene

  • Protein details for PTPN22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2R2-PTN22_HUMAN
    Recommended name:
    Tyrosine-protein phosphatase non-receptor type 22
    Protein Accession:
    Q9Y2R2
    Secondary Accessions:
    • A0N0K6
    • B1ALC8
    • D4NZ71
    • E9PLD8
    • E9PPI1
    • O95063
    • O95064
    • Q6IPX8
    • Q8WVM1

    Protein attributes for PTPN22 Gene

    Size:
    807 amino acids
    Molecular mass:
    91705 Da
    Quaternary structure:
    • Interacts with CSK (PubMed:15208781). Interacts with LPXN (By similarity). Interacts with CBL (PubMed:10068674). Interacts with TRAF3 (via MATH domain); the interaction promotes TRAF3 polyubiquitination (PubMed:23871208).

    Three dimensional structures from OCA and Proteopedia for PTPN22 Gene

    Alternative splice isoforms for PTPN22 Gene

neXtProt entry for PTPN22 Gene

Proteomics data for PTPN22 Gene at MOPED

Post-translational modifications for PTPN22 Gene

  • Phosphorylation on Ser-35 by PKC/PRKCD abrogates its ability to dephosphorylate and inactivate the SRC family kinases.
  • Ubiquitination at Lys315, Lys411, Lys429, Lys448, and Lys506
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PTPN22 (PTPN22)

No data available for DME Specific Peptides for PTPN22 Gene

Domains for PTPN22 Gene

Gene Families for PTPN22 Gene

HGNC:
  • PTPN :Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor

Suggested Antigen Peptide Sequences for PTPN22 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2R2

UniProtKB/Swiss-Prot:

PTN22_HUMAN :
  • Q9Y2R2
Domain:
  • Contains 1 tyrosine-protein phosphatase domain.
Family:
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.
genes like me logo Genes that share domains with PTPN22: view

Function for PTPN22 Gene

Molecular function for PTPN22 Gene

GENATLAS Biochemistry: Protein tyrosine-phosphatase non receptor type 22,lymphoid-specific,involved in regulation of the function of protooncogene CBL
UniProtKB/Swiss-Prot CatalyticActivity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation: Down-regulated by phosphorylation
UniProtKB/Swiss-Prot Function: Acts as 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 (PubMed:16461343, PubMed:18056643). Associates with and probably dephosphorylates CBL. Dephosphorylates LCK at its activating Tyr-394 residue (PubMed:21719704). Dephosphorylates ZAP70 at its activating Tyr-493 residue (PubMed:16461343). Dephosphorylates the immune system activator SKAP2 (PubMed:21719704). Positively regulates toll-like receptor (TLR)-induced type 1 interferon production (PubMed:23871208). Promotes host antiviral responses mediated by type 1 interferon (By similarity). Regulates NOD2-induced pro-inflammatory cytokine secretion and autophagy (PubMed:23991106).
UniProtKB/Swiss-Prot Induction: By muramyl-dipeptide and lipopolysaccharide.

Enzyme Numbers (IUBMB) for PTPN22 Gene

Gene Ontology (GO) - Molecular Function for PTPN22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004725 protein tyrosine phosphatase activity IDA 10068674
GO:0005515 protein binding IPI 10068674
GO:0016791 phosphatase activity --
GO:0017124 SH3 domain binding ISS --
GO:0019900 kinase binding ISS --
genes like me logo Genes that share ontologies with PTPN22: view
genes like me logo Genes that share phenotypes with PTPN22: view

Animal Models for PTPN22 Gene

MGI Knock Outs for PTPN22:

Animal Model Products

CRISPR Products

miRNA for PTPN22 Gene

miRTarBase miRNAs that target PTPN22

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTPN22

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for PTPN22 Gene

Localization for PTPN22 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PTPN22 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PTPN22 Gene COMPARTMENTS Subcellular localization image for PTPN22 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytosol 2
cytoskeleton 1
extracellular 1

Gene Ontology (GO) - Cellular Components for PTPN22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10940933
GO:0005737 cytoplasm TAS 20401454
GO:0009898 cytoplasmic side of plasma membrane IDA 10940933
GO:0048471 perinuclear region of cytoplasm IDA 10068674
genes like me logo Genes that share ontologies with PTPN22: view

Pathways for PTPN22 Gene

genes like me logo Genes that share pathways with PTPN22: view

Pathways by source for PTPN22 Gene

2 Qiagen pathways for PTPN22 Gene
1 Cell Signaling Technology pathway for PTPN22 Gene
1 GeneGo (Thomson Reuters) pathway for PTPN22 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for PTPN22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006470 protein dephosphorylation TAS 21044313
GO:0006914 autophagy IEA --
GO:0016311 dephosphorylation --
GO:0030217 T cell differentiation ISS --
GO:0032817 regulation of natural killer cell proliferation IDA 20522204
genes like me logo Genes that share ontologies with PTPN22: view

Compounds for PTPN22 Gene

(2) HMDB Compounds for PTPN22 Gene

Compound Synonyms Cas Number PubMed IDs
Phosphate
  • NFB Orthophosphate
14265-44-2
Water
  • Dihydrogen oxide
7732-18-5

(3) Novoseek inferred chemical compound relationships for PTPN22 Gene

Compound -log(P) Hits PubMed IDs
tyrosine 77.5 96
arginine 0 2
glutamate 0 1
genes like me logo Genes that share compounds with PTPN22: view

