• Gene id: 26191

Gene Summary

• Gene Symbol: PTPN22   Gene   UCSC   Ensembl
• Aliases: LYP, LYP1, LYP2, PEP, PTPN22.5, PTPN22.6, PTPN8
• Gene name: protein tyrosine phosphatase non-receptor type 22
• Alternate names: tyrosine-protein phosphatase non-receptor type 22, PEST-domain phosphatase, hematopoietic cell protein-tyrosine phosphatase 70Z-PEP, lymphoid-specific protein tyrosine phosphatase, protein tyrosine phosphatase, non-receptor type 22 (lymphoid), protein tyrosine,
• Gene location: 1p13.2 (113871760: 113813810)     Exons: 24     NC_000001.11
• Gene summary(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 i
• OMIM: 600716

Protein Summary

• Protein general information: Q9Y2R2  
  • Name: Tyrosine protein phosphatase non receptor type 22 (EC 3.1.3.48) (Hematopoietic cell protein tyrosine phosphatase 70Z PEP) (Lymphoid phosphatase) (LyP) (PEST domain phosphatase) (PEP)
  • Length: 807  
  • Mass: 91705
  • Tissue specificity: Expressed in bone marrow, B and T-cells, PBMCs, natural killer cells, monocytes, dendritic cells and neutrophils (PubMed
• Sequence:

  MDQREILQKFLDEAQSKKITKEEFANEFLKLKRQSTKYKADKTYPTTVAEKPKNIKKNRYKDILPYDYSRVELSL
  ITSDEDSSYINANFIKGVYGPKAYIATQGPLSTTLLDFWRMIWEYSVLIIVMACMEYEMGKKKCERYWAEPGEMQ
  LEFGPFSVSCEAEKRKSDYIIRTLKVKFNSETRTIYQFHYKNWPDHDVPSSIDPILELIWDVRCYQEDDSVPICI
  HCSAGCGRTGVICAIDYTWMLLKDGIIPENFSVFSLIREMRTQRPSLVQTQEQYELVYNAVLELFKRQMDVIRDK
  HSGTESQAKHCIPEKNHTLQADSYSPNLPKSTTKAAKMMNQQRTKMEIKESSSFDFRTSEISAKEELVLHPAKSS
  TSFDFLELNYSFDKNADTTMKWQTKAFPIVGEPLQKHQSLDLGSLLFEGCSNSKPVNAAGRYFNSKVPITRTKST
  PFELIQQRETKEVDSKENFSYLESQPHDSCFVEMQAQKVMHVSSAELNYSLPYDSKHQIRNASNVKHHDSSALGV
  YSYIPLVENPYFSSWPPSGTSSKMSLDLPEKQDGTVFPSSLLPTSSTSLFSYYNSHDSLSLNSPTNISSLLNQES
  AVLATAPRIDDEIPPPLPVRTPESFIVVEEAGEFSPNVPKSLSSAVKVKIGTSLEWGGTSEPKKFDDSVILRPSK
  SVKLRSPKSELHQDRSSPPPPLPERTLESFFLADEDCMQAQSIETYSTSYPDTMENSTSSKQTLKTPGKSFTRSK
  SLKILRNMKKSICNSCPPNKPAESVQSNNSSSFLNFGFANRFSKPKGPRNPPPTWNI

• Structural information:
  • Protein Domains: (24..28-)
    (/note="Tyrosine-protein-phosphatase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00160"-)
  • Interpro: IPR029021  IPR000242  IPR016276  IPR016130  IPR003595   IPR000387  
  • Prosite: PS00383 PS50056 PS50055
  • PDB: 2P6X 2QCJ 2QCT 3BRH 3H2X 3OLR 3OMH 4J51
  • PDBsum: 2P6X 2QCJ 2QCT 3BRH 3H2X 3OLR 3OMH 4J51
  • DIP: 29953
  • STRING: ENSP00000352833
• Other Databases: GeneCards:  PTPN22  Malacards:  PTPN22

