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Aliases for PTPN22 Gene

Aliases for PTPN22 Gene

  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 2 3
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 (Lymphoid) 2 3 5
  • Hematopoietic Cell Protein-Tyrosine Phosphatase 70Z-PEP 3 4
  • Protein Tyrosine Phosphatase, Non-Receptor Type 8 2 3
  • PEST-Domain Phosphatase 3 4
  • PTPN8 3 4
  • PEP 3 4
  • LYP 3 4
  • Lymphoid-Specific Protein Tyrosine Phosphatase 3
  • Lymphoid Phosphatase 4
  • 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) is a Protein Coding gene. Diseases associated with PTPN22 include rheumatoid arthritis and systemic lupus erythematosus. Among its related pathways are PAK Pathway and CTLA4 Signaling. GO annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is PTPRO.

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

Promoters for PTPN22 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PTPN22 on UCSC Golden Path with GeneCards custom track

Genomic Location for PTPN22 Gene

Chromosome:
1
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

Genes around PTPN22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PTPN22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 315, Lys 411, Lys 448, and Lys 506
  • 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 & Families for PTPN22 Gene

Gene Families for PTPN22 Gene

Suggested Antigen Peptide Sequences for PTPN22 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y2R2

UniProtKB/Swiss-Prot:

PTN22_HUMAN :
  • Contains 1 tyrosine-protein phosphatase domain.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class 4 subfamily.
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:0017124 SH3 domain binding IEA,ISS --
genes like me logo Genes that share ontologies with PTPN22: view
genes like me logo Genes that share phenotypes with PTPN22: view

Human Phenotype Ontology for PTPN22 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PTPN22 Gene

MGI Knock Outs for PTPN22:

Animal Model Products

CRISPR Products

miRNA for PTPN22 Gene

miRTarBase miRNAs that target PTPN22

No data available for Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for PTPN22 Gene

Pathways & Interactions for PTPN22 Gene

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

Pathways by source for PTPN22 Gene

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

SIGNOR curated interactions for PTPN22 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for PTPN22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002685 regulation of leukocyte migration IEA --
GO:0006470 protein dephosphorylation IEA,TAS 21044313
GO:0006914 autophagy IEA --
GO:0010507 negative regulation of autophagy IMP 23991106
GO:0030217 T cell differentiation IEA,ISS --
genes like me logo Genes that share ontologies with PTPN22: view

Drugs & Compounds for PTPN22 Gene

(2) Drugs for PTPN22 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PTPN22 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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 differential expression in normal tissues according to GTEx for PTPN22 Gene

This gene is overexpressed in Whole Blood (x13.5).

Protein differential expression in normal tissues from HIPED for PTPN22 Gene

This gene is overexpressed in CD8 Tcells (48.3) and Spleen (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with PTPN22: view

Protein tissue co-expression partners for PTPN22 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PTPN22 Gene

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 36
  • 77 (a)
OneToOne
PTPN22 35
  • 86.65 (n)
  • 78.11 (a)
dog
(Canis familiaris)
Mammalia PTPN22 36
  • 78 (a)
OneToOne
PTPN22 35
  • 86.8 (n)
  • 78.95 (a)
mouse
(Mus musculus)
Mammalia Ptpn22 16
Ptpn22 36
  • 71 (a)
OneToOne
Ptpn22 35
  • 79.95 (n)
  • 71.8 (a)
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 36
  • 51 (a)
OneToOne
PTPN22 35
  • 59.5 (n)
  • 53.46 (a)
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

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
VAR_072631 -
VAR_072630 -
VAR_072629 -
VAR_022605 Vitiligo (VTLG), Systemic lupus erythematosus (SLE), Rheumatoid arthritis (RA), Diabetes mellitus, insulin-dependent (IDDM)

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

Variation tolerance for PTPN22 Gene

Residual Variation Intolerance Score: 86.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.56; 55.89% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(34) MalaCards diseases for PTPN22 Gene - From: OMIM, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for PTPN22

Genetic Association Database (GAD)
PTPN22
Human Genome Epidemiology (HuGE) Navigator
PTPN22
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PTPN22
genes like me logo Genes that share disorders with PTPN22: view

No data available for Genatlas for PTPN22 Gene

Publications for PTPN22 Gene

  1. 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 67
  2. Cloning and characterization of a lymphoid-specific, inducible human protein tyrosine phosphatase, Lyp. (PMID: 10068674) Cohen S. … Roifman C.M. (Blood 1999) 2 3 23
  3. Lymphoid tyrosine phosphatase and autoimmunity: human genetics rediscovers tyrosine phosphatases. (PMID: 20204370) Stanford S.M. … Bottini N. (Semin Immunopathol 2010) 3 23
  4. Human leukocyte antigen (DR1)-DQB1*0501 and (DR15)-DQB1*0602 haplotypes are associated with humoral responses to early food allergens in children. (PMID: 20016199) Savilahti E.M. … Savilahti E. (Int. Arch. Allergy Immunol. 2010) 3 23
  5. The protein tyrosine phosphatase, non-receptor type 22 R620W polymorphism does not confer susceptibility to psoriasis in the genetic homogeneous population of Crete. (PMID: 20039785) Zervou M.I. … Krueger-Krasagakis S. (Genet Test Mol Biomarkers 2010) 3 23

Products for PTPN22 Gene

Sources for PTPN22 Gene

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