Transcripts for PTPN22 Gene

Unigene Clusters for PTPN22 Gene

Protein tyrosine phosphatase, non-receptor type 22 (lymphoid):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PTPN22

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PTPN22 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22
SP1: - - - -
SP2: - -
SP3: -
SP4: - - - - - - - - - - - - - - -
SP5:

Relevant External Links for PTPN22 Gene

GeneLoc Exon Structure for
PTPN22
ECgene alternative splicing isoforms for
PTPN22

Expression for PTPN22 Gene

mRNA expression in normal human tissues for PTPN22 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PTPN22 Gene

This gene is overexpressed in Whole Blood (13.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for PTPN22 Gene

SOURCE GeneReport for Unigene cluster for PTPN22 Gene Hs.535276

mRNA Expression by UniProt/SwissProt for PTPN22 Gene

Q9Y2R2-PTN22_HUMAN
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.
genes like me logo Genes that share expressions with PTPN22: view

In Situ Assay Products

Orthologs for PTPN22 Gene

This gene was present in the common ancestor of animals.

Orthologs for PTPN22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PTPN22 35
  • 99.79 (n)
  • 99.63 (a)
PTPN22 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PTPN22 35
  • 86.65 (n)
  • 78.11 (a)
PTPN22 36
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PTPN22 35
  • 86.8 (n)
  • 78.95 (a)
PTPN22 36
  • 78 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ptpn22 35
  • 79.95 (n)
  • 71.8 (a)
Ptpn22 16
Ptpn22 36
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PTPN22 36
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PTPN22 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ptpn22 35
  • 78.65 (n)
  • 69.91 (a)
chicken
(Gallus gallus)
Aves PTPN22 35
  • 59.5 (n)
  • 53.46 (a)
PTPN22 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PTPN22 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ptpn22 35
  • 54.03 (n)
  • 45.39 (a)
zebrafish
(Danio rerio)
Actinopterygii ptpn22 36
  • 30 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y41D4A.5 36
  • 25 (a)
OneToMany
ZK616.7 37
  • 33 (a)
Y41D4A.5 37
  • 31 (a)
T22C1.8 37
  • 34 (a)
M04G7.2 37
  • 31 (a)
Species with no ortholog for PTPN22:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PTPN22 Gene

ENSEMBL:
Gene Tree for PTPN22 (if available)
TreeFam:
Gene Tree for PTPN22 (if available)

Paralogs for PTPN22 Gene

genes like me logo Genes that share paralogs with PTPN22: view

Variants for PTPN22 Gene

Sequence variations from dbSNP and Humsavar for PTPN22 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
VAR_022605 -

Structural Variations from Database of Genomic Variants (DGV) for PTPN22 Gene

Variant ID Type Subtype PubMed ID
esv23869 CNV Loss 19812545
nsv831093 CNV Loss 17160897

Relevant External Links for PTPN22 Gene

HapMap Linkage Disequilibrium report
PTPN22
Human Gene Mutation Database (HGMD)
PTPN22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PTPN22 Gene

Disorders for PTPN22 Gene

(3) OMIM Diseases for PTPN22 Gene (600716)

UniProtKB/Swiss-Prot

PTN22_HUMAN
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. {ECO:0000269 PubMed:15273934}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Diabetes mellitus, insulin-dependent (IDDM) [MIM:222100]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269 PubMed:15004560}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Rheumatoid arthritis (RA) [MIM:180300]: An inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. {ECO:0000269 PubMed:15208781}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Vitiligo (VTLG) [MIM:193200]: A pigmentary disorder of the skin and mucous membranes. It is characterized by circumscribed depigmented macules and patches, commonly on extensor aspects of extremities, on the face or neck and in skin folds. Vitiligo is a progressive disorder in which some or all of the melanocytes in the affected skin are selectively destroyed. It is a multifactorial disorder with a complex etiology probably including autoimmune mechanisms, and is associated with an elevated risk of other autoimmune diseases. {ECO:0000269 PubMed:16015369}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(19) Novoseek inferred disease relationships for PTPN22 Gene

Disease -log(P) Hits PubMed IDs
autoimmune diseases 82.8 66
autoimmune thyroid disease 81.6 4
autoimmunity 79.4 30
hashimotos thyroiditis 76.3 2
addisons disease 75.9 6

Relevant External Links for PTPN22

Genetic Association Database (GAD)
PTPN22
Human Genome Epidemiology (HuGE) Navigator
PTPN22
genes like me logo Genes that share disorders with PTPN22: view

Publications for PTPN22 Gene

  1. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PMID: 10068674) Cohen S. … Roifman C.M. (Blood 1999) 2 3 4 23
  2. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. (PMID: 15208781) Begovich A.B. … Gregersen P.K. (Am. J. Hum. Genet. 2004) 3 4 23 48
  3. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. (PMID: 15531553) Velaga M.R. … Pearce S.H. (J. Clin. Endocrinol. Metab. 2004) 3 4 23 48
  4. A single-nucleotide polymorphism in the gene encoding lymphoid protein tyrosine phosphatase (PTPN22) confers susceptibility to generalised vitiligo. (PMID: 16015369) CantA^n I. … Kemp E.H. (Genes Immun. 2005) 3 4 23 48
  5. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the association of PDCD1. (PMID: 16052172) Reddy M.V. … AlarcA^n-Riquelme M.E. (Genes Immun. 2005) 3 23 48

Products for PTPN22 Gene

Sources for PTPN22 Gene

Back to Top

Content