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000566	positive regulation of CD8-positive, alpha-beta T cell proliferation	IBA	biological process
GO:2000483	negative regulation of interleukin-8 secretion	IBA	biological process
GO:1903753	negative regulation of p38MAPK cascade	IBA	biological process
GO:1902741	positive regulation of interferon-alpha secretion	IBA	biological process
GO:1902715	positive regulation of interferon-gamma secretion	IBA	biological process
GO:1902523	positive regulation of protein K63-linked ubiquitination	IBA	biological process
GO:1901222	regulation of NIK/NF-kappaB signaling	IBA	biological process
GO:0071663	positive regulation of granzyme B production	IBA	biological process
GO:0070433	negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IBA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IBA	biological process
GO:0050868	negative regulation of T cell activation	IBA	biological process
GO:0050852	T cell receptor signaling pathway	IBA	biological process
GO:0035549	positive regulation of interferon-beta secretion	IBA	biological process
GO:0035335	peptidyl-tyrosine dephosphorylation	IBA	biological process
GO:0034165	positive regulation of toll-like receptor 9 signaling pathway	IBA	biological process
GO:0034145	positive regulation of toll-like receptor 4 signaling pathway	IBA	biological process
GO:0030217	T cell differentiation	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	IBA	molecular function
GO:0002230	positive regulation of defense response to virus by host	IBA	biological process
GO:1900165	negative regulation of interleukin-6 secretion	IBA	biological process
GO:0034157	positive regulation of toll-like receptor 7 signaling pathway	IBA	biological process
GO:0034141	positive regulation of toll-like receptor 3 signaling pathway	IBA	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IBA	biological process
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0050860	negative regulation of T cell receptor signaling pathway	IDA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0006470	protein dephosphorylation	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0050856	regulation of T cell receptor signaling pathway	IEA	biological process
GO:0016791	phosphatase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004721	phosphoprotein phosphatase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0004725	protein tyrosine phosphatase activity	IEA	molecular function
GO:0050852	T cell receptor signaling pathway	TAS	biological process
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0004725	protein tyrosine phosphatase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0004725	protein tyrosine phosphatase activity	IDA	molecular function
GO:0017124	SH3 domain binding	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019900	kinase binding	ISS	molecular function
GO:0006470	protein dephosphorylation	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0006470	protein dephosphorylation	TAS	biological process
GO:0050855	regulation of B cell receptor signaling pathway	NAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0032817	regulation of natural killer cell proliferation	IDA	biological process
GO:0045088	regulation of innate immune response	IC	biological process
GO:0005737	cytoplasm	TAS	cellular component
GO:0030217	T cell differentiation	ISS	biological process
GO:0035644	phosphoanandamide dephosphorylation	ISS	biological process
GO:0050868	negative regulation of T cell activation	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IDA	cellular component
GO:0071225	cellular response to muramyl dipeptide	IDA	biological process
GO:0016791	phosphatase activity	IDA	molecular function
GO:0032481	positive regulation of type I interferon production	IMP	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0034141	positive regulation of toll-like receptor 3 signaling pathway	IMP	biological process
GO:0010507	negative regulation of autophagy	IMP	biological process
GO:2000483	negative regulation of interleukin-8 secretion	IMP	biological process
GO:0010629	negative regulation of gene expression	IMP	biological process
GO:1901222	regulation of NIK/NF-kappaB signaling	IMP	biological process
GO:0031663	lipopolysaccharide-mediated signaling pathway	IMP	biological process
GO:0032496	response to lipopolysaccharide	IMP	biological process
GO:1902523	positive regulation of protein K63-linked ubiquitination	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0032720	negative regulation of tumor necrosis factor production	IMP	biological process
GO:1900165	negative regulation of interleukin-6 secretion	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0043508	negative regulation of JUN kinase activity	IMP	biological process
GO:0070433	negative regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway	IMP	biological process
GO:1903753	negative regulation of p38MAPK cascade	IMP	biological process
GO:1902715	positive regulation of interferon-gamma secretion	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0034145	positive regulation of toll-like receptor 4 signaling pathway	IMP	biological process

Diseases

Associated diseases	References
Type 1 diabetes mellitus	KEGG:H00408
Systemic sclerosis	KEGG:H01492
Giant cell arteritis	KEGG:H01698
Type 1 diabetes mellitus	KEGG:H00408
Systemic sclerosis	KEGG:H01492
Giant cell arteritis	KEGG:H01698
Chronic lymphocytic leukemia	PMID:22569400
Chronic lymphocytic leukemia	PMID:23287625
Vitiligo	PMID:18426414
Vitiligo	PMID:16015369
Graves' disease	PMID:18687223
Graves' disease	PMID:15504986
Sjogren's syndrome	PMID:16163373
Behcet's disease	PMID:17660222
Temporal arteritis	PMID:23946333
Addison's disease	PMID:18301444
Hypothyroidism	PMID:22493691
Urticaria	PMID:22722472
Endometriosis	PMID:20070289
Coronary artery disease	PMID:21846984
systemic scleroderma	PMID:21131644
Myasthenia gravis	PMID:19693092
juvenile rheumatoid arthritis	PMID:15934099
Rheumatoid arthritis	PMID:21279993
Crohn's disease	PMID:18587394
Psoriasis	PMID:18923449
Autoimmune thrombocytopenic purpura	PMID:21597364
Psoriatic arthritis	PMID:21410964
Systemic lupus erythematosus	PMID:23076337
Systemic lupus erythematosus	PMID:18981062
Systemic lupus erythematosus	PMID:17092257
Systemic lupus erythematosus	PMID:23950893
diabetes mellitus	PMID:18764813
type 1 diabetes mellitus	PMID:20176734
type 1 diabetes mellitus	PMID:21873553
type 1 diabetes mellitus	PMID:15004560
Meniere's disease	PMID:19780033
Alopecia areata	PMID:16829308
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R